"","p_val","avg_logFC","pct.1","pct.2","p_val_adj","cluster","gene","GeneName","AlsoPresentInClusters","CellTypeFlag","Summary","Reactom","GeneFamily"
"1",0,1.25175146643159,1,0.871,0,"0","SPP1","secreted phosphoprotein 1","0, 1","osteoclast","The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this protein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]","Degradation of the extracellular matrix; Signaling by PDGF; Integrin cell surface interactions; Integrin cell surface interactions; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); RUNX3 Regulates Immune Response and Cell Migration; Post-translational protein phosphorylation","Endogenous ligands|SIBLING family"
"2",0,1.16100103581823,1,1,0,"0","FTL","ferritin light chain","0, 1, 7","neutrophil granulocyte","This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]","Scavenging by Class A Receptors; Golgi Associated Vesicle Biogenesis; Neutrophil degranulation; Iron uptake and transport","Ferritin subunits"
"3",0,1.08131277427575,0.978,0.63,0,"0","LGMN","legumain","0, 1","dendritic cell, monocyte","This gene encodes a cysteine protease that has a strict specificity for hydrolysis of asparaginyl bonds. This enzyme may be involved in the processing of bacterial peptides and endogenous proteins for MHC class II presentation in the lysosomal/endosomal systems. Enzyme activation is triggered by acidic pH and appears to be autocatalytic. Protein expression occurs after monocytes differentiate into dendritic cells. A fully mature, active enzyme is produced following lipopolysaccharide expression in mature dendritic cells. Overexpression of this gene may be associated with the majority of solid tumor types. This gene has a pseudogene on chromosome 13. Several alternatively spliced transcript variants have been described, but the biological validity of only two has been determined. These two variants encode the same isoform. [provided by RefSeq, Jul 2008]","Trafficking and processing of endosomal TLR; Vitamin D (calciferol) metabolism; MHC class II antigen presentation",""
"4",0,1.07751486937624,0.997,0.8,0,"0","CTSB","cathepsin B","0, 1, 7","neutrophil granulocyte, progenitor","This gene encodes a member of the C1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to form the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer's disease, the most common cause of dementia. Overexpression of the encoded protein has been associated with esophageal adenocarcinoma and other tumors. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Nov 2015]","Collagen degradation; Trafficking and processing of endosomal TLR; Assembly of collagen fibrils and other multimeric structures; MHC class II antigen presentation; Neutrophil degranulation","Cathepsins"
"5",0,1.06496268262978,0.912,0.431,0,"0","F13A1","coagulation factor XIII A chain","0, 1","gastric gland zymogenic cell, megakaryocyte","This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008]","Platelet degranulation ; Common Pathway of Fibrin Clot Formation; Interleukin-4 and Interleukin-13 signaling","Transglutaminases"
"6",0,1.05053314982425,0.995,0.788,0,"0","CTSD","cathepsin D","0, 7","neutrophil granulocyte","This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]","Collagen degradation; Metabolism of Angiotensinogen to Angiotensins; MHC class II antigen presentation; Neutrophil degranulation; Estrogen-dependent gene expression","Cathepsins"
"7",0,1.04332497309478,0.993,0.693,0,"0","DAB2","DAB2, clathrin adaptor protein","0, 12, 7","","This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]","Gap junction degradation; Formation of annular gap junctions; Cargo recognition for clathrin-mediated endocytosis; Clathrin-mediated endocytosis",""
"8",0,1.03718767817833,1,0.779,0,"0","TYROBP","TYRO protein tyrosine kinase binding protein","0, 1, 7","lymphoid, myeloid, neutrophil granulocyte","This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; DAP12 interactions; DAP12 interactions; DAP12 signaling; DAP12 signaling; Signal regulatory protein family interactions; Other semaphorin interactions; Neutrophil degranulation",""
"9",0,0.995086529136445,0.899,0.391,0,"0","TREM2","triggering receptor expressed on myeloid cells 2","0, 7","lymphoid","This gene encodes a membrane protein that forms a receptor signaling complex with the TYRO protein tyrosine kinase binding protein. The encoded protein functions in immune response and may be involved in chronic inflammation by triggering the production of constitutive inflammatory cytokines. Defects in this gene are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; DAP12 interactions; DAP12 signaling; DAP12 signaling; Other semaphorin interactions","V-set domain containing"
"10",0,0.983877524108256,0.849,0.337,0,"0","TMIGD3","transmembrane and immunoglobulin domain containing 3","0, 1, 7","","This gene encodes a transmembrane and immunoglobulin domain-containing protein. Alternative splicing results in multiple transcript variants, one of which shares its 5' terminal exon with that of the overlapping adenosine A3 receptor gene (GeneID:140), thus resulting in a fusion product. [provided by RefSeq, Nov 2014]","",""
"11",0,0.968722364966093,0.985,0.687,0,"0","CD14","CD14 molecule","0, 1, 7","macrophage, monocyte, neutrophil granulocyte","The protein encoded by this gene is a surface antigen that is preferentially expressed on monocytes/macrophages. It cooperates with other proteins to mediate the innate immune response to bacterial lipopolysaccharide. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Mar 2010]","ER-Phagosome pathway; via Death Receptors in the presence of ligand; Toll Like Receptor 4 (TLR4) Cascade; Transfer of LPS from LBP carrier to CD14; MyD88:Mal cascade initiated on plasma membrane; MyD88-independent TLR4 cascade ; Toll Like Receptor TLR1:TLR2 Cascade; Toll Like Receptor TLR6:TLR2 Cascade; TRIF-mediated programmed cell death; MyD88 deficiency (TLR2/4); IRAK4 deficiency (TLR2/4); Regulation of TLR by endogenous ligand; Neutrophil degranulation; TICAM1,TRAF6-dependent induction of TAK1 complex; Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon; IKK complex recruitment mediated by RIP1; TRAF6-mediated induction of TAK1 complex within TLR4 complex; IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation","CD molecules|Scavenger receptors"
"12",0,0.933215978312617,0.997,0.771,0,"0","RNASE1","ribonuclease A family member 1, pancreatic","0, 1, 10, 2","","This gene encodes a member of the pancreatic-type of secretory ribonucleases, a subset of the ribonuclease A superfamily. The encoded endonuclease cleaves internal phosphodiester RNA bonds on the 3'-side of pyrimidine bases. It prefers poly(C) as a substrate and hydrolyzes 2',3'-cyclic nucleotides, with a pH optimum near 8.0. The encoded protein is monomeric and more commonly acts to degrade ds-RNA over ss-RNA. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]","","Ribonuclease A family"
"13",0,0.873862787310887,0.978,0.599,0,"0","LYVE1","lymphatic vessel endothelial hyaluronan receptor 1","0, 1, 7","","This gene encodes a type I integral membrane glycoprotein. The encoded protein acts as a receptor and binds to both soluble and immobilized hyaluronan. This protein may function in lymphatic hyaluronan transport and have a role in tumor metastasis. [provided by RefSeq, Jul 2008]","Hyaluronan uptake and degradation",""
"14",0,0.864674651207975,0.986,0.717,0,"0","S100A9","S100 calcium binding protein A9","0, 1, 15, 7","neutrophil granulocyte","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and altered expression of this protein is associated with the disease cystic fibrosis. This antimicrobial protein exhibits antifungal and antibacterial activity. [provided by RefSeq, Nov 2014]","Regulation of TLR by endogenous ligand; Neutrophil degranulation; Metal sequestration by antimicrobial proteins","S100 calcium binding proteins|EF-hand domain containing"
"15",0,0.848361027400471,0.923,0.591,0,"0","CTSZ","cathepsin Z","","neutrophil granulocyte","The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protein has also been known as cathepsin X and cathepsin P. This gene is expressed ubiquitously in cancer cell lines and primary tumors and, like other members of this family, may be involved in tumorigenesis. [provided by RefSeq, Oct 2008]","Metabolism of Angiotensinogen to Angiotensins; COPII-mediated vesicle transport; Lysosome Vesicle Biogenesis; Cargo concentration in the ER; Neutrophil degranulation","Cathepsins"
"16",0,0.830693083315179,0.893,0.511,0,"0","STAB1","stabilin 1","0, 1, 7","endothelial cells","This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008]","Scavenging by Class H Receptors","Scavenger receptors"
"17",0,0.826566168836179,0.999,0.855,0,"0","CSTB","cystatin B","","neutrophil granulocyte","The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by RefSeq, Jul 2016]","Neutrophil degranulation","Cystatins, type 1"
"18",0,0.819540776994829,0.966,0.649,0,"0","EGFL7","EGF like domain multiple 7","0, 1, 7","endothelial cells","This gene encodes a secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be involved in the growth and proliferation of tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]","",""
"19",0,0.816501692808806,0.997,0.856,0,"0","LGALS1","galectin 1","0, 1, 7","","The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. This gene product may act as an autocrine negative growth factor that regulates cell proliferation. [provided by RefSeq, Jul 2008]","Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Post-translational protein phosphorylation","Endogenous ligands|Galectins"
"20",0,0.813924110427052,0.989,0.741,0,"0","FCER1G","Fc fragment of IgE receptor Ig","0, 1, 7","megakaryocyte, neutrophil granulocyte","The high affinity IgE receptor is a key molecule involved in allergic reactions. It is a tetramer composed of 1 alpha, 1 beta, and 2 gamma chains. The gamma chains are also subunits of other Fc receptors. [provided by RefSeq, Jul 2008]","GPVI-mediated activation cascade; Cell surface interactions at the vascular wall; Fc epsilon receptor (FCERI) signaling; Fc epsilon receptor (FCERI) signaling; Role of LAT2/NTAL/LAB on calcium mobilization; Role of LAT2/NTAL/LAB on calcium mobilization; FCERI mediated MAPK activation; FCERI mediated Ca+2 mobilization; FCERI mediated Ca+2 mobilization; FCERI mediated NF-kB activation; Dectin-2 family; Dectin-2 family; Neutrophil degranulation; Platelet Adhesion to exposed collagen",""
"21",0,0.780980078071043,0.777,0.446,0,"0","CHCHD10","coiled-coil-helix-coiled-coil-helix domain containing 10","0, 12, 7","","This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]","Mitochondrial protein import","Mitochondrial coiled-coil-helix-coiled-coil-helix domain containing proteins"
"22",0,0.777331845808842,0.998,0.884,0,"0","SH3BGRL3","SH3 domain binding glutamate rich protein like 3","0, 7","","Not available","",""
"23",0,0.776804924795757,0.949,0.646,0,"0","HCST","hematopoietic cell signal transducer","0, 1, 7","lymphoid","This gene encodes a transmembrane signaling adaptor that contains a YxxM motif in its cytoplasmic domain. The encoded protein may form part of the immune recognition receptor complex with the C-type lectin-like receptor NKG2D. As part of this receptor complex, this protein may activate phosphatidylinositol 3-kinase dependent signaling pathways through its intracytoplasmic YxxM motif. This receptor complex may have a role in cell survival and proliferation by activation of NK and T cell responses. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell",""
"24",0,0.750378423849369,0.953,0.549,0,"0","CD68","CD68 molecule","0, 12, 2","connective tissue macrophage, macrophage, monocyte, neutrophil granulocyte","This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]","Neutrophil degranulation","CD molecules|Scavenger receptors"
"25",0,0.740945167681545,1,0.922,0,"0","TMSB4X","thymosin beta 4 X-linked","0, 7","megakaryocyte","This gene encodes an actin sequestering protein which plays a role in regulation of actin polymerization. The protein is also involved in cell proliferation, migration, and differentiation. This gene escapes X inactivation and has a homolog on chromosome Y. [provided by RefSeq, Jul 2008]","Platelet degranulation ",""
"26",0,0.739181474912925,0.902,0.609,0,"0","ATP1B1","ATPase Na+/K+ transporting subunit beta 1","","","The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known. [provided by RefSeq, Mar 2010]","Basigin interactions; Ion homeostasis; Ion transport by P-type ATPases","ATPase Na+/K+ transporting subunits"
"27",0,0.732646880189984,0.847,0.407,0,"0","CD163","CD163 molecule","0, 1","macrophage, monocyte","The protein encoded by this gene is a member of the scavenger receptor cysteine-rich (SRCR) superfamily, and is exclusively expressed in monocytes and macrophages. It functions as an acute phase-regulated receptor involved in the clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages, and may thereby protect tissues from free hemoglobin-mediated oxidative damage. This protein may also function as an innate immune sensor for bacteria and inducer of local inflammation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]","Scavenging of heme from plasma","CD molecules|Scavenger receptors|Scavenger receptor cysteine rich domain containing"
"28",0,0.729988750027829,0.885,0.469,0,"0","LY96","lymphocyte antigen 96","0, 12, 2","","This gene encodes a protein which associates with toll-like receptor 4 on the cell surface and confers responsiveness to lipopolysaccyaride (LPS), thus providing a link between the receptor and LPS signaling. Studies of the mouse ortholog suggest that this gene may be involved in endotoxin neutralization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2010]","ER-Phagosome pathway; via Death Receptors in the presence of ligand; Toll Like Receptor 4 (TLR4) Cascade; MyD88:Mal cascade initiated on plasma membrane; MyD88-independent TLR4 cascade ; TRIF-mediated programmed cell death; MyD88 deficiency (TLR2/4); IRAK4 deficiency (TLR2/4); Regulation of TLR by endogenous ligand; TICAM1,TRAF6-dependent induction of TAK1 complex; Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon; IKK complex recruitment mediated by RIP1; TRAF6-mediated induction of TAK1 complex within TLR4 complex; IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation",""
"29",0,0.728801673149791,0.966,0.665,0,"0","CTSC","cathepsin C","","neutrophil granulocyte","This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate heavy and light chains that form a disulfide-linked dimer. A portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. [provided by RefSeq, Nov 2015]","COPII-mediated vesicle transport; MHC class II antigen presentation; Cargo concentration in the ER; Neutrophil degranulation","Cathepsins"
"30",0,0.712517685406835,0.95,0.652,0,"0","NINJ1","ninjurin 1","","schwann cell","The ninjurin protein is upregulated after nerve injury both in dorsal root ganglion neurons and in Schwann cells (Araki and Milbrandt, 1996 [PubMed 8780658]). It demonstrates properties of a homophilic adhesion molecule and promotes neurite outgrowth from primary cultured dorsal root ganglion neurons.[supplied by OMIM, Aug 2009]","",""
"31",0,0.705852828223816,0.967,0.645,0,"0","CD36","CD36 molecule","0, 10, 12, 2","adipocytes, erythrocyte, megakaryocyte, neutrophil granulocyte","The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2014]","Platelet degranulation ; Cross-presentation of particulate exogenous antigens (phagosomes); ER-Phagosome pathway; MyD88:Mal cascade initiated on plasma membrane; Toll Like Receptor TLR6:TLR2 Cascade; PPARA activates gene expression; Scavenging by Class B Receptors; Scavenging by Class B Receptors; Transcriptional regulation of white adipocyte differentiation; MyD88 deficiency (TLR2/4); IRAK4 deficiency (TLR2/4); Regulation of TLR by endogenous ligand; Interleukin-4 and Interleukin-13 signaling; Neutrophil degranulation","CD molecules|Scavenger receptors"
"32",0,0.700222905181131,0.809,0.409,0,"0","BRI3","brain protein I3","","neutrophil granulocyte","Not available","Neutrophil degranulation",""
"33",0,0.699473035175574,0.966,0.632,0,"0","MAF","MAF bZIP transcription factor","0, 12, 7","osteoblast","The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]","RUNX2 regulates osteoblast differentiation","Basic leucine zipper proteins"
"34",0,0.69519693608115,0.746,0.381,0,"0","IGFBP4","insulin like growth factor binding protein 4","","","This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma in both glycosylated and non-glycosylated forms. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008]","Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Post-translational protein phosphorylation","Insulin like growth factor binding proteins"
"35",0,0.67961973134846,0.998,0.837,0,"0","NPC2","NPC intracellular cholesterol transporter 2","","neutrophil granulocyte","This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]","Neutrophil degranulation; LDL clearance",""
"36",0,0.673115364513636,0.73,0.353,0,"0","RAP2B","RAP2B, member of RAS oncogene family","","neutrophil granulocyte","This intronless gene belongs to a family of RAS-related genes. The proteins encoded by these genes share approximately 50% amino acid identity with the classical RAS proteins and have numerous structural features in common. The most striking difference between the RAP and RAS proteins resides in their 61st amino acid: glutamine in RAS is replaced by threonine in RAP proteins. Evidence suggests that this protein may be polyisoprenylated and palmitoylated. [provided by RefSeq, Jul 2008]","Neutrophil degranulation","RAS type GTPase family"
"37",0,0.640299819586221,0.882,0.552,0,"0","CREG1","cellular repressor of E1A stimulated genes 1","0, 12","neutrophil granulocyte","The adenovirus E1A protein both activates and represses gene expression to promote cellular proliferation and inhibit differentiation. The protein encoded by this gene antagonizes transcriptional activation and cellular transformation by E1A. This protein shares limited sequence similarity with E1A and binds both the general transcription factor TBP and the tumor suppressor pRb in vitro. This gene may contribute to the transcriptional control of cell growth and differentiation. [provided by RefSeq, Jul 2008]","Neutrophil degranulation",""
"38",0,0.639200191538342,0.897,0.492,0,"0","MRC1","mannose receptor C-type 1","0, 2","macrophage","The recognition of complex carbohydrate structures on glycoproteins is an important part of several biological processes, including cell-cell recognition, serum glycoprotein turnover, and neutralization of pathogens. The protein encoded by this gene is a type I membrane receptor that mediates the endocytosis of glycoproteins by macrophages. The protein has been shown to bind high-mannose structures on the surface of potentially pathogenic viruses, bacteria, and fungi so that they can be neutralized by phagocytic engulfment.[provided by RefSeq, Sep 2015]","Cross-presentation of soluble exogenous antigens (endosomes); Cross-presentation of soluble exogenous antigens (endosomes)","CD molecules|Scavenger receptors|C-type lectin domain containing"
"39",0,0.631702433968784,0.994,0.905,0,"0","AP2S1","adaptor related protein complex 2 subunit sigma 1","0, 7","","One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]","Nef Mediated CD4 Down-regulation; Retrograde neurotrophin signalling; Retrograde neurotrophin signalling; Nef Mediated CD8 Down-regulation; MHC class II antigen presentation; EPH-ephrin mediated repulsion of cells; Trafficking of GluR2-containing AMPA receptors; Recycling pathway of L1; Recycling pathway of L1; WNT5A-dependent internalization of FZD4; WNT5A-dependent internalization of FZD2, FZD5 and ROR2; Cargo recognition for clathrin-mediated endocytosis; Clathrin-mediated endocytosis; VLDLR internalisation and degradation; LDL clearance",""
"40",0,0.617184365257416,0.869,0.532,0,"0","KCTD12","potassium channel tetramerization domain containing 12","","","Not available","",""
"41",5.62167477634157e-298,0.647057122990603,0.964,0.74,1.29725767138858e-293,"0","FABP5","fatty acid binding protein 5","","neutrophil granulocyte","This gene encodes the fatty acid binding protein found in epidermal cells, and was first identified as being upregulated in psoriasis tissue. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABPs may play roles in fatty acid uptake, transport, and metabolism. Polymorphisms in this gene are associated with type 2 diabetes. The human genome contains many pseudogenes similar to this locus.[provided by RefSeq, Feb 2011]","Triglyceride catabolism; Signaling by Retinoic Acid; Neutrophil degranulation","Fatty acid binding protein family"
"42",9.2808200792179e-291,0.745160813547301,0.921,0.712,2.14164204148032e-286,"0","KLF6","Kruppel like factor 6","","","This gene encodes a member of the Kruppel-like family of transcription factors. The zinc finger protein is a transcriptional activator, and functions as a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene, some of which are implicated in carcinogenesis. [provided by RefSeq, May 2009]","","Zinc fingers C2H2-type|Kruppel like factors"
"43",2.67360943627294e-270,0.635273955644715,0.792,0.501,6.16962113514344e-266,"0","LIPA","lipase A, lysosomal acid type","0, 12","","This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]","LDL clearance","Lipases"
"44",3.18210390085156e-241,0.640065808564949,0.726,0.39,7.34302296160506e-237,"0","MAFB","MAF bZIP transcription factor B","","erythrocyte, myeloid","The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008]","Activation of anterior HOX genes in hindbrain development during early embryogenesis","Basic leucine zipper proteins"
"45",1.23217696272186e-240,0.628524026770226,0.972,0.82,2.84337155917697e-236,"0","S100A4","S100 calcium binding protein A4","0, 1, 12, 7","","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]","","S100 calcium binding proteins|EF-hand domain containing"
"46",4.50260161296918e-237,0.738685615471599,0.81,0.53,1.03902034820877e-232,"0","RETN","resistin","0, 1, 7","adipocytes, neutrophil granulocyte","This gene belongs to the family defined by the mouse resistin-like genes. The characteristic feature of this family is the C-terminal stretch of 10 cys residues with identical spacing. The mouse homolog of this protein is secreted by adipocytes, and may be the hormone potentially linking obesity to type II diabetes. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]","Neutrophil degranulation",""
"47",4.9556669643246e-217,0.659011927105111,0.848,0.622,1.14356970868755e-212,"0","DUSP1","dual specificity phosphatase 1","","","The protein encoded by this gene is a phosphatase with dual specificity for tyrosine and threonine. The encoded protein can dephosphorylate MAP kinase MAPK1/ERK2, which results in its involvement in several cellular processes. This protein appears to play an important role in the human cellular response to environmental stress as well as in the negative regulation of cellular proliferation. Finally, the encoded protein can make some solid tumors resistant to both chemotherapy and radiotherapy, making it a target for cancer therapy. [provided by RefSeq, Aug 2017]","RAF-independent MAPK1/3 activation; Negative regulation of MAPK pathway","MAP kinase phosphatases"
"48",1.29194745228597e-198,0.741505774705459,0.854,0.63,2.98129794089511e-194,"0","HMOX1","heme oxygenase 1","0, 10, 12, 2","","Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. [provided by RefSeq, Jul 2008]","Heme degradation; Interleukin-4 and Interleukin-13 signaling; Iron uptake and transport",""
"49",2.75993774487721e-165,0.671118227982248,0.651,0.426,6.36883234007865e-161,"0","CITED2","Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2","","","The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]","Regulation of gene expression by Hypoxia-inducible Factor; TFAP2 (AP-2) family regulates transcription of other transcription factors; Activation of the TFAP2 (AP-2) family of transcription factors",""
"50",7.38231472091448e-80,0.647440257553702,0.457,0.298,1.70354294499823e-75,"0","RGS16","regulator of G protein signaling 16","","","The protein encoded by this gene belongs to the 'regulator of G protein signaling' family. It inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits. It also may play a role in regulating the kinetics of signaling in the phototransduction cascade. [provided by RefSeq, Jul 2008]","G alpha (i) signalling events","Regulators of G-protein signaling"
"51",0,1.81397641612506,0.997,0.642,0,"1","CXCL8","C-X-C motif chemokine ligand 8","1, 15","neutrophil granulocyte","The protein encoded by this gene is a member of the CXC chemokine family and is a major mediator of the inflammatory response. The encoded protein is secreted primarily by neutrophils, where it serves as a chemotactic factor by guiding the neutrophils to the site of infection. This chemokine is also a potent angiogenic factor. This gene is believed to play a role in the pathogenesis of bronchiolitis, a common respiratory tract disease caused by viral infection. This gene and other members of the CXC chemokine gene family form a gene cluster in a region of chromosome 4q. [provided by RefSeq, Aug 2017]","Senescence-Associated Secretory Phenotype (SASP); Peptide ligand-binding receptors; Chemokine receptors bind chemokines; ATF4 activates genes; G alpha (i) signalling events; Interleukin-10 signaling; Interleukin-4 and Interleukin-13 signaling","Chemokine ligands|Endogenous ligands|Interleukins"
"52",0,1.75218066429197,0.955,0.397,0,"1","IL1B","interleukin 1 beta","1, 15","macrophage","The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq, Jul 2008]","Interleukin-1 processing; CLEC7A/inflammasome pathway; Interleukin-10 signaling; Interleukin-4 and Interleukin-13 signaling; Interleukin-1 signaling","Endogenous ligands|Interleukins"
"53",0,1.70826459453824,0.876,0.389,0,"1","CXCL1","C-X-C motif chemokine ligand 1","","neutrophil granulocyte","This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. Aberrant expression of this protein is associated with the growth and progression of certain tumors. A naturally occurring processed form of this protein has increased chemotactic activity. Alternate splicing results in coding and non-coding variants of this gene. A pseudogene of this gene is found on chromosome 4. [provided by RefSeq, Sep 2014]","Chemokine receptors bind chemokines; G alpha (i) signalling events; Interleukin-10 signaling; Neutrophil degranulation","Chemokine ligands|Endogenous ligands"
"54",0,1.64422550787455,0.999,0.787,0,"1","CCL4","C-C motif chemokine ligand 4","1, 2","","The protein encoded by this gene is a mitogen-inducible monokine and is one of the major HIV-suppressive factors produced by CD8+ T-cells. The encoded protein is secreted and has chemokinetic and inflammatory functions. [provided by RefSeq, Dec 2012]","G alpha (i) signalling events; Interleukin-10 signaling","Chemokine ligands|Endogenous ligands"
"55",0,1.62652725080048,0.999,0.791,0,"1","CCL3","C-C motif chemokine ligand 3","","macrophage","This locus represents a small inducible cytokine. The encoded protein, also known as macrophage inflammatory protein 1 alpha, plays a role in inflammatory responses through binding to the receptors CCR1, CCR4 and CCR5. Polymorphisms at this locus may be associated with both resistance and susceptibility to infection by human immunodeficiency virus type 1.[provided by RefSeq, Sep 2010]","Interleukin-10 signaling","Chemokine ligands|Endogenous ligands"
"56",0,1.56904967968406,0.995,0.749,0,"1","CCL4L2","C-C motif chemokine ligand 4 like 2","1, 2","","This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this family member is similar to the chemokine (C-C motif) ligand 4 product, which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals, where most individuals have one to five copies. This gene copy contains a non-consensus splice acceptor site at the 3' terminal exon found in other highly similar gene copies, and it thus uses other alternative splice sites for the 3' terminal exon, resulting in multiple transcript variants. [provided by RefSeq, Apr 2014]","G alpha (i) signalling events","Chemokine ligands"
"57",0,1.51672587070205,0.986,0.647,0,"1","CCL3L3","C-C motif chemokine ligand 3 like 3","","","This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this gene binds to several chemokine receptors, including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals, where most individuals have one to six copies, and a minority of individuals have zero or more than six copies. There are conflicting reports about copy number variation of this gene and its correlation to disease susceptibility.[provided by RefSeq, Apr 2014]","Interleukin-10 signaling","Chemokine ligands"
"58",0,1.39019901010877,0.998,0.748,0,"1","IER3","immediate early response 3","","","This gene functions in the protection of cells from Fas- or tumor necrosis factor type alpha-induced apoptosis. Partially degraded and unspliced transcripts are found after virus infection in vitro, but these transcripts are not found in vivo and do not generate a valid protein. [provided by RefSeq, Jul 2008]","PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling",""
"59",0,1.32237173916037,0.99,0.631,0,"1","SOD2","superoxide dismutase 2","1, 15","","This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016]","Transcriptional activation of mitochondrial biogenesis; Detoxification of Reactive Oxygen Species; Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models; Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation",""
"60",0,1.29639534329325,0.997,0.694,0,"1","CD14","CD14 molecule","0, 1, 7","macrophage, monocyte, neutrophil granulocyte","The protein encoded by this gene is a surface antigen that is preferentially expressed on monocytes/macrophages. It cooperates with other proteins to mediate the innate immune response to bacterial lipopolysaccharide. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Mar 2010]","ER-Phagosome pathway; via Death Receptors in the presence of ligand; Toll Like Receptor 4 (TLR4) Cascade; Transfer of LPS from LBP carrier to CD14; MyD88:Mal cascade initiated on plasma membrane; MyD88-independent TLR4 cascade ; Toll Like Receptor TLR1:TLR2 Cascade; Toll Like Receptor TLR6:TLR2 Cascade; TRIF-mediated programmed cell death; MyD88 deficiency (TLR2/4); IRAK4 deficiency (TLR2/4); Regulation of TLR by endogenous ligand; Neutrophil degranulation; TICAM1,TRAF6-dependent induction of TAK1 complex; Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon; IKK complex recruitment mediated by RIP1; TRAF6-mediated induction of TAK1 complex within TLR4 complex; IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation","CD molecules|Scavenger receptors"
"61",0,1.20125973998998,0.882,0.31,0,"1","TNF","tumor necrosis factor","","adipocytes, macrophage","This gene encodes a multifunctional proinflammatory cytokine that belongs to the tumor necrosis factor (TNF) superfamily. This cytokine is mainly secreted by macrophages. It can bind to, and thus functions through its receptors TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. This cytokine is involved in the regulation of a wide spectrum of biological processes including cell proliferation, differentiation, apoptosis, lipid metabolism, and coagulation. This cytokine has been implicated in a variety of diseases, including autoimmune diseases, insulin resistance, and cancer. Knockout studies in mice also suggested the neuroprotective function of this cytokine. [provided by RefSeq, Jul 2008]","Transcriptional regulation of white adipocyte differentiation; TNFR1-induced proapoptotic signaling; Regulation of TNFR1 signaling; TNFR1-induced NFkappaB signaling pathway; TNFR1-mediated ceramide production; TNFR2 non-canonical NF-kB pathway; Interleukin-10 signaling; Interleukin-4 and Interleukin-13 signaling; TNF signaling","Tumor necrosis factor superfamily"
"62",0,1.16701231887842,0.999,0.712,0,"1","SRGN","serglycin","1, 15, 19","megakaryocyte","This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. Two transcript variants, only one of them protein-coding, have been found for this gene. [provided by RefSeq, Jul 2010]","Platelet degranulation ","Proteoglycans"
"63",0,1.13714485018008,0.949,0.603,0,"1","PLIN2","perilipin 2","","adipocytes, adrenal gland cells, fibroblasts, hepatocyte, leydig cell of testes secreting testosterone, mammary gland cell milk secretion","The protein encoded by this gene belongs to the perilipin family, members of which coat intracellular lipid storage droplets. This protein is associated with the lipid globule surface membrane material, and maybe involved in development and maintenance of adipose tissue. However, it is not restricted to adipocytes as previously thought, but is found in a wide range of cultured cell lines, including fibroblasts, endothelial and epithelial cells, and tissues, such as lactating mammary gland, adrenal cortex, Sertoli and Leydig cells, and hepatocytes in alcoholic liver cirrhosis, suggesting that it may serve as a marker of lipid accumulation in diverse cell types and diseases. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]","PPARA activates gene expression","Perilipins"
"64",0,1.11423944605056,0.999,0.792,0,"1","NEAT1","nuclear paraspeckle assembly transcript 1","","","This gene produces a long non-coding RNA (lncRNA) transcribed from the multiple endocrine neoplasia locus. This lncRNA is retained in the nucleus where it forms the core structural component of the paraspeckle sub-organelles. It may act as a transcriptional regulator for numerous genes, including some genes involved in cancer progression. [provided by RefSeq, Mar 2015]","","Long non-coding RNAs (published)"
"65",0,1.10698057605033,1,0.874,0,"1","SPP1","secreted phosphoprotein 1","0, 1","osteoclast","The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this protein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]","Degradation of the extracellular matrix; Signaling by PDGF; Integrin cell surface interactions; Integrin cell surface interactions; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); RUNX3 Regulates Immune Response and Cell Migration; Post-translational protein phosphorylation","Endogenous ligands|SIBLING family"
"66",0,1.0739408470422,0.999,0.753,0,"1","NFKBIA","NFKB inhibitor alpha","","b cell","This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]","Activation of NF-kappaB in B cells; RIP-mediated NFkB activation via ZBP1; Downstream TCR signaling; NF-kB is activated and signals survival; FCERI mediated NF-kB activation; TAK1 activates NFkB by phosphorylation and activation of IKKs complex; SUMOylation of immune response proteins; IkBA variant leads to EDA-ID; CLEC7A (Dectin-1) signaling; Ub-specific processing proteases; Interleukin-1 signaling; TRAF6 mediated NF-kB activation","Ankyrin repeat domain containing"
"67",0,0.996221111868228,0.89,0.369,0,"1","PLAUR","plasminogen activator, urokinase receptor","1, 15","neutrophil granulocyte","This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. It binds both the proprotein and mature forms of urokinase plasminogen activator and permits the activation of the receptor-bound pro-enzyme by plasmin. The protein lacks transmembrane or cytoplasmic domains and may be anchored to the plasma membrane by a glycosyl-phosphatidylinositol (GPI) moiety following cleavage of the nascent polypeptide near its carboxy-terminus. However, a soluble protein is also produced in some cell types. Alternative splicing results in multiple transcript variants encoding different isoforms. The proprotein experiences several post-translational cleavage reactions that have not yet been fully defined. [provided by RefSeq, Jul 2008]","Attachment of GPI anchor to uPAR; Neutrophil degranulation; Dissolution of Fibrin Clot","CD molecules|LY6/PLAUR domain containing"
"68",0,0.994731963730686,0.848,0.239,0,"1","ABL2","ABL proto-oncogene 2, non-receptor tyrosine kinase","","","This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009]","Role of ABL in ROBO-SLIT signaling; Role of ABL in ROBO-SLIT signaling","SH2 domain containing|Abl family tyrosine kinases"
"69",0,0.99137040352106,0.855,0.434,0,"1","IL1RN","interleukin 1 receptor antagonist","1, 15","","The protein encoded by this gene is a member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jan 2016]","Interleukin-10 signaling; Interleukin-1 signaling","Endogenous ligands|Interleukins|Interleukin receptors"
"70",0,0.966005390443993,0.871,0.346,0,"1","OTUD1","OTU deubiquitinase 1","","","Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA7 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008]","","OTU domain containing"
"71",0,0.94659524739644,0.849,0.387,0,"1","CXCL2","C-X-C motif chemokine ligand 2","1, 15","progenitor","This antimicrobial gene is part of a chemokine superfamily that encodes secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CXC subfamily, is expressed at sites of inflammation and may suppress hematopoietic progenitor cell proliferation. [provided by RefSeq, Sep 2014]","Chemokine receptors bind chemokines; G alpha (i) signalling events; Interleukin-10 signaling","Chemokine ligands|Endogenous ligands"
"72",0,0.945904558628254,0.999,0.607,0,"1","LYVE1","lymphatic vessel endothelial hyaluronan receptor 1","0, 1, 7","","This gene encodes a type I integral membrane glycoprotein. The encoded protein acts as a receptor and binds to both soluble and immobilized hyaluronan. This protein may function in lymphatic hyaluronan transport and have a role in tumor metastasis. [provided by RefSeq, Jul 2008]","Hyaluronan uptake and degradation",""
"73",0,0.940597569942767,0.995,0.724,0,"1","S100A9","S100 calcium binding protein A9","0, 1, 15, 7","neutrophil granulocyte","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and altered expression of this protein is associated with the disease cystic fibrosis. This antimicrobial protein exhibits antifungal and antibacterial activity. [provided by RefSeq, Nov 2014]","Regulation of TLR by endogenous ligand; Neutrophil degranulation; Metal sequestration by antimicrobial proteins","S100 calcium binding proteins|EF-hand domain containing"
"74",0,0.939375462134586,0.938,0.424,0,"1","CD83","CD83 molecule","","dendritic cell","The protein encoded by this gene is a single-pass type I membrane protein and member of the immunoglobulin superfamily of receptors. The encoded protein may be involved in the regulation of antigen presentation. A soluble form of this protein can bind to dendritic cells and inhibit their maturation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]","","CD molecules|V-set domain containing"
"75",0,0.923012425517063,0.998,0.805,0,"1","CTSB","cathepsin B","0, 1, 7","neutrophil granulocyte, progenitor","This gene encodes a member of the C1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to form the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer's disease, the most common cause of dementia. Overexpression of the encoded protein has been associated with esophageal adenocarcinoma and other tumors. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Nov 2015]","Collagen degradation; Trafficking and processing of endosomal TLR; Assembly of collagen fibrils and other multimeric structures; MHC class II antigen presentation; Neutrophil degranulation","Cathepsins"
"76",0,0.912570287331817,1,0.785,0,"1","TYROBP","TYRO protein tyrosine kinase binding protein","0, 1, 7","lymphoid, myeloid, neutrophil granulocyte","This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; DAP12 interactions; DAP12 interactions; DAP12 signaling; DAP12 signaling; Signal regulatory protein family interactions; Other semaphorin interactions; Neutrophil degranulation",""
"77",0,0.888500427083199,0.928,0.443,0,"1","F13A1","coagulation factor XIII A chain","0, 1","gastric gland zymogenic cell, megakaryocyte","This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008]","Platelet degranulation ; Common Pathway of Fibrin Clot Formation; Interleukin-4 and Interleukin-13 signaling","Transglutaminases"
"78",0,0.880454764141258,0.997,0.86,0,"1","LGALS1","galectin 1","0, 1, 7","","The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. This gene product may act as an autocrine negative growth factor that regulates cell proliferation. [provided by RefSeq, Jul 2008]","Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Post-translational protein phosphorylation","Endogenous ligands|Galectins"
"79",0,0.869734850692467,1,1,0,"1","FTL","ferritin light chain","0, 1, 7","neutrophil granulocyte","This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]","Scavenging by Class A Receptors; Golgi Associated Vesicle Biogenesis; Neutrophil degranulation; Iron uptake and transport","Ferritin subunits"
"80",0,0.869675017624806,0.909,0.344,0,"1","TMIGD3","transmembrane and immunoglobulin domain containing 3","0, 1, 7","","This gene encodes a transmembrane and immunoglobulin domain-containing protein. Alternative splicing results in multiple transcript variants, one of which shares its 5' terminal exon with that of the overlapping adenosine A3 receptor gene (GeneID:140), thus resulting in a fusion product. [provided by RefSeq, Nov 2014]","",""
"81",0,0.866659697313314,0.85,0.334,0,"1","TNFAIP3","TNF alpha induced protein 3","","","This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012]","NOD1/2 Signaling Pathway; TNFR1-induced proapoptotic signaling; Regulation of TNFR1 signaling; TNFR1-induced NFkappaB signaling pathway; Ovarian tumor domain proteases; Negative regulators of DDX58/IFIH1 signaling","OTU domain containing"
"82",0,0.851553702995863,0.903,0.423,0,"1","NFKBIZ","NFKB inhibitor zeta","","","This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","","Ankyrin repeat domain containing"
"83",0,0.847207369607245,0.999,0.777,0,"1","RNASE1","ribonuclease A family member 1, pancreatic","0, 1, 10, 2","","This gene encodes a member of the pancreatic-type of secretory ribonucleases, a subset of the ribonuclease A superfamily. The encoded endonuclease cleaves internal phosphodiester RNA bonds on the 3'-side of pyrimidine bases. It prefers poly(C) as a substrate and hydrolyzes 2',3'-cyclic nucleotides, with a pH optimum near 8.0. The encoded protein is monomeric and more commonly acts to degrade ds-RNA over ss-RNA. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]","","Ribonuclease A family"
"84",0,0.840686108608845,0.877,0.37,0,"1","ICAM1","intercellular adhesion molecule 1","","endothelial cells, lymphoid","This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also exploited by Rhinovirus as a receptor. [provided by RefSeq, Jul 2008]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; Integrin cell surface interactions; Interleukin-10 signaling; Interleukin-4 and Interleukin-13 signaling; Interferon gamma signaling","CD molecules|Endogenous ligands|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family"
"85",0,0.82230341783814,1,0.746,0,"1","FCER1G","Fc fragment of IgE receptor Ig","0, 1, 7","megakaryocyte, neutrophil granulocyte","The high affinity IgE receptor is a key molecule involved in allergic reactions. It is a tetramer composed of 1 alpha, 1 beta, and 2 gamma chains. The gamma chains are also subunits of other Fc receptors. [provided by RefSeq, Jul 2008]","GPVI-mediated activation cascade; Cell surface interactions at the vascular wall; Fc epsilon receptor (FCERI) signaling; Fc epsilon receptor (FCERI) signaling; Role of LAT2/NTAL/LAB on calcium mobilization; Role of LAT2/NTAL/LAB on calcium mobilization; FCERI mediated MAPK activation; FCERI mediated Ca+2 mobilization; FCERI mediated Ca+2 mobilization; FCERI mediated NF-kB activation; Dectin-2 family; Dectin-2 family; Neutrophil degranulation; Platelet Adhesion to exposed collagen",""
"86",0,0.794799979461692,0.976,0.651,0,"1","HCST","hematopoietic cell signal transducer","0, 1, 7","lymphoid","This gene encodes a transmembrane signaling adaptor that contains a YxxM motif in its cytoplasmic domain. The encoded protein may form part of the immune recognition receptor complex with the C-type lectin-like receptor NKG2D. As part of this receptor complex, this protein may activate phosphatidylinositol 3-kinase dependent signaling pathways through its intracytoplasmic YxxM motif. This receptor complex may have a role in cell survival and proliferation by activation of NK and T cell responses. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell",""
"87",0,0.782776322972113,0.95,0.59,0,"1","PNRC1","proline rich nuclear receptor coactivator 1","","","Not available","",""
"88",0,0.780860081893286,0.991,0.638,0,"1","LGMN","legumain","0, 1","dendritic cell, monocyte","This gene encodes a cysteine protease that has a strict specificity for hydrolysis of asparaginyl bonds. This enzyme may be involved in the processing of bacterial peptides and endogenous proteins for MHC class II presentation in the lysosomal/endosomal systems. Enzyme activation is triggered by acidic pH and appears to be autocatalytic. Protein expression occurs after monocytes differentiate into dendritic cells. A fully mature, active enzyme is produced following lipopolysaccharide expression in mature dendritic cells. Overexpression of this gene may be associated with the majority of solid tumor types. This gene has a pseudogene on chromosome 13. Several alternatively spliced transcript variants have been described, but the biological validity of only two has been determined. These two variants encode the same isoform. [provided by RefSeq, Jul 2008]","Trafficking and processing of endosomal TLR; Vitamin D (calciferol) metabolism; MHC class II antigen presentation",""
"89",0,0.773443150041341,0.913,0.412,0,"1","CD163","CD163 molecule","0, 1","macrophage, monocyte","The protein encoded by this gene is a member of the scavenger receptor cysteine-rich (SRCR) superfamily, and is exclusively expressed in monocytes and macrophages. It functions as an acute phase-regulated receptor involved in the clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages, and may thereby protect tissues from free hemoglobin-mediated oxidative damage. This protein may also function as an innate immune sensor for bacteria and inducer of local inflammation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]","Scavenging of heme from plasma","CD molecules|Scavenger receptors|Scavenger receptor cysteine rich domain containing"
"90",0,0.748452498838355,0.796,0.288,0,"1","TMEM2","TMEM2","","","TMEM2","TMEM2","TMEM2"
"91",0,0.731937340967878,0.947,0.515,0,"1","STAB1","stabilin 1","0, 1, 7","endothelial cells","This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008]","Scavenging by Class H Receptors","Scavenger receptors"
"92",0,0.729540013651393,0.813,0.357,0,"1","REL","REL proto-oncogene, NF-kB subunit","","b cell","This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]","Activation of NF-kappaB in B cells","NF-kappa B complex subunits"
"93",0,0.72528530000386,0.98,0.656,0,"1","EGFL7","EGF like domain multiple 7","0, 1, 7","endothelial cells","This gene encodes a secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be involved in the growth and proliferation of tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]","",""
"94",0,0.725272145589882,0.82,0.321,0,"1","OGFRL1","opioid growth factor receptor like 1","","","Not available","",""
"95",0,0.721270518271923,0.966,0.647,0,"1","MCL1","MCL1, BCL2 family apoptosis regulator","","","This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010]","Interleukin-4 and Interleukin-13 signaling","BCL2 family"
"96",0,0.706074425896943,0.869,0.45,0,"1","PHLDA1","pleckstrin homology like domain family A member 1","","","This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. [provided by RefSeq, Jul 2008]","Interaction between PHLDA1 and AURKA",""
"97",9.5875842082901e-299,0.777151621273529,0.989,0.822,2.21243093190502e-294,"1","S100A4","S100 calcium binding protein A4","0, 1, 12, 7","","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]","","S100 calcium binding proteins|EF-hand domain containing"
"98",4.53372066066724e-262,0.729173880335312,0.438,0.119,1.04620137965557e-257,"1","MMP9","matrix metallopeptidase 9","1, 21","neutrophil granulocyte, progenitor","Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008]","Signaling by SCF-KIT; Collagen degradation; Collagen degradation; Degradation of the extracellular matrix; Degradation of the extracellular matrix; Activation of Matrix Metalloproteinases; Assembly of collagen fibrils and other multimeric structures; EPH-ephrin mediated repulsion of cells; Interleukin-4 and Interleukin-13 signaling; Neutrophil degranulation","M10 matrix metallopeptidases"
"99",5.40349066251691e-226,0.710788433624103,0.855,0.532,1.2469095052824e-221,"1","RETN","resistin","0, 1, 7","adipocytes, neutrophil granulocyte","This gene belongs to the family defined by the mouse resistin-like genes. The characteristic feature of this family is the C-terminal stretch of 10 cys residues with identical spacing. The mouse homolog of this protein is secreted by adipocytes, and may be the hormone potentially linking obesity to type II diabetes. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]","Neutrophil degranulation",""
"100",5.03211743612101e-176,0.745034975085724,0.788,0.5,1.16121141955928e-171,"1","CCL2","C-C motif chemokine ligand 2","","basophil granulocyte, eosinophil granulocyte, monocyte, neutrophil granulocyte","This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. [provided by RefSeq, Jul 2013]","ATF4 activates genes; Interleukin-10 signaling; Interleukin-4 and Interleukin-13 signaling","Chemokine ligands|Endogenous ligands"
"101",3.03647993774252e-248,1.08816152885382,1,0.811,7.00698110433464e-244,"10","STMN1","stathmin 1","10, 7","","This gene belongs to the stathmin family of genes. It encodes a ubiquitous cytosolic phosphoprotein proposed to function as an intracellular relay integrating regulatory signals of the cellular environment. The encoded protein is involved in the regulation of the microtubule filament system by destabilizing microtubules. It prevents assembly and promotes disassembly of microtubules. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]","","Stathmins"
"102",1.27041240045353e-246,0.965293424228778,0.899,0.34,2.93160365528657e-242,"10","CDK1","cyclin dependent kinase 1","10, 7","cdc, conventional dendritic cell","The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is a catalytic subunit of the highly conserved protein kinase complex known as M-phase promoting factor (MPF), which is essential for G1/S and G2/M phase transitions of eukaryotic cell cycle. Mitotic cyclins stably associate with this protein and function as regulatory subunits. The kinase activity of this protein is controlled by cyclin accumulation and destruction through the cell cycle. The phosphorylation and dephosphorylation of this protein also play important regulatory roles in cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]","MAPK3 (ERK1) activation; E2F-enabled inhibition of pre-replication complex formation; Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1; Golgi Cisternae Pericentriolar Stack Reorganization; Phosphorylation of proteins involved in the G2/M transition by Cyclin A:Cdc2 complexes; APC/C:Cdc20 mediated degradation of Cyclin B; Cdc20:Phospho-APC/C mediated degradation of Cyclin A; Regulation of APC/C activators between G1/S and early anaphase; Phosphorylation of the APC/C; Phosphorylation of Emi1; Condensation of Prophase Chromosomes; MASTL Facilitates Mitotic Progression; Resolution of Sister Chromatid Cohesion; Condensation of Prometaphase Chromosomes; Regulation of PLK1 Activity at G2/M Transition; Activation of NIMA Kinases NEK9, NEK6, NEK7; Nuclear Pore Complex (NPC) Disassembly; Loss of Nlp from mitotic centrosomes; Recruitment of mitotic centrosome proteins and complexes; Loss of proteins required for interphase microtubule organization from the centrosome; Recruitment of NuMA to mitotic centrosomes; Depolymerisation of the Nuclear Lamina; Activation of E2F1 target genes at G1/S; Activation of E2F1 target genes at G1/S; Anchoring of the basal body to the plasma membrane; MAPK6/MAPK4 signaling; Ovarian tumor domain proteases; TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest; Regulation of TP53 Degradation; Mitotic Prophase; Cyclin A/B1/B2 associated events during G2/M transition; Cyclin A/B1/B2 associated events during G2/M transition; G2/M DNA replication checkpoint; Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex; The role of GTSE1 in G2/M progression after G2 checkpoint; AURKA Activation by TPX2; Transcriptional regulation by RUNX2","Cyclin dependent kinases"
"103",4.36861553470347e-244,1.11626088087934,0.957,0.417,1.00810172078817e-239,"10","TOP2A","DNA topoisomerase II alpha","10, 7","","This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [provided by RefSeq, Jul 2010]","Transcription of E2F targets under negative control by DREAM complex; SUMOylation of DNA replication proteins; SUMOylation of DNA replication proteins","Topoisomerases"
"104",3.81510328431592e-232,0.819483199538682,0.808,0.262,8.80373233888742e-228,"10","MKI67","marker of proliferation Ki-67","10, 7","","This gene encodes a nuclear protein that is associated with and may be necessary for cellular proliferation. Alternatively spliced transcript variants have been described. A related pseudogene exists on chromosome X. [provided by RefSeq, Mar 2009]","","Protein phosphatase 1 regulatory subunits"
"105",1.53159638810842e-229,1.11083514358842,0.932,0.421,3.53431182519899e-225,"10","UBE2C","ubiquitin conjugating enzyme E2 C","10, 7","cdc, conventional dendritic cell","The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is required for the destruction of mitotic cyclins and for cell cycle progression, and may be involved in cancer progression. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been defined on chromosomes 4, 14, 15, 18, and 19. [provided by RefSeq, Aug 2013]","Inactivation of APC/C via direct inhibition of the APC/C complex; APC/C:Cdc20 mediated degradation of Cyclin B; Autodegradation of Cdh1 by Cdh1:APC/C; APC/C:Cdc20 mediated degradation of Securin; APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1; Cdc20:Phospho-APC/C mediated degradation of Cyclin A; Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase; Regulation of APC/C activators between G1/S and early anaphase; APC/C:Cdc20 mediated degradation of mitotic proteins; Phosphorylation of the APC/C; APC-Cdc20 mediated degradation of Nek2A; Separation of Sister Chromatids; Senescence-Associated Secretory Phenotype (SASP); CDK-mediated phosphorylation and removal of Cdc6; Synthesis of active ubiquitin: roles of E1 and E2 enzymes; Antigen processing: Ubiquitination & Proteasome degradation","Ubiquitin conjugating enzymes E2"
"106",3.08171766903972e-219,1.26105955182362,0.998,0.791,7.11137169307606e-215,"10","HSPA1A","heat shock protein family A (Hsp70) member 1A","10, 2, 7","neutrophil granulocyte","This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008]","Viral RNP Complexes in the Host Cell Nucleus; Regulation of HSF1-mediated heat shock response; HSP90 chaperone cycle for steroid hormone receptors (SHR); HSF1 activation; Attenuation phase; HSF1-dependent transactivation; AUF1 (hnRNP D0) binds and destabilizes mRNA; Neutrophil degranulation","Heat shock 70kDa proteins|TIM23 complex"
"107",1.4706472855242e-209,0.84597706447608,1,0.865,3.39366567607563e-205,"10","TUBB","tubulin beta class I","10, 7","neutrophil granulocyte","This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014]","Regulation of PLK1 Activity at G2/M Transition; Loss of Nlp from mitotic centrosomes; Recruitment of mitotic centrosome proteins and complexes; Loss of proteins required for interphase microtubule organization from the centrosome; Recruitment of NuMA to mitotic centrosomes; Anchoring of the basal body to the plasma membrane; Neutrophil degranulation; AURKA Activation by TPX2","Tubulins"
"108",4.49729460329812e-209,1.22097190431884,0.989,0.683,1.03779570265707e-204,"10","HSPA1B","heat shock protein family A (Hsp70) member 1B","10, 2, 7","neutrophil granulocyte","This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008]","Regulation of HSF1-mediated heat shock response; HSP90 chaperone cycle for steroid hormone receptors (SHR); HSF1 activation; Attenuation phase; HSF1-dependent transactivation; Neutrophil degranulation","Heat shock 70kDa proteins|TIM23 complex"
"109",1.45356004378154e-208,0.721235836853816,0.806,0.268,3.35423515703029e-204,"10","NUSAP1","nucleolar and spindle associated protein 1","","","NUSAP1 is a nucleolar-spindle-associated protein that plays a role in spindle microtubule organization (Raemaekers et al., 2003 [PubMed 12963707]).[supplied by OMIM, Jun 2009]","",""
"110",1.51989124987032e-207,0.875114807916644,1,0.89,3.50730104820075e-203,"10","TUBA1B","tubulin alpha 1b","10, 7","","Not available","Translocation of SLC2A4 (GLUT4) to the plasma membrane; Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane; Gap junction assembly; MHC class II antigen presentation; Separation of Sister Chromatids; Resolution of Sister Chromatid Cohesion; HSP90 chaperone cycle for steroid hormone receptors (SHR); Recruitment of NuMA to mitotic centrosomes; Formation of tubulin folding intermediates by CCT/TriC; Post-chaperonin tubulin folding pathway; Recycling pathway of L1; Recycling pathway of L1; Hedgehog 'off' state; Cilium Assembly; Intraflagellar transport; RHO GTPases activate IQGAPs; RHO GTPases Activate Formins; COPI-mediated anterograde transport; COPI-dependent Golgi-to-ER retrograde traffic; COPI-independent Golgi-to-ER retrograde traffic; Mitotic Prometaphase; The role of GTSE1 in G2/M progression after G2 checkpoint; Carboxyterminal post-translational modifications of tubulin; Carboxyterminal post-translational modifications of tubulin; Kinesins","Tubulins"
"111",2.10875962668357e-202,1.04352651843936,0.996,0.636,4.866173714535e-198,"10","C1QB","complement C1q B chain","10, 12, 2","","This gene encodes the B-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]","Initial triggering of complement; Classical antibody-mediated complement activation; Regulation of Complement cascade","Complement system activation components|C1q domain containing"
"112",6.0438066357118e-201,0.83592886613006,1,0.879,1.39466881925685e-196,"10","HMGN2","high mobility group nucleosomal binding domain 2","10, 7","","The protein encoded by this gene binds nucleosomal DNA and is associated with transcriptionally active chromatin. Along with a similar protein, HMGN1, the encoded protein may help maintain an open chromatin configuration around transcribable genes. The protein has also been found to have antimicrobial activity against bacteria, viruses and fungi. [provided by RefSeq, Oct 2014]","","Canonical high mobility group"
"113",3.78352059361328e-199,1.08496845743362,0.991,0.813,8.73085212182201e-195,"10","DNAJB1","DnaJ heat shock protein family (Hsp40) member B1","10, 2","","This gene encodes a member of the DnaJ or Hsp40 (heat shock protein 40 kD) family of proteins. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. The encoded protein is a molecular chaperone that stimulates the ATPase activity of Hsp70 heat-shock proteins in order to promote protein folding and prevent misfolded protein aggregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]","Regulation of HSF1-mediated heat shock response; HSP90 chaperone cycle for steroid hormone receptors (SHR); HSF1 activation; Attenuation phase; HSF1-dependent transactivation; MAPK6/MAPK4 signaling","DNAJ (HSP40) heat shock proteins"
"114",1.17371467077813e-196,0.980958542426882,1,0.697,2.70846397428762e-192,"10","C1QA","complement C1q A chain","10, 12, 2","","This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]","Initial triggering of complement; Classical antibody-mediated complement activation; Regulation of Complement cascade","Complement system activation components|C1q domain containing"
"115",1.33797997473272e-195,0.806896849796354,0.799,0.274,3.08752258969322e-191,"10","KLF2","Kruppel like factor 2","","adipocytes","This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is expressed early in mammalian development and is found in many different cell types. The protein acts to bind the CACCC box found in the promoter of target genes to activate their transcription. It plays a role in many processes during development and disease including adipogenesis, embryonic erythropoiesis, epithelial integrity, inflammation and t-cell viability. [provided by RefSeq, Mar 2017]","","Zinc fingers C2H2-type|Kruppel like factors"
"116",1.34818478095413e-192,0.913203990766814,1,0.802,3.11107120052974e-188,"10","AIF1","allograft inflammatory factor 1","10, 12, 2","macrophage, smooth muscle cell","This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]","","EF-hand domain containing"
"117",1.71028006825392e-192,0.690315186828732,0.759,0.239,3.94664228550275e-188,"10","PLD4","phospholipase D family member 4","10, 2","","Not available","Synthesis of PG; Synthesis of IP3 and IP4 in the cytosol; Role of phospholipids in phagocytosis","Phospholipases"
"118",3.74080300662417e-191,0.945993490372443,0.991,0.717,8.63227701808593e-187,"10","HMGB2","high mobility group box 2","10, 3, 9","","This gene encodes a member of the non-histone chromosomal high mobility group protein family. The proteins of this family are chromatin-associated and ubiquitously distributed in the nucleus of higher eukaryotic cells. In vitro studies have demonstrated that this protein is able to efficiently bend DNA and form DNA circles.  These studies suggest a role in facilitating cooperative interactions between cis-acting proteins by promoting DNA flexibility. This protein was also reported to be involved in the final ligation step in DNA end-joining processes of DNA double-strand breaks repair and V(D)J recombination. [provided by RefSeq, Jul 2008]","Activation of DNA fragmentation factor","Canonical high mobility group|SET complex"
"119",1.58473031935816e-188,1.10490012722537,0.995,0.63,3.65692368495088e-184,"10","AGR2","anterior gradient 2, protein disulphide isomerase family member","10, 12, 2","","This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and a C-terminal ER-retention sequence. This protein plays a role in cell migration, cellular transformation and metastasis and is as a p53 inhibitor. As an ER-localized molecular chaperone, it plays a role in the folding, trafficking, and assembly of cysteine-rich transmembrane receptors and the cysteine-rich intestinal gylcoprotein mucin. This gene has been implicated in inflammatory bowel disease and cancer progression. [provided by RefSeq, Mar 2017]","","Protein disulfide isomerases"
"120",7.2169030668895e-185,0.943412896821674,0.914,0.445,1.66537255171542e-180,"10","MS4A6A","membrane spanning 4-domains A6A","10, 12, 2","lymphoid","This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011]","","Membrane spanning 4-domains"
"121",1.52194102397627e-181,0.820717985577318,0.959,0.57,3.51203110692764e-177,"10","CKS1B","CDC28 protein kinase regulatory subunit 1B","10, 7","","CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. At least two transcript variants have been identified for this gene, and it appears that only one of them encodes a protein. [provided by RefSeq, Sep 2008]","SCF(Skp2)-mediated degradation of p27/p21; Cyclin D associated events in G1",""
"122",2.07200061718987e-181,0.96020171747697,1,0.927,4.78134862422734e-177,"10","HSP90AA1","heat shock protein 90 alpha family class A member 1","","neutrophil granulocyte","The protein encoded by this gene is an inducible molecular chaperone that functions as a homodimer. The encoded protein aids in the proper folding of specific target proteins by use of an ATPase activity that is modulated by co-chaperones. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]","Signaling by ERBB2; Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants; Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation; vRNP Assembly; Regulation of actin dynamics for phagocytic cup formation; eNOS activation; Regulation of PLK1 Activity at G2/M Transition; Scavenging by Class F Receptors; Scavenging by Class F Receptors; HSP90 chaperone cycle for steroid hormone receptors (SHR); HSF1 activation; Attenuation phase; HSF1-dependent transactivation; Loss of Nlp from mitotic centrosomes; Recruitment of mitotic centrosome proteins and complexes; Loss of proteins required for interphase microtubule organization from the centrosome; Recruitment of NuMA to mitotic centrosomes; Sema3A PAK dependent Axon repulsion; VEGFA-VEGFR2 Pathway; VEGFA-VEGFR2 Pathway; VEGFR2 mediated vascular permeability; Uptake and function of diphtheria toxin; PIWI-interacting RNA (piRNA) biogenesis; Anchoring of the basal body to the plasma membrane; Constitutive Signaling by EGFRvIII; Interleukin-4 and Interleukin-13 signaling; Neutrophil degranulation; The role of GTSE1 in G2/M progression after G2 checkpoint; AURKA Activation by TPX2; Downregulation of ERBB2 signaling; ESR-mediated signaling; Estrogen-dependent gene expression","Heat shock 90kDa proteins"
"123",3.55747088345986e-179,0.920548507304606,0.998,0.666,8.20921981067197e-175,"10","C1QC","complement C1q C chain","10, 12, 2","","This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]","Initial triggering of complement; Classical antibody-mediated complement activation; Regulation of Complement cascade","Complement system activation components|C1q domain containing"
"124",9.98606638228101e-162,0.731063443609554,0.973,0.672,2.30438467837516e-157,"10","H2AFV","H2A histone family member V","","hematopoietic stem cell, megakaryocyte","Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. Several transcript variants encoding different isoforms, have been identified for this gene. [provided by RefSeq, Oct 2015]","Meiotic synapsis; Packaging Of Telomere Ends; Pre-NOTCH Transcription and Translation; Formation of the beta-catenin:TCF transactivating complex; Formation of the beta-catenin:TCF transactivating complex; PRC2 methylates histones and DNA; Condensation of Prophase Chromosomes; Oxidative Stress Induced Senescence; Senescence-Associated Secretory Phenotype (SASP); DNA Damage/Telomere Stress Induced Senescence; RMTs methylate histone arginines; SIRT1 negatively regulates rRNA expression; ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression; NoRC negatively regulates rRNA expression; NoRC negatively regulates rRNA expression; B-WICH complex positively regulates rRNA expression; DNA methylation; Transcriptional regulation by small RNAs; Activation of anterior HOX genes in hindbrain development during early embryogenesis; Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3; Deposition of new CENPA-containing nucleosomes at the centromere; RNA Polymerase I Promoter Opening; RNA Polymerase I Chain Elongation; RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function; RUNX1 regulates transcription of genes involved in differentiation of HSCs; Estrogen-dependent gene expression; Meiotic recombination","Histones"
"125",8.0897050352676e-161,0.812686103954738,0.934,0.491,1.86678033393835e-156,"10","KIAA0101","KIAA0101","10, 7, 9","","KIAA0101","KIAA0101","KIAA0101"
"126",2.21442152112807e-160,1.17496811224141,0.84,0.399,5.10999910215513e-156,"10","HSPA6","heat shock protein family A (Hsp70) member 6","10, 2","neutrophil granulocyte","Not available","Regulation of HSF1-mediated heat shock response; HSF1 activation; Attenuation phase; HSF1-dependent transactivation; Neutrophil degranulation","Heat shock 70kDa proteins"
"127",2.65307572994952e-156,0.836872462445612,0.964,0.713,6.12223755443151e-152,"10","CKS2","CDC28 protein kinase regulatory subunit 2","10, 7","","CKS2 protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS2 mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects specialized role for the encoded protein. [provided by RefSeq, Jul 2008]","",""
"128",4.32523783849212e-156,0.787063957838753,0.896,0.448,9.98091883610442e-152,"10","PTTG1","pituitary tumor-transforming 1","10, 3","cdc, conventional dendritic cell, fibroblasts","The encoded protein is a homolog of yeast securin proteins, which prevent separins from promoting sister chromatid separation. It is an anaphase-promoting complex (APC) substrate that associates with a separin until activation of the APC. The gene product has transforming activity in vitro and tumorigenic activity in vivo, and the gene is highly expressed in various tumors. The gene product contains 2 PXXP motifs, which are required for its transforming and tumorigenic activities, as well as for its stimulation of basic fibroblast growth factor expression. It also contains a destruction box (D box) that is required for its degradation by the APC. The acidic C-terminal region of the encoded protein can act as a transactivation domain. The gene product is mainly a cytosolic protein, although it partially localizes in the nucleus. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]","APC/C:Cdc20 mediated degradation of Securin; APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1; Separation of Sister Chromatids",""
"129",1.26668355044313e-155,0.842830009972794,0.898,0.449,2.92299896100256e-151,"10","IER5","immediate early response 5","10, 7","","This gene encodes a protein that is similar to other immediate early response proteins. In the mouse, a similar gene may play an important role in mediating the cellular response to mitogenic signals. Studies in rats found the expression of a similar gene to be increased after waking and sleep deprivation. [provided by RefSeq, Jul 2008]","",""
"130",9.06077988721192e-154,0.866769815538232,0.871,0.472,2.09086556677302e-149,"10","KPNA2","karyopherin subunit alpha 2","","","The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]","ISG15 antiviral mechanism; NS1 Mediated Effects on Host Pathways; Sensing of DNA Double Strand Breaks; Estrogen-dependent gene expression","Armadillo repeat containing|Importins"
"131",3.25823967958088e-153,0.703001118935163,1,0.845,7.51871388460084e-149,"10","H2AFZ","H2A histone family member Z","10, 7, 9","hematopoietic stem cell, megakaryocyte","Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. [provided by RefSeq, Jul 2008]","Meiotic synapsis; Packaging Of Telomere Ends; Pre-NOTCH Transcription and Translation; Formation of the beta-catenin:TCF transactivating complex; Formation of the beta-catenin:TCF transactivating complex; PRC2 methylates histones and DNA; Condensation of Prophase Chromosomes; Oxidative Stress Induced Senescence; Senescence-Associated Secretory Phenotype (SASP); DNA Damage/Telomere Stress Induced Senescence; RMTs methylate histone arginines; SIRT1 negatively regulates rRNA expression; ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression; NoRC negatively regulates rRNA expression; NoRC negatively regulates rRNA expression; B-WICH complex positively regulates rRNA expression; DNA methylation; Transcriptional regulation by small RNAs; Activation of anterior HOX genes in hindbrain development during early embryogenesis; Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3; Deposition of new CENPA-containing nucleosomes at the centromere; RNA Polymerase I Promoter Opening; RNA Polymerase I Chain Elongation; RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function; RUNX1 regulates transcription of genes involved in differentiation of HSCs; Estrogen-dependent gene expression; Meiotic recombination; Amyloid fiber formation","Histones"
"132",4.48609315870463e-149,0.700753793810894,0.987,0.766,1.03521085730268e-144,"10","NUCKS1","nuclear casein kinase and cyclin dependent kinase substrate 1","10, 7","","This gene encodes a nuclear protein that is highly conserved in vertebrates. The conserved regions of the protein contain several consensus phosphorylation sites for casein kinase II and cyclin-dependent kinases, two putative nuclear localization signals, and a basic DNA-binding domain. It is phosphorylated in vivo by Cdk1 during mitosis of the cell cycle. [provided by RefSeq, Aug 2010]","",""
"133",6.44440264629515e-147,0.745085946678961,0.996,0.675,1.48711035465907e-142,"10","CD36","CD36 molecule","0, 10, 12, 2","adipocytes, erythrocyte, megakaryocyte, neutrophil granulocyte","The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2014]","Platelet degranulation ; Cross-presentation of particulate exogenous antigens (phagosomes); ER-Phagosome pathway; MyD88:Mal cascade initiated on plasma membrane; Toll Like Receptor TLR6:TLR2 Cascade; PPARA activates gene expression; Scavenging by Class B Receptors; Scavenging by Class B Receptors; Transcriptional regulation of white adipocyte differentiation; MyD88 deficiency (TLR2/4); IRAK4 deficiency (TLR2/4); Regulation of TLR by endogenous ligand; Interleukin-4 and Interleukin-13 signaling; Neutrophil degranulation","CD molecules|Scavenger receptors"
"134",7.36654518375641e-146,0.743777829697075,0.984,0.585,1.69990396660363e-141,"10","FOLR2","folate receptor beta","10, 2","macrophage","The protein encoded by this gene is a member of the folate receptor (FOLR) family, and these genes exist in a cluster on chromosome 11. Members of this gene family have a high affinity for folic acid and for several reduced folic acid derivatives, and they mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This protein has a 68% and 79% sequence homology with the FOLR1 and FOLR3 proteins, respectively. Although this protein was originally thought to be specific to placenta, it can also exist in other tissues, and it may play a role in the transport of methotrexate in synovial macrophages in rheumatoid arthritis patients. Multiple transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]","Post-translational modification: synthesis of GPI-anchored proteins; Metabolism of folate and pterines",""
"135",7.30482876601995e-143,0.683169642097816,0.801,0.345,1.68566228604676e-138,"10","RNASE6","ribonuclease A family member k6","10, 12, 2","","The protein encoded by this gene is a member of the ribonuclease A superfamily and functions in the urinary tract. The protein has broad-spectrum antimicrobial activity against pathogenic bacteria. [provided by RefSeq, Nov 2014]","Antimicrobial peptides","Ribonuclease A family"
"136",1.16466562629814e-142,1.24372235382351,0.925,0.636,2.68758239924559e-138,"10","HIST1H4C","histone cluster 1 H4 family member c","10, 3, 7","hematopoietic stem cell, megakaryocyte","Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]","Meiotic synapsis; Packaging Of Telomere Ends; Pre-NOTCH Transcription and Translation; Formation of the beta-catenin:TCF transactivating complex; Formation of the beta-catenin:TCF transactivating complex; PRC2 methylates histones and DNA; Condensation of Prophase Chromosomes; Oxidative Stress Induced Senescence; Senescence-Associated Secretory Phenotype (SASP); DNA Damage/Telomere Stress Induced Senescence; HDACs deacetylate histones; PKMTs methylate histone lysines; HDMs demethylate histones; HATs acetylate histones; HATs acetylate histones; RMTs methylate histone arginines; SIRT1 negatively regulates rRNA expression; ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression; NoRC negatively regulates rRNA expression; NoRC negatively regulates rRNA expression; SUMOylation of chromatin organization proteins; B-WICH complex positively regulates rRNA expression; DNA methylation; Transcriptional regulation by small RNAs; Activation of anterior HOX genes in hindbrain development during early embryogenesis; Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3; Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks; Nonhomologous End-Joining (NHEJ); Processing of DNA double-strand break ends; Deposition of new CENPA-containing nucleosomes at the centromere; G2/M DNA damage checkpoint; RNA Polymerase I Promoter Opening; RNA Polymerase I Chain Elongation; RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function; RUNX1 regulates transcription of genes involved in differentiation of HSCs; Estrogen-dependent gene expression; Meiotic recombination; Amyloid fiber formation","Histones"
"137",4.4052436331725e-142,0.68575879060732,0.806,0.341,1.01655402079089e-137,"10","MS4A4A","membrane spanning 4-domains A4A","10, 12, 2","lymphoid","This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features, similar intron/exon splice boundaries, and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]","","Membrane spanning 4-domains"
"138",5.10120609405436e-142,0.816132665908708,0.959,0.622,1.17715431826398e-137,"10","HSPH1","heat shock protein family H (Hsp110) member 1","","hematopoietic stem cell","This gene encodes a member of the heat shock protein 70 family of proteins. The encoded protein functions as a nucleotide exchange factor for the molecular chaperone heat shock cognate 71 kDa protein (Hsc70). In addition, this protein plays a distinct but related role as a holdase that inhibits the aggregation of misfolded proteins, including the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Elevated expression of this protein has been observed in numerous human cancers. [provided by RefSeq, Mar 2017]","Scavenging by Class F Receptors; Scavenging by Class F Receptors; Regulation of HSF1-mediated heat shock response; HSF1 activation; Attenuation phase; HSF1-dependent transactivation","Heat shock 70kDa proteins"
"139",9.38639211303232e-142,0.81363290092476,0.846,0.414,2.16600384400334e-137,"10","BAG3","BCL2 associated athanogene 3","","hematopoietic stem cell","BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]","Regulation of HSF1-mediated heat shock response","BCL2 associated athanogene family"
"140",4.99697913845627e-140,0.763246382811919,1,0.904,1.15310290599017e-135,"10","HSPB1","heat shock protein family B (small) member 1","10, 2","","This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct folding of other proteins. This protein plays an important role in the differentiation of a wide variety of cell types. Expression of this gene is correlated with poor clinical outcome in multiple human cancers, and the encoded protein may promote cancer cell proliferation and metastasis, while protecting cancer cells from apoptosis. Mutations in this gene have been identified in human patients with Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. [provided by RefSeq, Aug 2017]","Regulation of HSF1-mediated heat shock response; HSF1 activation; Attenuation phase; HSF1-dependent transactivation; VEGFA-VEGFR2 Pathway; AUF1 (hnRNP D0) binds and destabilizes mRNA; MAPK6/MAPK4 signaling","Small heat shock proteins"
"141",1.79420919425635e-135,0.860176776529391,0.828,0.389,4.14031713666596e-131,"10","NR4A2","nuclear receptor subfamily 4 group A member 2","10, 2","","This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]","Nuclear Receptor transcription pathway; SUMOylation of intracellular receptors","Nuclear hormone receptors"
"142",6.37725672692399e-133,0.674756050747901,0.957,0.543,1.47161576230498e-128,"10","CSF1R","colony stimulating factor 1 receptor","","macrophage, myeloid","The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma. [provided by RefSeq, Mar 2017]","Other interleukin signaling","Receptor tyrosine kinases|CD molecules|Immunoglobulin like domain containing"
"143",9.95074128991854e-131,0.854869056451184,0.964,0.747,2.2962330600616e-126,"10","ARL6IP1","ADP ribosylation factor like GTPase 6 interacting protein 1","","myeloid, progenitor","This gene belongs to the ARL6ip family and encodes a transmembrane protein that is predominantly localized to intracytoplasmic membranes. It is highly expressed in early myeloid progenitor cells and thought to be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Mutations in this gene are associated with spastic paraplegia 61 (SPG61). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]","",""
"144",7.36899229446323e-130,0.672000773362037,0.998,0.864,1.70046866187033e-125,"10","HSPE1","heat shock protein family E (Hsp10) member 1","","","This gene encodes a major heat shock protein which functions as a chaperonin. Its structure consists of a heptameric ring which binds to another heat shock protein in order to form a symmetric, functional heterodimer which enhances protein folding in an ATP-dependent manner. This gene and its co-chaperonin, HSPD1, are arranged in a head-to-head orientation on chromosome 2. Naturally occurring read-through transcription occurs between this locus and the neighboring locus MOBKL3.[provided by RefSeq, Feb 2011]","","Chaperonins"
"145",8.26401146249265e-130,0.723599406941033,0.998,0.877,1.9070032850848e-125,"10","SAT1","spermidine/spermine N1-acetyltransferase 1","10, 12, 15, 2, 20","","The protein encoded by this gene belongs to the acetyltransferase family, and is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the acetylation of spermidine and spermine, and is involved in the regulation of the intracellular concentration of polyamines and their transport out of cells. Defects in this gene are associated with keratosis follicularis spinulosa decalvans (KFSD). Alternatively spliced transcripts have been found for this gene.[provided by RefSeq, Sep 2009]","Interconversion of polyamines","GCN5 related N-acetyltransferases"
"146",3.05181351734629e-128,0.909079290044638,1,0.792,7.0423648726283e-124,"10","RNASE1","ribonuclease A family member 1, pancreatic","0, 1, 10, 2","","This gene encodes a member of the pancreatic-type of secretory ribonucleases, a subset of the ribonuclease A superfamily. The encoded endonuclease cleaves internal phosphodiester RNA bonds on the 3'-side of pyrimidine bases. It prefers poly(C) as a substrate and hydrolyzes 2',3'-cyclic nucleotides, with a pH optimum near 8.0. The encoded protein is monomeric and more commonly acts to degrade ds-RNA over ss-RNA. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]","","Ribonuclease A family"
"147",6.32400362959264e-124,0.875649940721902,0.874,0.529,1.4593270775648e-119,"10","ZFAND2A","zinc finger AN1-type containing 2A","10, 2","","Not available","","Zinc fingers AN1-type"
"148",1.08517762686197e-121,0.7207028869784,0.901,0.544,2.50415589174667e-117,"10","RHOB","ras homolog family member B","10, 2","","Not available","GPVI-mediated activation cascade; Rho GTPase cycle; G alpha (12/13) signalling events; Sema4D induced cell migration and growth-cone collapse; Sema4D induced cell migration and growth-cone collapse; RHO GTPases activate PKNs; RHO GTPases activate CIT; RHO GTPases activate CIT; RHO GTPases Activate ROCKs; RHO GTPases Activate ROCKs; RHO GTPases Activate Formins; RHO GTPases Activate Rhotekin and Rhophilins","Rho family GTPases"
"149",4.71367946540047e-110,0.736582740084032,0.813,0.44,1.08772867343581e-105,"10","RGS2","regulator of G protein signaling 2","10, 2","myeloid","Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 2 belongs to this family. The protein acts as a mediator of myeloid differentiation and may play a role in leukemogenesis. [provided by RefSeq, Aug 2009]","G alpha (q) signalling events","Endogenous ligands|Regulators of G-protein signaling"
"150",7.23415003741217e-91,0.696190882090505,0.934,0.648,1.66935246263323e-86,"10","HMOX1","heme oxygenase 1","0, 10, 12, 2","","Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. [provided by RefSeq, Jul 2008]","Heme degradation; Interleukin-4 and Interleukin-13 signaling; Iron uptake and transport",""
"151",0,2.94033031828787,0.998,0.16,0,"11","RAMP2","receptor activity modifying protein 2","","","The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP2) protein, CRLR functions as an adrenomedullin receptor. The RAMP2 protein is involved in core glycosylation and transportation of adrenomedullin receptor to the cell surface. [provided by RefSeq, Jul 2008]","G alpha (s) signalling events; Calcitonin-like ligand receptors","Receptor (G protein-coupled) activity modifying proteins"
"152",0,2.48118651050713,0.961,0.065,0,"11","TM4SF1","transmembrane 4 L six family member 1","","","The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface antigen and is highly expressed in different carcinomas. [provided by RefSeq, Jul 2008]","",""
"153",0,2.31158768282705,0.996,0.31,0,"11","GNG11","G protein subunit gamma 11","11, 13","","This gene is a member of the guanine nucleotide-binding protein (G protein) gamma family and encodes a lipid-anchored, cell membrane protein. As a member of the heterotrimeric G protein complex, this protein plays a role in this transmembrane signaling system. This protein is also subject to carboxyl-terminal processing. Decreased expression of this gene is associated with splenic marginal zone lymphomas. [provided by RefSeq, Jul 2008]","Glucagon signaling in metabolic regulation; G-protein activation; Glucagon-like Peptide-1 (GLP1) regulates insulin secretion; Glucagon-like Peptide-1 (GLP1) regulates insulin secretion; ADP signalling through P2Y purinoceptor 12; G beta:gamma signalling through PI3Kgamma; Prostacyclin signalling through prostacyclin receptor; Prostacyclin signalling through prostacyclin receptor; Adrenaline,noradrenaline inhibits insulin secretion; Adrenaline,noradrenaline inhibits insulin secretion; Ca2+ pathway; Ca2+ pathway; G alpha (q) signalling events; G alpha (12/13) signalling events; G beta:gamma signalling through PLC beta; G alpha (s) signalling events; ADP signalling through P2Y purinoceptor 1; ADP signalling through P2Y purinoceptor 1; G alpha (i) signalling events; G alpha (z) signalling events; Glucagon-type ligand receptors; Thromboxane signalling through TP receptor; Vasopressin regulates renal water homeostasis via Aquaporins; Thrombin signalling through proteinase activated receptors (PARs); Thrombin signalling through proteinase activated receptors (PARs); Presynaptic function of Kainate receptors; Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding","G protein subunits gamma"
"154",0,2.22501483862326,0.973,0.099,0,"11","PLVAP","plasmalemma vesicle associated protein","","","Not available","",""
"155",0,2.18969393057583,0.958,0.035,0,"11","CLDN5","claudin 5","","endothelial cells","This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Mutations in this gene have been found in patients with velocardiofacial syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]","Tight junction interactions; RUNX1 regulates expression of components of tight junctions","Claudins"
"156",0,2.07313817520583,0.923,0.303,0,"11","VAMP5","vesicle associated membrane protein 5","","","Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of vesicles and cell membranes. The VAMP5 gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family and the SNARE superfamily. This VAMP family member may participate in vesicle trafficking events that are associated with myogenesis. [provided by RefSeq, Jul 2008]","","Vesicle associated membrane proteins"
"157",0,1.93258733096235,0.988,0.366,0,"11","MARCKSL1","MARCKS like 1","","","This gene encodes a member of the myristoylated alanine-rich C-kinase substrate (MARCKS) family. Members of this family play a role in cytoskeletal regulation, protein kinase C signaling and calmodulin signaling. The encoded protein affects the formation of adherens junction. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on the long arm of chromosomes 6 and 10. [provided by RefSeq, Jun 2012]","",""
"158",0,1.87484129426848,0.975,0.033,0,"11","ECSCR.1","ECSCR.1","","","ECSCR.1","ECSCR.1","ECSCR.1"
"159",0,1.86845577375202,0.987,0.356,0,"11","TFPI","tissue factor pathway inhibitor","11, 20, 6","","This gene encodes a Kunitz-type serine protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. Inhibition of the encoded protein restores hemostasis in animal models of hemophilia. This gene encodes multiple protein isoforms that differ in their inhibitory activity, specificity and cellular localization. [provided by RefSeq, Jul 2016]","Extrinsic Pathway of Fibrin Clot Formation",""
"160",0,1.8249204987138,0.996,0.109,0,"11","S100A16","S100 calcium binding protein A16","","","Not available","","S100 calcium binding proteins|EF-hand domain containing"
"161",0,1.79343833565684,0.965,0.27,0,"11","PRCP","prolylcarboxypeptidase","","neutrophil granulocyte","This gene encodes a member of the peptidase S28 family of serine exopeptidases. The encoded preproprotein is proteolytically processed to generate the mature lysosomal prolylcarboxypeptidase. This enzyme cleaves C-terminal amino acids linked to proline in peptides such as angiotension II, III and des-Arg9-bradykinin. The cleavage occurs at acidic pH, but the enzyme activity is retained with some substrates at neutral pH. This enzyme has been shown to be an activator of the cell matrix-associated prekallikrein. The importance of angiotension II, one of the substrates of this enzyme, in regulating blood pressure and electrolyte balance suggests that this gene may be related to essential hypertension. A pseudogene of this gene has been identified on chromosome 2. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]","Intrinsic Pathway of Fibrin Clot Formation; Neutrophil degranulation","Minor histocompatibility antigens|M14 carboxypeptidases"
"162",0,1.76433463999903,0.938,0.039,0,"11","KDR","kinase insert domain receptor","","endothelial cells","Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009]","Neurophilin interactions with VEGF and VEGFR; VEGF binds to VEGFR leading to receptor dimerization; Integrin cell surface interactions; VEGFA-VEGFR2 Pathway; VEGFA-VEGFR2 Pathway; VEGFR2 mediated cell proliferation","Receptor tyrosine kinases|CD molecules|V-set domain containing|I-set domain containing|Immunoglobulin like domain containing"
"163",0,1.68798917649568,0.96,0.053,0,"11","ESAM","endothelial cell adhesion molecule","","","Not available","Cell surface interactions at the vascular wall","V-set domain containing|Immunoglobulin like domain containing|IgCAM CXADR-related subfamily"
"164",0,1.67625289319268,0.973,0.165,0,"11","ICAM2","intercellular adhesion molecule 2","","lymphoid","The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; Integrin cell surface interactions; CD209 (DC-SIGN) signaling","CD molecules|Endogenous ligands|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family"
"165",0,1.63253871957847,0.8,0.068,0,"11","SDPR","SDPR","11, 13","","SDPR","SDPR","SDPR"
"166",0,1.52244242432363,0.721,0.019,0,"11","MADCAM1","mucosal vascular addressin cell adhesion molecule 1","","endothelial cells, lymphoid, myeloid","The protein encoded by this gene is an endothelial cell adhesion molecule that interacts preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4beta7), L-selectin, and VLA-4 (alpha4beta1) on myeloid cells to direct leukocytes into mucosal and inflamed tissues. It is a member of the immunoglobulin family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encoding different protein isoforms have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; Integrin cell surface interactions","Immunoglobulin like domain containing|Ig-like cell adhesion molecule family"
"167",0,1.49856373015295,0.746,0.024,0,"11","APLNR","apelin receptor","","","This gene encodes a member of the G protein-coupled receptor gene family. The encoded protein is related to the angiotensin receptor, but is actually an apelin receptor that inhibits adenylate cyclase activity and plays a counter-regulatory role against the pressure action of angiotensin II by exerting hypertensive effect. It functions in the cardiovascular and central nervous systems, in glucose metabolism, in embryonic and tumor angiogenesis and as a human immunodeficiency virus (HIV-1) coreceptor. Two transcript variants resulting from alternative splicing have been identified. [provided by RefSeq, Jul 2009]","Peptide ligand-binding receptors; G alpha (i) signalling events","Peptide receptors"
"168",0,1.42294245037371,0.906,0.075,0,"11","CRIP2","cysteine rich protein 2","","","This gene encodes a putative transcription factor with two LIM zinc-binding domains. The encoded protein may participate in the differentiation of smooth muscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]","","LIM domain containing"
"169",0,1.40659278465671,0.744,0.011,0,"11","CLEC14A","C-type lectin domain containing 14A","","endothelial cells","This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This family member plays a role in cell-cell adhesion and angiogenesis. It functions in filopodia formation, cell migration and tube formation. Due to its presence at higher levels in tumor endothelium than in normal tissue endothelium, it is considered to be a candidate for tumor vascular targeting. [provided by RefSeq, Jan 2012]","","C-type lectin domain containing"
"170",0,1.40366809874476,0.854,0.036,0,"11","CALCRL","calcitonin receptor like receptor","","","Not available","G alpha (s) signalling events; Calcitonin-like ligand receptors","Calcitonin receptors"
"171",0,1.39932413456094,0.9,0.14,0,"11","PLK2","polo like kinase 2","","","The protein encoded by this gene is a member of the polo family of serine/threonine protein kinases that have a role in normal cell division. This gene is most abundantly expressed in testis, spleen and fetal tissues, and its expression is inducible by serum, suggesting that it may also play an important role in cells undergoing rapid cell division. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]","TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain",""
"172",0,1.39783911953151,0.543,0.052,0,"11","HPGD","15-hydroxyprostaglandin dehydrogenase","","","This gene encodes a member of the short-chain nonmetalloenzyme alcohol dehydrogenase protein family. The encoded enzyme is responsible for the metabolism of prostaglandins, which function in a variety of physiologic and cellular processes such as inflammation. Mutations in this gene result in primary autosomal recessive hypertrophic osteoarthropathy and cranioosteoarthropathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]","Synthesis of Lipoxins (LX); Synthesis of Prostaglandins (PG) and Thromboxanes (TX); Biosynthesis of D-series resolvins; Biosynthesis of E-series 18(S)-resolvins","Short chain dehydrogenase/reductase superfamily"
"173",0,1.39231506160657,0.848,0.07,0,"11","CAV1","caveolin 1","","","The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]","Triglyceride catabolism; eNOS activation; NOSTRIN mediated eNOS trafficking; Basigin interactions; Disassembly of the destruction complex and recruitment of AXIN to the membrane; VEGFR2 mediated vascular permeability",""
"174",0,1.3619709400023,0.802,0.21,0,"11","CD320","CD320 molecule","","b cell","This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]","Cobalamin (Cbl, vitamin B12) transport and metabolism; Defective CD320 causes methylmalonic aciduria","CD molecules"
"175",0,1.32329399508917,0.881,0.163,0,"11","HYAL2","hyaluronidase 2","","","This gene encodes a weak acid-active hyaluronidase. The encoded protein is similar in structure to other more active hyaluronidases. Hyaluronidases degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan and fragments of hyaluronan are thought to be involved in cell proliferation, migration and differentiation. Although it was previously thought to be a lysosomal hyaluronidase that is active at a pH below 4, the encoded protein is likely a GPI-anchored cell surface protein. This hyaluronidase serves as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. This gene encodes two alternatively spliced transcript variants which differ only in the 5' UTR.[provided by RefSeq, Mar 2010]","Hyaluronan uptake and degradation","Hyaluronidases"
"176",0,1.31311683264803,0.474,0.023,0,"11","FCGR2B","Fc fragment of IgG receptor IIb","","b cell, lymphoid","The protein encoded by this gene is a low affinity receptor for the Fc region of immunoglobulin gamma complexes. The encoded protein is involved in the phagocytosis of immune complexes and in the regulation of antibody production by B-cells. Variations in this gene may increase susceptibilty to systemic lupus erythematosus (SLE). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell","CD molecules|Immunoglobulin like domain containing"
"177",0,1.3124902487958,0.952,0.113,0,"11","LDB2","LIM domain binding 2","","neuron retina horizontal cell","The protein encoded by this gene belongs to the LIM-domain binding family. Members of this family are characterized by a conserved nuclear localization sequence, an amino-terminal homodimerization domain and a carboxy-terminal LIM interaction domain. These proteins function as adapter molecules to allow assembly of transcriptional regulatory complexes. Genetic association studies suggest functions for this gene in rhegmatogenous retinal detachment and coronary artery disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]","",""
"178",0,1.30880405115625,0.52,0.031,0,"11","EDN1","endothelin 1","","","This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]","Peptide ligand-binding receptors; G alpha (q) signalling events","Endogenous ligands"
"179",0,1.28419876878137,0.871,0.076,0,"11","ARHGAP29","Rho GTPase activating protein 29","","","Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]","Rho GTPase cycle","Rho GTPase activating proteins"
"180",0,1.27059771340765,0.366,0.025,0,"11","GJA4","gap junction protein alpha 4","","","This gene encodes a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq, Jul 2008]","Gap junction assembly","Gap junction proteins"
"181",0,1.23256365636396,0.896,0.263,0,"11","CD93","CD93 molecule","","myeloid, neutrophil granulocyte","The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be a receptor for C1q, but now is thought to instead be involved in intercellular adhesion and in the clearance of apoptotic cells. The intracellular cytoplasmic tail of this protein has been found to interact with moesin, a protein known to play a role in linking transmembrane proteins to the cytoskeleton and in the remodelling of the cytoskeleton. [provided by RefSeq, Jul 2008]","Neutrophil degranulation","CD molecules|C-type lectin domain containing|Complement system regulators and receptors"
"182",0,1.22744283447089,0.85,0.026,0,"11","CDH5","cadherin 5","","","This gene encodes a classical cadherin of the cadherin superfamily. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Functioning as a classical cadherin by imparting to cells the ability to adhere in a homophilic manner, this protein plays a role in endothelial adherens junction assembly and maintenance. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. [provided by RefSeq, Nov 2015]","Adherens junctions interactions; VEGFR2 mediated vascular permeability","CD molecules|Type II classical cadherins"
"183",0,1.21026887632071,0.888,0.066,0,"11","PECAM1","platelet and endothelial cell adhesion molecule 1","","endothelial cells, megakaryocyte, monocyte, neutrophil granulocyte","The protein encoded by this gene is found on the surface of platelets, monocytes, neutrophils, and some types of T-cells, and makes up a large portion of endothelial cell intercellular junctions. The encoded protein is a member of the immunoglobulin superfamily and is likely involved in leukocyte migration, angiogenesis, and integrin activation. [provided by RefSeq, May 2010]","Platelet degranulation ; Cell surface interactions at the vascular wall; PECAM1 interactions; Integrin cell surface interactions; Platelet sensitization by LDL; Neutrophil degranulation","CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family"
"184",0,1.20823125941207,0.788,0.01,0,"11","EMCN","endomucin","","","EMCN is a mucin-like sialoglycoprotein that interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix (Kinoshita et al., 2001 [PubMed 11418125]).[supplied by OMIM, Mar 2008]","","Mucins"
"185",0,1.19584488749359,0.696,0.082,0,"11","PRSS23","serine protease 23","","","This gene encodes a conserved member of the trypsin family of serine proteases. Mouse studies found a decrease of mRNA levels of this gene after ovulation was induced. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]","Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Post-translational protein phosphorylation","Serine proteases"
"186",0,1.19228400169603,0.798,0.056,0,"11","FLT1","fms related tyrosine kinase 1","","endothelial cells, monocyte","This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009]","Neurophilin interactions with VEGF and VEGFR; VEGF binds to VEGFR leading to receptor dimerization","Receptor tyrosine kinases|I-set domain containing|Immunoglobulin like domain containing"
"187",0,1.18722412524475,0.759,0.009,0,"11","PCAT19","prostate cancer associated transcript 19","","","Not available","",""
"188",0,1.18567900943825,0.857,0.205,0,"11","GIMAP4","GTPase, IMAP family member 4","","","This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The encoded protein of this gene may be negatively regulated by T-cell acute lymphocytic leukemia 1 (TAL1). In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]","","GTPases, IMAP"
"189",0,1.17785678322022,0.723,0.078,0,"11","HSPG2","heparan sulfate proteoglycan 2","","smooth muscle cell","This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and transthyretin, etc., and it plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and tardive dyskinesia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]","Degradation of the extracellular matrix; Degradation of the extracellular matrix; A tetrasaccharide linker sequence is required for GAG synthesis; HS-GAG biosynthesis; HS-GAG biosynthesis; HS-GAG degradation; Integrin cell surface interactions; Laminin interactions; Laminin interactions; Non-integrin membrane-ECM interactions; Non-integrin membrane-ECM interactions; ECM proteoglycans; Defective B4GALT7 causes EDS, progeroid type; Defective B3GAT3 causes JDSSDHD; Defective EXT2 causes exostoses 2; Defective EXT1 causes exostoses 1, TRPS2 and CHDS; Defective B3GALT6 causes EDSP2 and SEMDJL1; Retinoid metabolism and transport; Amyloid fiber formation","Proteoglycans|I-set domain containing|Immunoglobulin like domain containing"
"190",0,1.15452863199376,0.79,0.01,0,"11","ADGRL4","adhesion G protein-coupled receptor L4","","","Not available","","Adhesion G protein-coupled receptors, subfamily L"
"191",1.07826403290041e-274,1.63848922226526,0.911,0.342,2.48820208232098e-270,"11","ID3","inhibitor of DNA binding 3, HLH protein","","","The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with other HLH proteins. However, the encoded protein lacks a basic DNA-binding domain and therefore inhibits the DNA binding of any HLH protein with which it interacts. [provided by RefSeq, Aug 2011]","","Basic helix-loop-helix proteins"
"192",9.55636738862338e-274,1.29155778509554,0.987,0.558,2.20522733859873e-269,"11","RHOC","ras homolog family member C","","","This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The protein encoded by this gene is prenylated at its C-terminus, and localizes to the cytoplasm and plasma membrane. It is thought to be important in cell locomotion. Overexpression of this gene is associated with tumor cell proliferation and metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]","Rho GTPase cycle; G alpha (12/13) signalling events; Sema4D induced cell migration and growth-cone collapse; Sema4D induced cell migration and growth-cone collapse; RHO GTPases activate PKNs; RHO GTPases activate CIT; RHO GTPases activate CIT; RHO GTPases Activate ROCKs; RHO GTPases Activate ROCKs; RHO GTPases Activate Formins; RHO GTPases Activate Rhotekin and Rhophilins","Rho family GTPases"
"193",1.53288696968615e-266,1.20128837046942,0.952,0.489,3.53728997124776e-262,"11","CCDC85B","coiled-coil domain containing 85B","","","Hepatitis delta virus (HDV) is a pathogenic human virus whose RNA genome and replication cycle resemble those of plant viroids. Delta-interacting protein A (DIPA), a cellular gene product, has been found to have homology to hepatitis delta virus antigen (HDAg). DIPA interacts with the viral antigen, HDAg, and can affect HDV replication in vitro. [provided by RefSeq, Jul 2008]","",""
"194",6.54343519908921e-263,1.40195728393014,1,0.677,1.50996310654183e-258,"11","ANXA2","annexin A2","11, 16","neutrophil granulocyte, osteoclast","This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","Smooth Muscle Contraction; Neutrophil degranulation; Dissolution of Fibrin Clot; Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation","Annexins"
"195",4.83984426041791e-241,1.22633217491168,0.931,0.492,1.11684246153404e-236,"11","RDX","radixin","","","Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]","Recycling pathway of L1; Recycling pathway of L1","Deafness associated genes|FERM domain containing"
"196",1.00352584660336e-233,1.18853335972719,0.994,0.572,2.31573624362191e-229,"11","NGFRAP1","NGFRAP1","11, 4","","NGFRAP1","NGFRAP1","NGFRAP1"
"197",1.24828819810029e-231,1.3130520255131,0.894,0.313,2.88054984593623e-227,"11","HES1","hes family bHLH transcription factor 1","11, 6","osteoblast, progenitor","This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of basic domain that contains a helix interrupting protein that binds to the N-box rather than the canonical E-box. [provided by RefSeq, Jul 2008]","Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells; NOTCH1 Intracellular Domain Regulates Transcription; NOTCH2 intracellular domain regulates transcription; Constitutive Signaling by NOTCH1 PEST Domain Mutants; Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants; RUNX2 regulates osteoblast differentiation; RUNX3 regulates NOTCH signaling; RUNX3 regulates NOTCH signaling; NOTCH3 Intracellular Domain Regulates Transcription; NOTCH4 Intracellular Domain Regulates Transcription","Basic helix-loop-helix proteins"
"198",8.56587886752012e-145,1.17073847815615,0.886,0.539,1.97666220746894e-140,"11","ARGLU1","arginine and glutamate rich 1","","","Not available","",""
"199",1.31636835637187e-141,1.46938621939214,0.486,0.127,3.03765161916374e-137,"11","CD24","CD24 molecule","11, 18","b cell, progenitor","This gene encodes a sialoglycoprotein that is expressed on mature granulocytes and B cells and modulates growth and differentiation signals to these cells. The precursor protein is cleaved to a short 32 amino acid mature peptide which is anchored via a glycosyl phosphatidylinositol (GPI) link to the cell surface. This gene was missing from previous genome assemblies, but is properly located on chromosome 6. Non-transcribed pseudogenes have been designated on chromosomes 1, 15, 20, and Y. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]","L1CAM interactions","CD molecules"
"200",5.61600797389641e-92,1.53095061298712,0.437,0.148,1.29595000005634e-87,"11","ACP5","acid phosphatase 5, tartrate resistant","","","This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008]","Vitamin B2 (riboflavin) metabolism","Acid phosphatases"
"201",1.5603441048267e-147,1.07721689540945,0.989,0.639,3.60065005629809e-143,"12","C1QB","complement C1q B chain","10, 12, 2","","This gene encodes the B-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]","Initial triggering of complement; Classical antibody-mediated complement activation; Regulation of Complement cascade","Complement system activation components|C1q domain containing"
"202",6.88945773616467e-147,0.990057018714113,0.998,0.669,1.58981126719736e-142,"12","C1QC","complement C1q C chain","10, 12, 2","","This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]","Initial triggering of complement; Classical antibody-mediated complement activation; Regulation of Complement cascade","Complement system activation components|C1q domain containing"
"203",1.92837077157808e-137,0.96932808380731,0.899,0.449,4.44990839249358e-133,"12","MS4A6A","membrane spanning 4-domains A6A","10, 12, 2","lymphoid","This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011]","","Membrane spanning 4-domains"
"204",1.80397678369361e-131,0.781241320439834,0.974,0.645,4.16285682605137e-127,"12","LST1","leukocyte specific transcript 1","12, 2","","The protein encoded by this gene is a membrane protein that can inhibit the proliferation of lymphocytes. Expression of this gene is enhanced by lipopolysaccharide, interferon-gamma, and bacteria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]","",""
"205",1.30632292082134e-129,0.965503228103388,0.989,0.7,3.01447077208733e-125,"12","C1QA","complement C1q A chain","10, 12, 2","","This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]","Initial triggering of complement; Classical antibody-mediated complement activation; Regulation of Complement cascade","Complement system activation components|C1q domain containing"
"206",9.58721416594372e-120,1.27674925766242,0.759,0.371,2.21234554093317e-115,"12","SLC40A1","solute carrier family 40 member 1","12, 2","macrophage","The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]","Metal ion SLC transporters; Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages); Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum); Iron uptake and transport","Solute carriers"
"207",1.94678287570106e-109,0.769800128357695,1,0.803,4.49239616396777e-105,"12","AIF1","allograft inflammatory factor 1","10, 12, 2","macrophage, smooth muscle cell","This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]","","EF-hand domain containing"
"208",2.55580168578611e-107,0.715307373543016,0.912,0.589,5.89776797012002e-103,"12","UCP2","uncoupling protein 2","","","Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed in many tissues, with the greatest expression in skeletal muscle. It is thought to play a role in nonshivering thermogenesis, obesity and diabetes. Chromosomal order is 5'-UCP3-UCP2-3'. [provided by RefSeq, Jul 2008]","The fatty acid cycling model; The proton buffering model","Solute carriers"
"209",5.56511866683426e-105,0.635228949502594,0.919,0.507,1.28420678355867e-100,"12","SPI1","Spi-1 proto-oncogene","","hematopoietic stem cell, lymphoid, myeloid","This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","RUNX1 regulates transcription of genes involved in differentiation of HSCs","ETS transcription factor family"
"210",9.040336053557e-100,0.647437977201011,0.936,0.62,2.08614794771881e-95,"12","PYCARD","PYD and CARD domain containing","12, 2","neutrophil granulocyte","This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","CLEC7A/inflammasome pathway; Neutrophil degranulation; The NLRP3 inflammasome; The AIM2 inflammasome","Caspase recruitment domain containing|Pyrin domain containing"
"211",6.91278213063497e-99,0.646084846360835,0.998,0.878,1.59519360446533e-94,"12","SAT1","spermidine/spermine N1-acetyltransferase 1","10, 12, 15, 2, 20","","The protein encoded by this gene belongs to the acetyltransferase family, and is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the acetylation of spermidine and spermine, and is involved in the regulation of the intracellular concentration of polyamines and their transport out of cells. Defects in this gene are associated with keratosis follicularis spinulosa decalvans (KFSD). Alternatively spliced transcripts have been found for this gene.[provided by RefSeq, Sep 2009]","Interconversion of polyamines","GCN5 related N-acetyltransferases"
"212",1.54229934261701e-98,0.536244547249254,0.748,0.316,3.559009963023e-94,"12","SAMHD1","SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1","","","This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]","Nucleobase catabolism; Interferon alpha/beta signaling","Sterile alpha motif domain containing"
"213",5.95279946379987e-97,0.710468230153079,0.914,0.584,1.37366800426646e-92,"12","CREG1","cellular repressor of E1A stimulated genes 1","0, 12","neutrophil granulocyte","The adenovirus E1A protein both activates and represses gene expression to promote cellular proliferation and inhibit differentiation. The protein encoded by this gene antagonizes transcriptional activation and cellular transformation by E1A. This protein shares limited sequence similarity with E1A and binds both the general transcription factor TBP and the tumor suppressor pRb in vitro. This gene may contribute to the transcriptional control of cell growth and differentiation. [provided by RefSeq, Jul 2008]","Neutrophil degranulation",""
"214",7.85775249534645e-92,0.62127343788861,0.796,0.371,1.81325496582615e-87,"12","MS4A7","membrane spanning 4-domains A7","12, 2","lymphoid","This gene encodes a member of the membrane-spanning 4A gene family, members of which are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. This family member is associated with mature cellular function in the monocytic lineage, and it may be a component of a receptor complex involved in signal transduction. This gene is localized to 11q12, in a cluster of other family members. At least four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq, Jul 2008]","","Membrane spanning 4-domains"
"215",2.87838111669256e-91,0.578088378505314,1,0.929,6.64215226487975e-87,"12","GPX1","glutathione peroxidase 1","","","The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Other studies indicate that H2O2 is also essential for growth-factor mediated signal transduction, mitochondrial function, and maintenance of thiol redox-balance; therefore, by limiting H2O2 accumulation, glutathione peroxidases are also involved in modulating these processes. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is the most abundant, is ubiquitously expressed and localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. It is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. This gene contains an in-frame GCG trinucleotide repeat in the coding region, and three alleles with 4, 5 or 6 repeats have been found in the human population. The allele with 4 GCG repeats has been significantly associated with breast cancer risk in premenopausal women. Alternatively spliced transcript variants have been found for this gene. Pseudogenes of this locus have been identified on chromosomes X and 21. [provided by RefSeq, Aug 2017]","Synthesis of 5-eicosatetraenoic acids; Synthesis of 12-eicosatetraenoic acid derivatives; Synthesis of 15-eicosatetraenoic acid derivatives; Detoxification of Reactive Oxygen Species; Purine catabolism","Selenoproteins"
"216",1.07102815048957e-89,0.541885892799084,0.73,0.31,2.47150456006972e-85,"12","IGSF6","immunoglobulin superfamily member 6","","","Not available","","V-set domain containing"
"217",3.68782913484866e-89,0.685416085557788,0.976,0.678,8.51003451157677e-85,"12","CD36","CD36 molecule","0, 10, 12, 2","adipocytes, erythrocyte, megakaryocyte, neutrophil granulocyte","The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2014]","Platelet degranulation ; Cross-presentation of particulate exogenous antigens (phagosomes); ER-Phagosome pathway; MyD88:Mal cascade initiated on plasma membrane; Toll Like Receptor TLR6:TLR2 Cascade; PPARA activates gene expression; Scavenging by Class B Receptors; Scavenging by Class B Receptors; Transcriptional regulation of white adipocyte differentiation; MyD88 deficiency (TLR2/4); IRAK4 deficiency (TLR2/4); Regulation of TLR by endogenous ligand; Interleukin-4 and Interleukin-13 signaling; Neutrophil degranulation","CD molecules|Scavenger receptors"
"218",4.90560172764399e-88,1.22919431012405,0.919,0.65,1.13201665467113e-83,"12","HMOX1","heme oxygenase 1","0, 10, 12, 2","","Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. [provided by RefSeq, Jul 2008]","Heme degradation; Interleukin-4 and Interleukin-13 signaling; Iron uptake and transport",""
"219",4.6248778716766e-87,0.569313128601664,0.98,0.763,1.06723681766809e-82,"12","VAMP8","vesicle associated membrane protein 8","12, 7","neutrophil granulocyte","This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010]","ER-Phagosome pathway; Clathrin derived vesicle budding; Lysosome Vesicle Biogenesis; Golgi Associated Vesicle Biogenesis; Neutrophil degranulation; Cargo recognition for clathrin-mediated endocytosis; Clathrin-mediated endocytosis","Vesicle associated membrane proteins"
"220",1.20087591844033e-85,0.713331514447136,0.943,0.59,2.77114126939291e-81,"12","CD68","CD68 molecule","0, 12, 2","connective tissue macrophage, macrophage, monocyte, neutrophil granulocyte","This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]","Neutrophil degranulation","CD molecules|Scavenger receptors"
"221",4.85372043990801e-83,0.4980506385331,0.794,0.378,1.12004452871317e-78,"12","ADAP2","ArfGAP with dual PH domains 2","","","The protein encoded by this gene binds beta-tubulin and increases the stability of microtubules. The encoded protein can also translocate to the cell membrane and bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). In addition, this protein is a GTPase-activating protein for ADP ribosylation factor 6 and may be able to block the entry of some RNA viruses. [provided by RefSeq, Oct 2016]","","ArfGAPs|Pleckstrin homology domain containing"
"222",1.80826036494369e-82,0.527715758170433,0.785,0.466,4.17274161814405e-78,"12","C20orf27","chromosome 20 open reading frame 27","","","Not available","",""
"223",4.71024577476835e-82,0.547662099267011,0.956,0.739,1.08693631498555e-77,"12","ARPC1B","actin related protein 2/3 complex subunit 1B","","","This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011]","Regulation of actin dynamics for phagocytic cup formation; Regulation of actin dynamics for phagocytic cup formation; EPHB-mediated forward signaling; RHO GTPases Activate WASPs and WAVEs; RHO GTPases Activate WASPs and WAVEs","Actin related protein 2/3 complex |WD repeat domain containing"
"224",2.53065520008985e-78,0.650014555806691,0.943,0.634,5.83973993972734e-74,"12","AGR2","anterior gradient 2, protein disulphide isomerase family member","10, 12, 2","","This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and a C-terminal ER-retention sequence. This protein plays a role in cell migration, cellular transformation and metastasis and is as a p53 inhibitor. As an ER-localized molecular chaperone, it plays a role in the folding, trafficking, and assembly of cysteine-rich transmembrane receptors and the cysteine-rich intestinal gylcoprotein mucin. This gene has been implicated in inflammatory bowel disease and cancer progression. [provided by RefSeq, Mar 2017]","","Protein disulfide isomerases"
"225",1.34640915499568e-76,0.548973382017185,0.917,0.616,3.10697376606802e-72,"12","RNASET2","ribonuclease T2","12, 2","neutrophil granulocyte","This ribonuclease gene is a novel member of the Rh/T2/S-glycoprotein class of extracellular ribonucleases. It is a single copy gene that maps to 6q27, a region associated with human malignancies and chromosomal rearrangement. [provided by RefSeq, Jul 2008]","Neutrophil degranulation",""
"226",6.00931913780712e-76,0.602867915016718,0.796,0.479,1.38671048424037e-71,"12","CHCHD10","coiled-coil-helix-coiled-coil-helix domain containing 10","0, 12, 7","","This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]","Mitochondrial protein import","Mitochondrial coiled-coil-helix-coiled-coil-helix domain containing proteins"
"227",2.36394788232851e-74,0.474219451280084,0.978,0.851,5.45504613326127e-70,"12","FKBP1A","FK506 binding protein 1A","","","The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed. [provided by RefSeq, Sep 2008]","Calcineurin activates NFAT; TGF-beta receptor signaling activates SMADs; TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition); TGFBR2 Kinase Domain Mutants in Cancer; TGFBR1 KD Mutants in Cancer; TGFBR1 LBD Mutants in Cancer","FKBP prolyl isomerases"
"228",3.57096420511513e-74,0.512452744745062,0.739,0.351,8.24035699972368e-70,"12","RNASE6","ribonuclease A family member k6","10, 12, 2","","The protein encoded by this gene is a member of the ribonuclease A superfamily and functions in the urinary tract. The protein has broad-spectrum antimicrobial activity against pathogenic bacteria. [provided by RefSeq, Nov 2014]","Antimicrobial peptides","Ribonuclease A family"
"229",1.3566659555717e-73,0.599818147039337,0.838,0.527,3.13064235907725e-69,"12","BIN1","bridging integrator 1","12, 2","","This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]","Clathrin-mediated endocytosis","N-BAR domain containing"
"230",1.33225856935499e-72,0.570969190256044,0.868,0.564,3.07431987464357e-68,"12","COTL1","coactosin like F-actin binding protein 1","","neutrophil granulocyte","This gene encodes one of the numerous actin-binding proteins which regulate the actin cytoskeleton. This protein binds F-actin, and also interacts with 5-lipoxygenase, which is the first committed enzyme in leukotriene biosynthesis. Although this gene has been reported to map to chromosome 17 in the Smith-Magenis syndrome region, the best alignments for this gene are to chromosome 16. The Smith-Magenis syndrome region is the site of two related pseudogenes. [provided by RefSeq, Jul 2008]","Neutrophil degranulation",""
"231",6.04325861799034e-72,0.484848791457882,1,0.875,1.39454235868745e-67,"12","CST3","cystatin C","12, 2, 8","neutrophil granulocyte, smooth muscle cell","The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014]","Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Neutrophil degranulation; Post-translational protein phosphorylation; Amyloid fiber formation","Cystatins, type 2"
"232",3.21798392742749e-70,0.49337448770899,0.825,0.512,7.42581971093168e-66,"12","RAB32","RAB32, member RAS oncogene family","","","The protein encoded by this gene anchors the type II regulatory subunit of protein kinase A to the mitochondrion and aids in mitochondrial fission. The encoded protein also appears to be involved in autophagy and melanosome secretion. Variations in this gene may be linked to leprosy. [provided by RefSeq, Dec 2015]","RAB geranylgeranylation; RAB GEFs exchange GTP for GDP on RABs","RAB, member RAS oncogene GTPases|A-kinase anchoring proteins"
"233",1.65423708965821e-68,0.543091830236789,0.893,0.511,3.81731750809529e-64,"12","LY96","lymphocyte antigen 96","0, 12, 2","","This gene encodes a protein which associates with toll-like receptor 4 on the cell surface and confers responsiveness to lipopolysaccyaride (LPS), thus providing a link between the receptor and LPS signaling. Studies of the mouse ortholog suggest that this gene may be involved in endotoxin neutralization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2010]","ER-Phagosome pathway; via Death Receptors in the presence of ligand; Toll Like Receptor 4 (TLR4) Cascade; MyD88:Mal cascade initiated on plasma membrane; MyD88-independent TLR4 cascade ; TRIF-mediated programmed cell death; MyD88 deficiency (TLR2/4); IRAK4 deficiency (TLR2/4); Regulation of TLR by endogenous ligand; TICAM1,TRAF6-dependent induction of TAK1 complex; Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon; IKK complex recruitment mediated by RIP1; TRAF6-mediated induction of TAK1 complex within TLR4 complex; IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation",""
"234",4.67389404207818e-68,0.522529425997851,0.963,0.595,1.07854778914996e-63,"12","MEF2C","myocyte enhancer factor 2C","","","This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]","ERK/MAPK targets; Transcriptional activation of mitochondrial biogenesis; CDO in myogenesis; Circadian Clock","Myocyte enhancer factor 2 proteins|MADS box family"
"235",5.17888643749863e-68,0.577941361645541,0.588,0.254,1.19507983431718e-63,"12","TIMD4","T cell immunoglobulin and mucin domain containing 4","12, 2","","Not available","","V-set domain containing"
"236",9.98489006436869e-67,0.472040329680199,0.728,0.369,2.30411323125372e-62,"12","LY86","lymphocyte antigen 86","","","Not available","Toll Like Receptor 4 (TLR4) Cascade",""
"237",2.6834617778028e-66,0.507756992735624,0.8,0.409,6.19235639845775e-62,"12","GPR34","G protein-coupled receptor 34","12, 2","","G protein-coupled receptors (GPCRs), such as GPR34, are integral membrane proteins containing 7 putative transmembrane domains (TMs). These proteins mediate signals to the interior of the cell via activation of heterotrimeric G proteins that in turn activate various effector proteins, ultimately resulting in a physiologic response.[supplied by OMIM, Apr 2006]","","G protein-coupled receptors, Class A orphans"
"238",8.27266146727748e-66,0.502466586689385,0.807,0.456,1.90899936018895e-61,"12","ABCG2","ATP binding cassette subfamily G member 2 (Junior blood group)","12, 2","","The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]","Abacavir transmembrane transport; Iron uptake and transport","Blood group antigens|CD molecules|ATP binding cassette subfamily G"
"239",1.70465598580332e-65,0.49193483203608,0.798,0.526,3.93366415283975e-61,"12","NAA20","N(alpha)-acetyltransferase 20, NatB catalytic subunit","","","NAT5 is a component of N-acetyltransferase complex B (NatB). Human NatB performs cotranslational N(alpha)-terminal acetylation of methionine residues when they are followed by asparagine (Starheim et al., 2008 [PubMed 18570629]).[supplied by OMIM, Apr 2009]","","N(alpha)-acetyltransferase subunits|GCN5 related N-acetyltransferases"
"240",5.95769737894875e-65,0.477831601974989,0.98,0.74,1.37479824716621e-60,"12","ARHGDIB","Rho GDP dissociation inhibitor beta","","","Members of the Rho (or ARH) protein family (see MIM 165390) and other Ras-related small GTP-binding proteins (see MIM 179520) are involved in diverse cellular events, including cell signaling, proliferation, cytoskeletal organization, and secretion. The GTP-binding proteins are active only in the GTP-bound state. At least 3 classes of proteins tightly regulate cycling between the GTP-bound and GDP-bound states: GTPase-activating proteins (GAPs), guanine nucleotide-releasing factors (GRFs), and GDP-dissociation inhibitors (GDIs). The GDIs, including ARHGDIB, decrease the rate of GDP dissociation from Ras-like GTPases (summary by Scherle et al., 1993 [PubMed 8356058]).[supplied by OMIM, Dec 2010]","Rho GTPase cycle","Endogenous ligands|Minor histocompatibility antigens"
"241",8.53516370751071e-65,0.513346883830907,0.965,0.666,1.96957437714517e-60,"12","MAF","MAF bZIP transcription factor","0, 12, 7","osteoblast","The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]","RUNX2 regulates osteoblast differentiation","Basic leucine zipper proteins"
"242",1.12143927409467e-64,0.533133471869235,0.732,0.405,2.58783326890086e-60,"12","IFNGR1","interferon gamma receptor 1","12, 2","","This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]","Interferon gamma signaling; Regulation of IFNG signaling; Regulation of IFNG signaling","CD molecules|Interferon receptors"
"243",1.1967365273534e-64,0.4779352334111,0.82,0.54,2.76158921052072e-60,"12","GLRX","glutaredoxin","12, 20","","This gene encodes a member of the glutaredoxin family. The encoded protein is a cytoplasmic enzyme catalyzing the reversible reduction of glutathione-protein mixed disulfides. This enzyme highly contributes to the antioxidant defense system. It is crucial for several signalling pathways by controlling the S-glutathionylation status of signalling mediators. It is involved in beta-amyloid toxicity and Alzheimer's disease. Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2011]","Interconversion of nucleotide di- and triphosphates","Glutaredoxin domain containing"
"244",1.21577213201169e-63,0.55015423382245,0.987,0.723,2.80551577183017e-59,"12","DAB2","DAB2, clathrin adaptor protein","0, 12, 7","","This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]","Gap junction degradation; Formation of annular gap junctions; Cargo recognition for clathrin-mediated endocytosis; Clathrin-mediated endocytosis",""
"245",4.51043935977303e-59,0.475675112049649,0.991,0.832,1.04082898666122e-54,"12","FCGRT","Fc fragment of IgG receptor and transporter","12, 2","","This gene encodes a receptor that binds the Fc region of monomeric immunoglobulin G. The encoded protein transfers immunoglobulin G antibodies from mother to fetus across the placenta. This protein also binds immunoglobulin G to protect the antibody from degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]","","C1-set domain containing"
"246",1.58492245658573e-58,0.470118475347506,0.713,0.347,3.65736706081723e-54,"12","MS4A4A","membrane spanning 4-domains A4A","10, 12, 2","lymphoid","This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features, similar intron/exon splice boundaries, and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]","","Membrane spanning 4-domains"
"247",1.63253728864301e-58,0.577054917007828,0.98,0.861,3.76724304727262e-54,"12","PSAP","prosaposin","12, 15","megakaryocyte, neutrophil granulocyte, progenitor","This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]","Platelet degranulation ; Glycosphingolipid metabolism; Peptide ligand-binding receptors; G alpha (i) signalling events; Neutrophil degranulation","Endogenous ligands"
"248",2.48580141073296e-55,0.512928239878312,0.967,0.836,5.73623533540737e-51,"12","S100A4","S100 calcium binding protein A4","0, 1, 12, 7","","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]","","S100 calcium binding proteins|EF-hand domain containing"
"249",4.45710726475317e-47,0.497094209369553,0.851,0.645,1.02852207241444e-42,"12","ASAH1","N-acylsphingosine amidohydrolase 1","","neutrophil granulocyte","This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]","Glycosphingolipid metabolism; Neutrophil degranulation",""
"250",3.55411286816207e-37,0.556502215003052,0.776,0.531,8.20147085457079e-33,"12","LIPA","lipase A, lysosomal acid type","0, 12","","This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]","LDL clearance","Lipases"
"251",0,1.71921271090356,0.555,0.069,0,"13","RGS18","regulator of G protein signaling 18","","","This gene encodes a member of the regulator of G-protein signaling family. This protein is contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]","G alpha (q) signalling events; G alpha (i) signalling events","Regulators of G-protein signaling"
"252",0,1.66645926399349,0.391,0.016,0,"13","CLEC1B","C-type lectin domain family 1 member B","","myeloid","Natural killer (NK) cells express multiple calcium-dependent (C-type) lectin-like receptors, such as CD94 (KLRD1; MIM 602894) and NKG2D (KLRC4; MIM 602893), that interact with major histocompatibility complex class I molecules and either inhibit or activate cytotoxicity and cytokine secretion. CLEC2 is a C-type lectin-like receptor expressed in myeloid cells and NK cells (Colonna et al., 2000 [PubMed 10671229]).[supplied by OMIM, Jan 2011]","GPVI-mediated activation cascade","C-type lectin domain containing"
"253",0,1.55764800212693,0.436,0.021,0,"13","CMTM5","CKLF like MARVEL transmembrane domain containing 5","","","This gene encodes a member of the chemokine-like factor superfamily. This family of genes encodes multi-pass membrane proteins that are similar to both the chemokine and the transmembrane 4 superfamilies of signaling molecules. The encoded protein may exhibit tumor suppressor activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]","","CKLF like MARVEL transmembrane domain containing"
"254",0,1.42512041715463,0.716,0.075,0,"13","SDPR","SDPR","11, 13","","SDPR","SDPR","SDPR"
"255",0,1.33493774642386,0.566,0.02,0,"13","ITGA2B","integrin subunit alpha 2b","","megakaryocyte","This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]","Platelet degranulation ; Integrin cell surface interactions; ECM proteoglycans; Integrin alphaIIb beta3 signaling; GRB2:SOS provides linkage to MAPK signaling for Integrins ; p130Cas linkage to MAPK signaling for integrins; Signal transduction by L1; MAP2K and MAPK activation; Signaling by moderate kinase activity BRAF mutants; Signaling by high-kinase activity BRAF mutants; Signaling by RAS mutants; Signaling by BRAF and RAF fusions; Paradoxical activation of RAF signaling by kinase inactive BRAF; RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function","CD molecules|Protein phosphatase 1 regulatory subunits|Integrin alpha subunits"
"256",0,1.24278152673712,0.548,0.037,0,"13","LAT","linker for activation of T cells","","","The protein encoded by this gene is phosphorylated by ZAP-70/Syk protein tyrosine kinases following activation of the T-cell antigen receptor (TCR) signal transduction pathway. This transmembrane protein localizes to lipid rafts and acts as a docking site for SH2 domain-containing proteins. Upon phosphorylation, this protein recruits multiple adaptor proteins and downstream signaling molecules into multimolecular signaling complexes located near the site of TCR engagement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","GPVI-mediated activation cascade; Generation of second messenger molecules; DAP12 signaling; Fc epsilon receptor (FCERI) signaling; FCERI mediated MAPK activation; FCERI mediated Ca+2 mobilization; FCERI mediated Ca+2 mobilization; RAF/MAP kinase cascade",""
"257",0,1.1945129899508,0.666,0.09,0,"13","RP11-620J15.3","RP11-620J15.3","","","RP11-620J15.3","RP11-620J15.3","RP11-620J15.3"
"258",0,1.05025512863712,0.439,0.016,0,"13","RAB27B","RAB27B, member RAS oncogene family","","megakaryocyte","Members of the Rab protein family, including RAB27B, are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking (Chen et al., 1997 [PubMed 9066979]).[supplied by OMIM, Nov 2010]","Platelet degranulation ; RAB geranylgeranylation; RAB GEFs exchange GTP for GDP on RABs","RAB, member RAS oncogene GTPases"
"259",0,1.03231716212031,0.759,0.101,0,"13","GATA1","GATA binding protein 1","","erythrocyte, hematopoietic stem cell, megakaryocyte","This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]","RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function; RUNX1 regulates transcription of genes involved in differentiation of HSCs; Factors involved in megakaryocyte development and platelet production","GATA zinc finger domain containing"
"260",0,1.01292842551572,0.62,0.027,0,"13","GATA2","GATA binding protein 2","","hematopoietic stem cell, megakaryocyte","This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]","RUNX1 regulates transcription of genes involved in differentiation of HSCs; Factors involved in megakaryocyte development and platelet production","GATA zinc finger domain containing"
"261",0,0.984647304437665,0.405,0.005,0,"13","RP11-354E11.2","RP11-354E11.2","","","RP11-354E11.2","RP11-354E11.2","RP11-354E11.2"
"262",0,0.963808876540062,0.568,0.037,0,"13","PRSS57","serine protease 57","","neutrophil granulocyte","This gene encodes an arginine-specific serine protease and member of the peptidase S1 family of proteins. The encoded protein may undergo proteolytic activation before storage in azurophil granules, in neutrophil cells of the immune system. Following neutrophil activation, the protease is released into the pericellular environment, where it may play a role in defense against microbial pathogens. [provided by RefSeq, Jul 2016]","","Serine proteases|Granule associated serine proteases of immune defence"
"263",0,0.951775920314454,0.286,0.009,0,"13","CPA3","carboxypeptidase A3","","mast cell","This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. The encoded preproprotein is proteolytically processed to generate a mature protease that is released by mast cells and may be involved in the degradation of endogenous proteins and the inactivation of venom-associated peptides. Expression of this gene may be elevated in human asthma patients. [provided by RefSeq, Nov 2015]","Metabolism of Angiotensinogen to Angiotensins","M14 carboxypeptidases"
"264",1.83044704110865e-262,1.21355438264062,0.284,0.019,4.22393959206232e-258,"13","TMEM40","transmembrane protein 40","","","Not available","",""
"265",6.33773589946578e-255,0.98085287354619,0.28,0.019,1.46249593616072e-250,"13","TREML1","triggering receptor expressed on myeloid cells like 1","","lymphoid, megakaryocyte, myeloid","This gene encodes a member of the triggering receptor expressed on myeloid cells-like (TREM) family. The encoded protein is a type 1 single Ig domain orphan receptor localized to the alpha-granule membranes of platelets. The encoded protein is involved in platelet aggregation, inflammation, and cellular activation and has been linked to Gray platelet syndrome. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell","V-set domain containing"
"266",2.03593799444042e-245,2.28981084137676,0.559,0.09,4.69813051597071e-241,"13","HBD","hemoglobin subunit delta","13, 21","megakaryocyte","The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order:      5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia. [provided by RefSeq, Jul 2008]","Factors involved in megakaryocyte development and platelet production","Hemoglobin subunits"
"267",9.36726167660854e-235,2.06364108316422,0.557,0.098,2.16158930449419e-230,"13","GP9","glycoprotein IX platelet","","megakaryocyte","This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008]","Intrinsic Pathway of Fibrin Clot Formation; GP1b-IX-V activation signalling; Platelet Adhesion to exposed collagen; Platelet Aggregation (Plug Formation)","CD molecules"
"268",1.29773648285865e-202,1.36077342499404,0.795,0.24,2.99465670784462e-198,"13","PDLIM1","PDZ and LIM domain 1","","","This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012]","","LIM domain containing|PDZ domain containing"
"269",5.17499019084116e-195,1.08168521060468,0.718,0.191,1.19418073643851e-190,"13","NT5C3A","5'-nucleotidase, cytosolic IIIA","","","This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. [provided by RefSeq, Mar 2012]","Pyrimidine catabolism","5'-nucleotidases"
"270",2.29767672447939e-188,1.03103836391558,0.575,0.124,5.30211880940863e-184,"13","RASGRP2","RAS guanyl releasing protein 2","","","The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]","Effects of PIP2 hydrolysis; FCERI mediated NF-kB activation; Integrin alphaIIb beta3 signaling; Rap1 signalling","EF-hand domain containing"
"271",2.87585773838945e-181,1.18036229195161,0.555,0.121,6.63632931710749e-177,"13","CDKN2D","cyclin dependent kinase inhibitor 2D","","","The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]","Oxidative Stress Induced Senescence; Senescence-Associated Secretory Phenotype (SASP); Oncogene Induced Senescence; Cyclin D associated events in G1","Ankyrin repeat domain containing"
"272",7.97629983149877e-178,1.11687604530591,0.825,0.309,1.84061094911666e-173,"13","SERPINB1","serpin family B member 1","","neutrophil granulocyte","The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]","Neutrophil degranulation","Serpin peptidase inhibitors"
"273",1.13904625480419e-172,1.36135790779594,0.957,0.571,2.62846313758615e-168,"13","TAGLN2","transgelin 2","","megakaryocyte","The protein encoded by this gene is similar to the protein transgelin, which is one of the earliest markers of differentiated smooth muscle. The specific function of this protein has not yet been determined, although it is thought to be a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]","Platelet degranulation ",""
"274",8.09436428751851e-154,1.10279781006212,0.477,0.095,1.86785550298777e-149,"13","CD69","CD69 molecule","13, 19","megakaryocyte, natural killer cell","This gene encodes a member of the calcium dependent lectin superfamily of type II transmembrane receptors. Expression of the encoded protein is induced upon activation of T lymphocytes, and may play a role in proliferation. Furthermore, the protein may act to transmit signals in natural killer cells and platelets. [provided by RefSeq, Aug 2011]","","CD molecules|C-type lectin domain containing"
"275",1.74070946114182e-147,1.02176306565451,0.916,0.523,4.01686115253086e-143,"13","FXYD5","FXYD domain containing ion transport regulator 5","","","This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD5, is a glycoprotein that functions in the up-regulation of chemokine production, and it is involved in the reduction of cell adhesion via its ability to down-regulate E-cadherin. It also promotes metastasis, and has been linked to a variety of cancers. Alternative splicing results in multiple transcript variants. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Sep 2009]","",""
"276",8.06999570062381e-144,1.15514244291053,0.764,0.305,1.86223220787595e-139,"13","MAX","MYC associated factor X","","","The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Mutations of this gene have been reported to be associated with hereditary pheochromocytoma. A pseudogene of this gene is located on the long arm of chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]","Transcription of E2F targets under negative control by DREAM complex; Cyclin E associated events during G1/S transition ; Cyclin A:Cdk2-associated events at S phase entry; Transcriptional Regulation by E2F6","Basic helix-loop-helix proteins"
"277",1.43726739233156e-130,0.97264670929694,1,0.964,3.3166382345443e-126,"13","H3F3A","H3 histone family member 3A","","hematopoietic stem cell, megakaryocyte","Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded is a replication-independent member of the histone H3 family. [provided by RefSeq, Jul 2008]","Pre-NOTCH Transcription and Translation; Formation of the beta-catenin:TCF transactivating complex; PRC2 methylates histones and DNA; Condensation of Prophase Chromosomes; Oxidative Stress Induced Senescence; Senescence-Associated Secretory Phenotype (SASP); SIRT1 negatively regulates rRNA expression; ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression; NoRC negatively regulates rRNA expression; NoRC negatively regulates rRNA expression; B-WICH complex positively regulates rRNA expression; DNA methylation; Transcriptional regulation by small RNAs; Activation of anterior HOX genes in hindbrain development during early embryogenesis; Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3; RNA Polymerase I Promoter Opening; RNA Polymerase I Chain Elongation; RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function; RUNX1 regulates transcription of genes involved in differentiation of HSCs; Estrogen-dependent gene expression; Meiotic recombination; Amyloid fiber formation; Factors involved in megakaryocyte development and platelet production","Histones"
"278",1.24321885002395e-125,1.46926689943465,0.609,0.189,2.86885181831527e-121,"13","HIST1H2AC","histone cluster 1 H2A family member c","","hematopoietic stem cell, megakaryocyte","Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]","Meiotic synapsis; Packaging Of Telomere Ends; Pre-NOTCH Transcription and Translation; Formation of the beta-catenin:TCF transactivating complex; Formation of the beta-catenin:TCF transactivating complex; PRC2 methylates histones and DNA; Condensation of Prophase Chromosomes; Oxidative Stress Induced Senescence; Senescence-Associated Secretory Phenotype (SASP); DNA Damage/Telomere Stress Induced Senescence; HDACs deacetylate histones; HATs acetylate histones; HATs acetylate histones; RMTs methylate histone arginines; SIRT1 negatively regulates rRNA expression; ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression; NoRC negatively regulates rRNA expression; NoRC negatively regulates rRNA expression; B-WICH complex positively regulates rRNA expression; DNA methylation; Transcriptional regulation by small RNAs; Activation of anterior HOX genes in hindbrain development during early embryogenesis; Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3; UCH proteinases; Ub-specific processing proteases; Metalloprotease DUBs; Deposition of new CENPA-containing nucleosomes at the centromere; RNA Polymerase I Promoter Opening; RNA Polymerase I Chain Elongation; RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function; RUNX1 regulates transcription of genes involved in differentiation of HSCs; Estrogen-dependent gene expression; Meiotic recombination; Amyloid fiber formation","Histones"
"279",1.55304947885832e-121,1.22997256979032,0.511,0.133,3.58381697741346e-117,"13","THBS1","thrombospondin 1","","megakaryocyte","The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. [provided by RefSeq, Jul 2008]","Platelet degranulation ; Signaling by PDGF; Integrin cell surface interactions; Syndecan interactions; Defective B3GALTL causes Peters-plus syndrome (PpS); O-glycosylation of TSR domain-containing proteins; RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function",""
"280",2.1782489556048e-117,1.24520134340327,0.741,0.317,5.02652728995363e-113,"13","FERMT3","fermitin family member 3","","erythrocyte, megakaryocyte","Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]","Platelet degranulation ","Fermitins|Pleckstrin homology domain containing|FERM domain containing"
"281",5.6850675304569e-116,0.962960922697094,0.452,0.112,1.31188618332824e-111,"13","RUFY1","RUN and FYVE domain containing 1","","","This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]","Synthesis of PIPs at the plasma membrane","Zinc fingers FYVE-type"
"282",8.24297713806772e-115,1.42038788035709,0.343,0.067,1.90214940438051e-110,"13","TUBB1","tubulin beta 1 class VI","","megakaryocyte","This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]","Translocation of SLC2A4 (GLUT4) to the plasma membrane; Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane; Gap junction assembly; MHC class II antigen presentation; Separation of Sister Chromatids; Resolution of Sister Chromatid Cohesion; HSP90 chaperone cycle for steroid hormone receptors (SHR); Recruitment of NuMA to mitotic centrosomes; Prefoldin mediated transfer of substrate  to CCT/TriC; Formation of tubulin folding intermediates by CCT/TriC; Post-chaperonin tubulin folding pathway; Recycling pathway of L1; Recycling pathway of L1; Hedgehog 'off' state; Cilium Assembly; Intraflagellar transport; RHO GTPases activate IQGAPs; RHO GTPases Activate Formins; COPI-mediated anterograde transport; COPI-dependent Golgi-to-ER retrograde traffic; COPI-independent Golgi-to-ER retrograde traffic; Mitotic Prometaphase; The role of GTSE1 in G2/M progression after G2 checkpoint; Carboxyterminal post-translational modifications of tubulin; Carboxyterminal post-translational modifications of tubulin; Kinesins","Tubulins"
"283",9.68427818623967e-114,0.973615841078759,0.675,0.265,2.23474403425667e-109,"13","CNRIP1","cannabinoid receptor interacting protein 1","","","This gene encodes a protein that interacts with the C-terminal tail of cannabinoid receptor 1. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]","",""
"284",2.30150931556032e-105,1.6700419451026,0.855,0.512,5.31096289658699e-101,"13","RAP1B","RAP1B, member of RAS oncogene family","","megakaryocyte, neutrophil granulocyte","This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011]","Integrin alphaIIb beta3 signaling; GRB2:SOS provides linkage to MAPK signaling for Integrins ; p130Cas linkage to MAPK signaling for integrins; Rap1 signalling; MAP2K and MAPK activation; Neutrophil degranulation; Signaling by moderate kinase activity BRAF mutants; Signaling by high-kinase activity BRAF mutants; Signaling by RAS mutants; Signaling by BRAF and RAF fusions; Paradoxical activation of RAF signaling by kinase inactive BRAF; MET activates RAP1 and RAC1; Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation","RAS type GTPase family"
"285",6.68872958524096e-103,1.10745988010169,0.657,0.27,1.5434912390902e-98,"13","CCND3","cyclin D3","","adipocytes","The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activtiy is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. The CDK4 activity associated with this cyclin was reported to be necessary for cell cycle progression through G2 phase into mitosis after UV radiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]","Transcriptional regulation of white adipocyte differentiation; MAPK6/MAPK4 signaling; Cyclin D associated events in G1; Regulation of RUNX1 Expression and Activity","Cyclins"
"286",3.06465046795817e-100,1.68248532818882,0.445,0.129,7.07198741986028e-96,"13","NRGN","neurogranin","","","Neurogranin (NRGN) is the human homolog of the neuron-specific rat RC3/neurogranin gene. This gene encodes a postsynaptic protein kinase substrate that binds calmodulin in the absence of calcium. The NRGN gene contains four exons and three introns. The exons 1 and 2 encode the protein and exons 3 and 4 contain untranslated sequences. It is suggested that the NRGN is a direct target for thyroid hormone in human brain, and that control of expression of this gene could underlay many of the consequences of hypothyroidism on mental states during development as well as in adult subjects. [provided by RefSeq, Jul 2008]","",""
"287",3.07016580914398e-100,4.02847726003715,0.595,0.225,7.08471462118065e-96,"13","PF4","platelet factor 4","","megakaryocyte","This gene encodes a member of the CXC chemokine family. This chemokine is released from the alpha granules of activated platelets in the form of a homotetramer which has high affinity for heparin and is involved in platelet aggregation. This protein is chemotactic for numerous other cell type and also functions as an inhibitor of hematopoiesis, angiogenesis and T-cell function. The protein also exhibits antimicrobial activity against Plasmodium falciparum. [provided by RefSeq, Oct 2014]","Platelet degranulation ; Common Pathway of Fibrin Clot Formation; Cell surface interactions at the vascular wall; Chemokine receptors bind chemokines; G alpha (i) signalling events; RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function",""
"288",2.39367913590504e-94,1.49480726253798,0.702,0.277,5.52365397401447e-90,"13","CXCL3","C-X-C motif chemokine ligand 3","13, 15","neutrophil granulocyte","This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. [provided by RefSeq, Sep 2014]","Chemokine receptors bind chemokines; G alpha (i) signalling events","Chemokine ligands|Endogenous ligands"
"289",3.72505750846633e-91,1.11674394848994,0.916,0.726,8.59594270653691e-87,"13","NAA38","N(alpha)-acetyltransferase 38, NatC auxiliary subunit","","","Not available","Retrograde transport at the Trans-Golgi-Network","N(alpha)-acetyltransferase subunits|LSm proteins"
"290",4.9113473743074e-85,1.57724675888054,0.368,0.098,1.13334252009518e-80,"13","TUBA4A","tubulin alpha 4a","13, 14","megakaryocyte","Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]","Platelet degranulation ; Translocation of SLC2A4 (GLUT4) to the plasma membrane; Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane; Gap junction assembly; MHC class II antigen presentation; Separation of Sister Chromatids; Resolution of Sister Chromatid Cohesion; Regulation of PLK1 Activity at G2/M Transition; HSP90 chaperone cycle for steroid hormone receptors (SHR); Loss of Nlp from mitotic centrosomes; Recruitment of mitotic centrosome proteins and complexes; Loss of proteins required for interphase microtubule organization from the centrosome; Recruitment of NuMA to mitotic centrosomes; Prefoldin mediated transfer of substrate  to CCT/TriC; Formation of tubulin folding intermediates by CCT/TriC; Post-chaperonin tubulin folding pathway; Recycling pathway of L1; Recycling pathway of L1; Hedgehog 'off' state; Cilium Assembly; Anchoring of the basal body to the plasma membrane; Intraflagellar transport; RHO GTPases activate IQGAPs; RHO GTPases Activate Formins; COPI-mediated anterograde transport; COPI-dependent Golgi-to-ER retrograde traffic; COPI-independent Golgi-to-ER retrograde traffic; Mitotic Prometaphase; The role of GTSE1 in G2/M progression after G2 checkpoint; AURKA Activation by TPX2; Carboxyterminal post-translational modifications of tubulin; Carboxyterminal post-translational modifications of tubulin; Kinesins","Tubulins"
"291",5.80646309297569e-85,3.94706234514023,0.559,0.216,1.33989942333507e-80,"13","PPBP","pro-platelet basic protein","","megakaryocyte, neutrophil granulocyte","The protein encoded by this gene is a platelet-derived growth factor that belongs to the CXC chemokine family. This growth factor is a potent chemoattractant and activator of neutrophils. It has been shown to stimulate various cellular processes including DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and synthesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by synovial cells. The protein also is an antimicrobial protein with bactericidal and antifungal activity. [provided by RefSeq, Nov 2014]","Platelet degranulation ; Chemokine receptors bind chemokines; G alpha (i) signalling events; Neutrophil degranulation","Endogenous ligands"
"292",9.24855704828211e-78,1.67095330723221,0.293,0.067,2.13419702446158e-73,"13","ACRBP","acrosin binding protein","","gastric gland zymogenic cell, progenitor","The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea pig, and pig. This protein is located in the sperm acrosome and is thought to function as a binding protein to proacrosin for packaging and condensation of the acrosin zymogen in the acrosomal matrix. This protein is a member of the cancer/testis family of antigens and it is found to be immunogenic. In normal tissues, this mRNA is expressed only in testis, whereas it is detected in a range of different tumor types such as bladder, breast, lung, liver, and colon. [provided by RefSeq, Jul 2008]","","Armadillo-like helical domain containing"
"293",2.63874625192112e-70,1.24717414274068,0.75,0.428,6.08917085093318e-66,"13","LIMS1","LIM zinc finger domain containing 1","","","The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]","Cell-extracellular matrix interactions; Regulation of cytoskeletal remodeling and cell spreading by IPP complex components","LIM zinc finger domain containing|LIM domain containing"
"294",4.27580965215767e-68,1.32986385093022,0.75,0.474,9.86685835331905e-64,"13","PLEK","pleckstrin","","megakaryocyte","Not available","Platelet degranulation ","Pleckstrin homology domain containing"
"295",9.86151433674009e-43,1.33188342153465,0.305,0.109,2.27564304834614e-38,"13","C19orf33","chromosome 19 open reading frame 33","13, 18","fibroblasts","The protein encoded by this gene has been shown to be upregulated in SV40-immortalized fibroblasts as well as in endometrial carcinoma cells. The encoded protein is found primarily in the nucleus. This protein may play a role in placental development and diseases such as pre-eclampsia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]","",""
"296",1.9744043896593e-41,0.988335658498648,0.755,0.466,4.55613556957781e-37,"13","TSC22D1","TSC22 domain family member 1","","","This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including C-type natriuretic peptide. The encoded protein may play a critical role in tumor suppression through the induction of cancer cell apoptosis, and a single nucleotide polymorphism in the promoter of this gene has been associated with diabetic nephropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]","POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation",""
"297",1.70813776960527e-31,1.39125886000426,0.323,0.141,3.94169871714111e-27,"13","CCL5","C-C motif chemokine ligand 5","13, 19","basophil granulocyte, eosinophil granulocyte, monocyte","This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, functions as a chemoattractant for blood monocytes, memory T helper cells and eosinophils. It causes the release of histamine from basophils and activates eosinophils. This cytokine is one of the major HIV-suppressive factors produced by CD8+ cells. It functions as one of the natural ligands for the chemokine receptor chemokine (C-C motif) receptor 5 (CCR5), and it suppresses in vitro replication of the R5 strains of HIV-1, which use CCR5 as a coreceptor. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]","Chemokine receptors bind chemokines; G alpha (i) signalling events; Interleukin-10 signaling","Chemokine ligands|Endogenous ligands"
"298",2.43890333307383e-31,1.43792020619977,0.545,0.328,5.62801333140117e-27,"13","GNG11","G protein subunit gamma 11","11, 13","","This gene is a member of the guanine nucleotide-binding protein (G protein) gamma family and encodes a lipid-anchored, cell membrane protein. As a member of the heterotrimeric G protein complex, this protein plays a role in this transmembrane signaling system. This protein is also subject to carboxyl-terminal processing. Decreased expression of this gene is associated with splenic marginal zone lymphomas. [provided by RefSeq, Jul 2008]","Glucagon signaling in metabolic regulation; G-protein activation; Glucagon-like Peptide-1 (GLP1) regulates insulin secretion; Glucagon-like Peptide-1 (GLP1) regulates insulin secretion; ADP signalling through P2Y purinoceptor 12; G beta:gamma signalling through PI3Kgamma; Prostacyclin signalling through prostacyclin receptor; Prostacyclin signalling through prostacyclin receptor; Adrenaline,noradrenaline inhibits insulin secretion; Adrenaline,noradrenaline inhibits insulin secretion; Ca2+ pathway; Ca2+ pathway; G alpha (q) signalling events; G alpha (12/13) signalling events; G beta:gamma signalling through PLC beta; G alpha (s) signalling events; ADP signalling through P2Y purinoceptor 1; ADP signalling through P2Y purinoceptor 1; G alpha (i) signalling events; G alpha (z) signalling events; Glucagon-type ligand receptors; Thromboxane signalling through TP receptor; Vasopressin regulates renal water homeostasis via Aquaporins; Thrombin signalling through proteinase activated receptors (PARs); Thrombin signalling through proteinase activated receptors (PARs); Presynaptic function of Kainate receptors; Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding","G protein subunits gamma"
"299",7.28384643805887e-27,1.15330694852819,0.466,0.269,1.68082040404646e-22,"13","CD9","CD9 molecule","","megakaryocyte, oocyte","This gene encodes a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Tetraspanins are cell surface glycoproteins with four transmembrane domains that form multimeric complexes with other cell surface proteins. The encoded protein functions in many cellular processes including differentiation, adhesion, and signal transduction, and expression of this gene plays a critical role in the suppression of cancer cell motility and metastasis. [provided by RefSeq, Jan 2011]","Platelet degranulation ; Sperm:Oocyte Membrane Binding; Uptake and function of diphtheria toxin","CD molecules|Tetraspanins"
"300",1.17321375749083e-24,1.02865248228021,0.545,0.353,2.70730806678584e-20,"13","LMO4","LIM domain only 4","","","This gene encodes a cysteine-rich protein that contains two LIM domains but lacks a DNA-binding homeodomain. The encoded protein may play a role as a transcriptional regulator or as an oncogene. [provided by RefSeq, Aug 2008]","","LIM domain containing"
"301",0,0.882084971501657,0.453,0.022,0,"14","YPEL4","yippee like 4","","","Not available","","Yippee like family"
"302",1.17377784221582e-306,1.28285716873581,0.898,0.175,2.70860974869723e-302,"14","DONSON","downstream neighbor of SON","14, 17, 21, 5","","This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008]","",""
"303",6.96820420906956e-254,1.36441147694792,0.61,0.093,1.60798280328489e-249,"14","TUBA4A","tubulin alpha 4a","13, 14","megakaryocyte","Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]","Platelet degranulation ; Translocation of SLC2A4 (GLUT4) to the plasma membrane; Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane; Gap junction assembly; MHC class II antigen presentation; Separation of Sister Chromatids; Resolution of Sister Chromatid Cohesion; Regulation of PLK1 Activity at G2/M Transition; HSP90 chaperone cycle for steroid hormone receptors (SHR); Loss of Nlp from mitotic centrosomes; Recruitment of mitotic centrosome proteins and complexes; Loss of proteins required for interphase microtubule organization from the centrosome; Recruitment of NuMA to mitotic centrosomes; Prefoldin mediated transfer of substrate  to CCT/TriC; Formation of tubulin folding intermediates by CCT/TriC; Post-chaperonin tubulin folding pathway; Recycling pathway of L1; Recycling pathway of L1; Hedgehog 'off' state; Cilium Assembly; Anchoring of the basal body to the plasma membrane; Intraflagellar transport; RHO GTPases activate IQGAPs; RHO GTPases Activate Formins; COPI-mediated anterograde transport; COPI-dependent Golgi-to-ER retrograde traffic; COPI-independent Golgi-to-ER retrograde traffic; Mitotic Prometaphase; The role of GTSE1 in G2/M progression after G2 checkpoint; AURKA Activation by TPX2; Carboxyterminal post-translational modifications of tubulin; Carboxyterminal post-translational modifications of tubulin; Kinesins","Tubulins"
"304",6.82449010990414e-176,2.22343902432931,0.772,0.249,1.57481933776148e-171,"14","GADD45A","growth arrest and DNA damage inducible alpha","","","This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010]","TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest",""
"305",6.30850978607833e-174,1.28217699840519,0.725,0.203,1.45575171823543e-169,"14","HBQ1","hemoglobin subunit theta 1","14, 17, 21, 22, 3, 5","erythrocyte","Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue. [provided by RefSeq, Jul 2008]","","Hemoglobin subunits"
"306",1.73029606023737e-171,1.00129360656507,0.56,0.114,3.99283118860374e-167,"14","KLF1","Kruppel like factor 1","14, 17, 22, 3","erythrocyte","This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]","","Zinc fingers C2H2-type|Kruppel like factors"
"307",7.39511718897196e-163,1.23684808912586,0.56,0.124,1.70649724252717e-158,"14","SNHG10","small nucleolar RNA host gene 10","","","This gene is small nucleolar RNA host gene 10 and represents a non-protein coding RNA. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]","",""
"308",1.49754350484884e-148,1.56170354781119,1,0.837,3.45573139178919e-144,"14","HBA1","hemoglobin subunit alpha 1","14, 17, 21, 22, 3, 5","erythrocyte","The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Scavenging of heme from plasma","Hemoglobin subunits"
"309",2.66820408428224e-147,1.40890776595099,1,0.862,6.1571477448897e-143,"14","HBA2","hemoglobin subunit alpha 2","14, 17, 21, 22, 3, 5","erythrocyte","The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Scavenging of heme from plasma","Hemoglobin subunits"
"310",4.24324419246187e-147,2.05727594018667,0.997,0.889,9.79171029852502e-143,"14","HBE1","hemoglobin subunit epsilon 1","14, 22, 3","megakaryocyte","The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order:  5'-epsilon - G-gamma - A-gamma - delta - beta-3' [provided by RefSeq, Jul 2008]","Factors involved in megakaryocyte development and platelet production","Hemoglobin subunits"
"311",1.37142339287146e-137,1.35031542628003,0.72,0.244,3.16469662139018e-133,"14","BPGM","bisphosphoglycerate mutase","14, 17, 21, 5","erythrocyte","2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]","Glycolysis","Phosphoglycerate mutases|Bisphosphoglycerate phosphatases"
"312",1.76653732228502e-137,1.28949998606535,0.459,0.092,4.0764615249049e-133,"14","CMB9-22P13.1","CMB9-22P13.1","","","CMB9-22P13.1","CMB9-22P13.1","CMB9-22P13.1"
"313",4.01263863181537e-131,1.25020136223099,0.497,0.114,9.25956490677715e-127,"14","RP11-51J9.5","RP11-51J9.5","","","RP11-51J9.5","RP11-51J9.5","RP11-51J9.5"
"314",2.86925217286077e-128,1.42530290943785,0.915,0.577,6.62108631409352e-124,"14","SLC25A37","solute carrier family 25 member 37","14, 17, 21, 22, 3, 5","","SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011]","Mitochondrial iron-sulfur cluster biogenesis","Solute carriers"
"315",8.27045677545064e-128,0.86930261795076,1,0.858,1.90849060550299e-123,"14","HBG2","hemoglobin subunit gamma 2","14, 17, 21, 22, 3, 5","megakaryocyte","The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]","Factors involved in megakaryocyte development and platelet production","Hemoglobin subunits"
"316",1.92299738670496e-123,1.6755186981267,0.984,0.875,4.43750876956035e-119,"14","SOD1","superoxide dismutase 1","","megakaryocyte","The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2008]","Platelet degranulation ; Detoxification of Reactive Oxygen Species; Detoxification of Reactive Oxygen Species; Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation",""
"317",2.41302608468821e-122,0.8299244957097,0.835,0.339,5.56829899302652e-118,"14","AC104389.1","AC104389.1","14, 17, 21, 5","","AC104389.1","AC104389.1","AC104389.1"
"318",4.51449702840346e-116,1.25215375522107,0.56,0.169,1.04176533427438e-111,"14","STK17A","serine/threonine kinase 17a","14, 19","","This gene is a member of the DAP kinase-related apoptosis-inducing protein kinase family and encodes an autophosphorylated nuclear protein with a protein kinase domain. The protein has apoptosis-inducing activity. [provided by RefSeq, Jul 2008]","","Death associated protein kinases"
"319",1.83515128160161e-109,1.29160702699252,0.714,0.313,4.23479509742388e-105,"14","HMBS","hydroxymethylbilane synthase","14, 17, 22, 3","","This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]","Heme biosynthesis",""
"320",4.75932116087437e-104,2.00712270746553,0.934,0.817,1.09826095108337e-99,"14","S100A6","S100 calcium binding protein A6","14, 15, 20","","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-dependent insulin release, stimulation of prolactin secretion, and exocytosis. Chromosomal rearrangements and altered expression of this gene have been implicated in melanoma. [provided by RefSeq, Jul 2008]","","S100 calcium binding proteins|EF-hand domain containing"
"321",1.29074189698658e-95,1.28738464052107,0.791,0.385,2.97851600148623e-91,"14","SLC2A1","solute carrier family 2 member 1","14, 18, 6","","This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]","Cellular hexose transport; Vitamin C (ascorbate) metabolism; Regulation of insulin secretion; Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1); Lactose synthesis","Solute carriers"
"322",2.08648803532283e-91,2.70579286666198,0.865,0.627,4.81477979031096e-87,"14","SNHG25","small nucleolar RNA host gene 25","","","Not available","",""
"323",1.6150327625251e-90,0.861196036276325,0.635,0.258,3.72684960280292e-86,"14","FAM210B","family with sequence similarity 210 member B","14, 17, 21, 22, 3, 5","","Not available","",""
"324",4.69722663619536e-87,1.61657745124896,0.736,0.426,1.08393201856844e-82,"14","SNHG9","small nucleolar RNA host gene 9","","","Not available","",""
"325",7.50149305928365e-82,0.849839761355802,0.475,0.153,1.73104453836029e-77,"14","HIST3H2A","histone cluster 3 H2A","14, 22","","Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]","HDACs deacetylate histones; HATs acetylate histones; HATs acetylate histones; RMTs methylate histone arginines; UCH proteinases; Ub-specific processing proteases; Metalloprotease DUBs","Histones"
"326",1.34360053232998e-79,0.823469748763056,0.761,0.468,3.10049258840467e-75,"14","ADIPOR1","adiponectin receptor 1","14, 21, 5","adipocytes","This gene encodes a protein which acts as a receptor for adiponectin, a hormone secreted by adipocytes which regulates fatty acid catabolism and glucose levels. Binding of adiponectin to the encoded protein results in activation of an AMP-activated kinase signaling pathway which affects levels of fatty acid oxidation and insulin sensitivity. A pseudogene of this gene is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2014]","AMPK inhibits chREBP transcriptional activation activity; AMPK inhibits chREBP transcriptional activation activity","Adiponectin receptors|Progestin and adipoQ receptor family"
"327",1.29067230606938e-74,1.26117806922016,0.876,0.713,2.97835541348569e-70,"14","MAP1LC3B","microtubule associated protein 1 light chain 3 beta","",""," The product of this gene is a subunit of neuronal microtubule-associated MAP1A and MAP1B proteins, which are involved in microtubule assembly and important for neurogenesis. Studies on the rat homolog implicate a role for this gene in autophagy, a process that involves the bulk degradation of cytoplasmic component. [provided by RefSeq, Jul 2008]","Macroautophagy; Pink/Parkin Mediated Mitophagy; TBC/RABGAPs; Receptor Mediated Mitophagy","Autophagy related"
"328",6.39818708569465e-66,1.57590266038462,0.514,0.215,1.4764456518949e-61,"14","METTL12","METTL12","","","METTL12","METTL12","METTL12"
"329",8.40632311974417e-65,1.11374274528002,0.615,0.305,1.93984312311216e-60,"14","GDF15","growth differentiation factor 15","14, 20","","This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The protein is expressed in a broad range of cell types, acts as a pleiotropic cytokine and is involved in the stress response program of cells after cellular injury. Increased protein levels are associated with disease states such as tissue hypoxia, inflammation, acute injury and oxidative stress. [provided by RefSeq, Aug 2016]","",""
"330",1.66179116867939e-63,1.34303905217347,0.824,0.633,3.83474930084457e-59,"14","SQSTM1","sequestosome 1","","","This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009]","NRIF signals cell death from the nucleus; p75NTR recruits signalling complexes; NF-kB is activated and signals survival; Pink/Parkin Mediated Mitophagy; Interleukin-1 signaling","Zinc fingers ZZ-type"
"331",4.47371907469857e-55,0.795370495749969,0.495,0.196,1.03235541367744e-50,"14","HEMGN","hemogen","14, 17, 22, 3, 5","","Not available","",""
"332",4.98798187820114e-52,0.911510338265753,1,1,1.1510266982137e-47,"14","FTH1","ferritin heavy chain 1","14, 15","neutrophil granulocyte","This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]","Scavenging by Class A Receptors; Golgi Associated Vesicle Biogenesis; Neutrophil degranulation; Iron uptake and transport","Ferritin subunits"
"333",9.76657435489803e-49,1.82507503863499,0.871,0.849,2.25373469813627e-44,"14","RPS27L","ribosomal protein S27 like","","","This gene encodes a protein sharing 96% amino acid similarity with ribosomal protein S27, which suggests the encoded protein may be a component of the 40S ribosomal subunit. [provided by RefSeq, Jul 2008]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Translation initiation complex formation; Formation of a pool of free 40S subunits; Formation of the ternary complex, and subsequently, the 43S complex; Ribosomal scanning and start codon recognition; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","S ribosomal proteins"
"334",7.85048108107633e-48,1.51072589903632,0.695,0.518,1.81157701426917e-43,"14","SLC38A2","solute carrier family 38 member 2","","","Not available","Glutamate Neurotransmitter Release Cycle; Amino acid transport across the plasma membrane","Solute carriers"
"335",9.41348656980325e-46,0.787366896650097,0.363,0.135,2.1722561608478e-41,"14","KMT2E-AS1","KMT2E antisense RNA 1","","","Not available","",""
"336",1.77171885715431e-41,0.796777779943477,0.857,0.873,4.0884184347693e-37,"14","PRDX2","peroxiredoxin 2","14, 17, 22, 3","","This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein plays an antioxidant protective role in cells, and it may contribute to the antiviral activity of CD8(+) T-cells. The crystal structure of this protein has been resolved to 2.7 angstroms. This protein prevents hemolytic anemia from oxidative stress by stabilizing hemoglobin, thus making this gene a therapeutic target for patients with hemolytic anemia. This protein may have a proliferative effect and play a role in cancer development or progression. Related pseudogenes have been identified on chromosomes 5, 6, 10 and 13. [provided by RefSeq, Mar 2013]","Detoxification of Reactive Oxygen Species; TP53 Regulates Metabolic Genes; Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models","Peroxiredoxins"
"337",4.5897468976277e-40,1.30654239739294,0.459,0.239,1.05912999409657e-35,"14","CTA-29F11.1","CTA-29F11.1","","","CTA-29F11.1","CTA-29F11.1","CTA-29F11.1"
"338",1.21573153831341e-31,0.849024397343452,0.728,0.607,2.80542209781202e-27,"14","LINC00152","LINC00152","","","LINC00152","LINC00152","LINC00152"
"339",9.3576492222755e-28,1.25002624960379,0.522,0.366,2.1593711345323e-23,"14","DDIT3","DNA damage inducible transcript 3","","adipocytes","This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by endoplasmic reticulum stress, and promotes apoptosis. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in myxoid liposarcomas or Ewing sarcoma. Multiple alternatively spliced transcript variants encoding two isoforms with different length have been identified. [provided by RefSeq, Aug 2010]","ATF4 activates genes; ATF6 (ATF6-alpha) activates chaperone genes",""
"340",1.05884708302479e-27,0.914409346739757,0.794,0.722,2.44339552878801e-23,"14","BAX","BCL2 associated X, apoptosis regulator","","","The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Jul 2008]","Release of apoptotic factors from the mitochondria; Activation, translocation and oligomerization of BAX; TP53 Regulates Transcription of Genes Involved in Cytochrome C Release; TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest; Transcriptional regulation by RUNX2; NTRK3 as a dependence receptor","BCL2 family"
"341",1.68637797040747e-27,0.980658998044325,0.456,0.284,3.89148580451229e-23,"14","SNHG19","small nucleolar RNA host gene 19","","","Not available","",""
"342",2.50054184758242e-21,0.846003111004035,0.951,0.929,5.77025036748119e-17,"14","RPL36AL","ribosomal protein L36a like","","","Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. This gene and the human gene officially named ribosomal protein L36a (RPL36A) encode nearly identical proteins; however, they are distinct genes. Although the name of this gene has been referred to as ribosomal protein L36a (RPL36A), its official name is ribosomal protein L36a-like (RPL36AL). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Formation of a pool of free 40S subunits; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","L ribosomal proteins"
"343",5.60150369180348e-18,0.976776767682453,0.629,0.57,1.29260299192057e-13,"14","MT1X","metallothionein 1X","14, 15, 21, 22, 3","","Not available","Metallothioneins bind metals","Metallothioneins"
"344",6.46810850883559e-17,0.780185577000836,0.97,0.984,1.4925807194989e-12,"14","EIF1","eukaryotic translation initiation factor 1","","","Not available","",""
"345",1.89259709802815e-16,1.97932925274939,0.525,0.477,4.36735706340975e-12,"14","CDKN1A","cyclin dependent kinase inhibitor 1A","","","This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2015]","SCF(Skp2)-mediated degradation of p27/p21; AKT phosphorylates targets in the cytosol; Senescence-Associated Secretory Phenotype (SASP); Formation of Senescence-Associated Heterochromatin Foci (SAHF); DNA Damage/Telomere Stress Induced Senescence; Constitutive Signaling by AKT1 E17K in Cancer; Interleukin-4 and Interleukin-13 signaling; TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest; Cyclin E associated events during G1/S transition ; Cyclin D associated events in G1; p53-Dependent G1 DNA Damage Response; Cyclin A:Cdk2-associated events at S phase entry; Transcriptional  activation of  cell cycle inhibitor p21 ; The role of GTSE1 in G2/M progression after G2 checkpoint; TFAP2 (AP-2) family regulates transcription of cell cycle factors; Transcriptional regulation by RUNX2; RUNX3 regulates CDKN1A transcription",""
"346",2.5814631576168e-16,1.18810139925843,0.401,0.293,5.95698438251652e-12,"14","TRIAP1","TP53 regulated inhibitor of apoptosis 1","","","Not available","TP53 Regulates Transcription of Genes Involved in Cytochrome C Release",""
"347",4.18683099946869e-15,1.07536241957846,0.495,0.4,9.66153121437396e-11,"14","HIST1H1C","histone cluster 1 H1 family member c","14, 20","","Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]","Activation of DNA fragmentation factor; Formation of Senescence-Associated Heterochromatin Foci (SAHF)","Histones"
"348",1.05424278791896e-11,0.790065512756263,0.808,0.798,2.4327706574018e-07,"14","DNAJA1","DnaJ heat shock protein family (Hsp40) member A1","","","This gene encodes a member of the DnaJ family of proteins, which act as heat shock protein 70 cochaperones. Heat shock proteins facilitate protein folding, trafficking, prevention of aggregation, and proteolytic degradation. Members of this family are characterized by a highly conserved N-terminal J domain, a glycine/phenylalanine-rich region, four CxxCxGxG zinc finger repeats, and a C-terminal substrate-binding domain. The J domain mediates the interaction with heat shock protein 70 to recruit substrates and regulate ATP hydrolysis activity. In humans, this gene has been implicated in positive regulation of virus replication through co-option by the influenza A virus. Several pseudogenes of this gene are found on other chromosomes. [provided by RefSeq, Sep 2015]","HSP90 chaperone cycle for steroid hormone receptors (SHR)","DNAJ (HSP40) heat shock proteins"
"349",9.91127068338463e-11,0.820279523349456,0.5,0.449,2.28712482289784e-06,"14","THUMPD3-AS1","THUMPD3 antisense RNA 1","","","Not available","",""
"350",1.39100937569675e-09,0.936380060495632,0.519,0.495,3.20989323535783e-05,"14","MT1E","metallothionein 1E","14, 22, 3, 8","","Not available","Metallothioneins bind metals","Metallothioneins"
"351",0,2.60722389061045,0.753,0.088,0,"15","HLA-DRB5","major histocompatibility complex, class II, DR beta 5","","dendritic cell, macrophage","HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB5 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]","Downstream TCR signaling; Phosphorylation of CD3 and TCR zeta chains; Translocation of ZAP-70 to Immunological synapse; Generation of second messenger molecules; MHC class II antigen presentation; PD-1 signaling; Interferon gamma signaling","Histocompatibility complex|C1-set domain containing"
"352",0,2.59344865518022,0.843,0.134,0,"15","HLA-DRB1","major histocompatibility complex, class II, DR beta 1","","dendritic cell, macrophage","HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]","Downstream TCR signaling; Phosphorylation of CD3 and TCR zeta chains; Translocation of ZAP-70 to Immunological synapse; Generation of second messenger molecules; MHC class II antigen presentation; PD-1 signaling; Interferon gamma signaling","Histocompatibility complex|C1-set domain containing"
"353",0,2.48192621172208,0.772,0.118,0,"15","HLA-DPA1","major histocompatibility complex, class II, DP alpha 1","","dendritic cell, macrophage","HLA-DPA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta (DPB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]","Downstream TCR signaling; Phosphorylation of CD3 and TCR zeta chains; Translocation of ZAP-70 to Immunological synapse; Generation of second messenger molecules; MHC class II antigen presentation; PD-1 signaling; Interferon gamma signaling","Histocompatibility complex|C1-set domain containing"
"354",0,1.9531573582653,0.742,0.051,0,"15","FCN1","ficolin 1","","neutrophil granulocyte"," The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins.  However, all these proteins recognize different targets, and are functionally distinct.  Ficolin 1 encoded by FCN1 is predominantly expressed in the peripheral blood leukocytes, and has been postulated to function as a plasma protein with elastin-binding activity. [provided by RefSeq, Jul 2008]","Lectin pathway of complement activation; Initial triggering of complement; Ficolins bind to repetitive carbohydrate structures on the target cell surface; Neutrophil degranulation","Fibrinogen C domain containing|Complement system activation components"
"355",0,1.68836615596894,0.618,0.011,0,"15","HLA-DQA1","major histocompatibility complex, class II, DQ alpha 1","","dendritic cell, macrophage","HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq, Jul 2008]","Downstream TCR signaling; Phosphorylation of CD3 and TCR zeta chains; Translocation of ZAP-70 to Immunological synapse; Generation of second messenger molecules; MHC class II antigen presentation; PD-1 signaling; Interferon gamma signaling","Histocompatibility complex|C1-set domain containing"
"356",0,1.6103251316975,0.688,0.039,0,"15","HLA-DQB1","major histocompatibility complex, class II, DQ beta 1","","dendritic cell, macrophage","HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]","Interferon gamma signaling","Histocompatibility complex|C1-set domain containing"
"357",0,1.44544289720107,0.545,0.006,0,"15","HLA-DQA2","major histocompatibility complex, class II, DQ alpha 2","","dendritic cell, macrophage","This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on the cell surface to be recognized by CD4 T-cells. [provided by RefSeq, Jun 2010]","Downstream TCR signaling; Phosphorylation of CD3 and TCR zeta chains; Translocation of ZAP-70 to Immunological synapse; Generation of second messenger molecules; MHC class II antigen presentation; PD-1 signaling; Interferon gamma signaling","Histocompatibility complex|C1-set domain containing"
"358",0,1.33523735889782,0.669,0.091,0,"15","HLA-DMA","major histocompatibility complex, class II, DM alpha","","dendritic cell, macrophage","HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq, Jul 2008]","MHC class II antigen presentation","Histocompatibility complex|C1-set domain containing"
"359",0,1.21030562117293,0.657,0.051,0,"15","CSTA","cystatin A","","progenitor","The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins, and kininogens. This gene encodes a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The protein is one of the precursor proteins of cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Stefins have been proposed as prognostic and diagnostic tools for cancer. [provided by RefSeq, Jul 2008]","Formation of the cornified envelope","Cystatins, type 1"
"360",0,1.16957513223959,0.354,0.013,0,"15","APOBEC3A","apolipoprotein B mRNA editing enzyme catalytic subunit 3A","","","This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]","mRNA Editing: C to U Conversion; Formation of the Editosome","Apolipoprotein B mRNA editing enzyme catalytic subunits"
"361",4.48538102157256e-297,1.36124321853598,0.89,0.191,1.03504652453808e-292,"15","LSP1","lymphocyte specific protein 1","15, 19, 9","endothelial cells, macrophage, neutrophil granulocyte","This gene encodes an intracellular F-actin binding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","",""
"362",3.2684957299268e-293,3.28324182641022,0.888,0.217,7.54238074637907e-289,"15","HLA-DRA","major histocompatibility complex, class II, DR alpha","","dendritic cell, macrophage","HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. [provided by RefSeq, Jul 2008]","Downstream TCR signaling; Phosphorylation of CD3 and TCR zeta chains; Translocation of ZAP-70 to Immunological synapse; Generation of second messenger molecules; MHC class II antigen presentation; PD-1 signaling; Interferon gamma signaling","Histocompatibility complex|C1-set domain containing"
"363",8.28549039880952e-262,2.81696474068392,0.879,0.243,1.91195976442928e-257,"15","LYZ","lysozyme","15, 9","neutrophil granulocyte","This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the antimicrobial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. The protein has antibacterial activity against a number of bacterial species. Missense mutations in this gene have been identified in heritable renal amyloidosis. [provided by RefSeq, Oct 2014]","Neutrophil degranulation; Antimicrobial peptides; Amyloid fiber formation","Lysozymes, c-type"
"364",4.42367081085749e-253,1.49781336932383,0.629,0.1,1.02080627631347e-248,"15","OLR1","oxidized low density lipoprotein receptor 1","","neutrophil granulocyte","This gene encodes a low density lipoprotein receptor that belongs to the C-type lectin superfamily. This gene is regulated through the cyclic AMP signaling pathway. The encoded protein binds, internalizes and degrades oxidized low-density lipoprotein. This protein may be involved in the regulation of Fas-induced apoptosis. This protein may play a role as a scavenger receptor. Mutations of this gene have been associated with atherosclerosis, risk of myocardial infarction, and may modify the risk of Alzheimer's disease. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]","Cell surface interactions at the vascular wall; Neutrophil degranulation","Scavenger receptors|C-type lectin domain containing"
"365",2.78606090164249e-238,2.263016726021,0.688,0.136,6.42911413663022e-234,"15","C15orf48","chromosome 15 open reading frame 48","","","This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jun 2012]","",""
"366",6.58644549374845e-236,2.3656364566743,0.733,0.163,1.51988816213739e-231,"15","HLA-DPB1","major histocompatibility complex, class II, DP beta 1","","dendritic cell, macrophage","HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]","Downstream TCR signaling; Phosphorylation of CD3 and TCR zeta chains; Translocation of ZAP-70 to Immunological synapse; Generation of second messenger molecules; MHC class II antigen presentation; PD-1 signaling; Interferon gamma signaling","Histocompatibility complex|C1-set domain containing"
"367",1.1532811805513e-220,1.89451028255009,0.792,0.202,2.66131165224019e-216,"15","BCL2A1","BCL2 related protein A1","","macrophage","This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","","Minor histocompatibility antigens|BCL2 family"
"368",1.22532648485731e-202,2.08896023541623,0.834,0.275,2.82756339645673e-198,"15","CD52","CD52 molecule","15, 19, 9","","Not available","Post-translational modification: synthesis of GPI-anchored proteins","CD molecules"
"369",2.07818571635308e-198,1.43781567065467,0.862,0.282,4.79562135905637e-194,"15","CD44","CD44 molecule (Indian blood group)","15, 19","neutrophil granulocyte","The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]","Degradation of the extracellular matrix; Cell surface interactions at the vascular wall; Integrin cell surface interactions; Hyaluronan uptake and degradation; Neutrophil degranulation; Interferon gamma signaling","Blood group antigens|CD molecules|Proteoglycans"
"370",5.81615941706559e-196,2.7938178607438,0.961,0.515,1.34213694708205e-191,"15","CD74","CD74 molecule","15, 2, 9","macrophage, progenitor","The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]","Cell surface interactions at the vascular wall; MHC class II antigen presentation","CD molecules"
"371",2.83360881892426e-165,1.83840209218307,0.969,0.653,6.53883571054962e-161,"15","HLA-B","major histocompatibility complex, class I, B","15, 2","lymphoid, neutrophil granulocyte","HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]","ER-Phagosome pathway; ER-Phagosome pathway; Endosomal/Vacuolar pathway; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; Neutrophil degranulation; Interferon gamma signaling; Interferon alpha/beta signaling; Antigen Presentation: Folding, assembly and peptide loading of class I MHC; Antigen Presentation: Folding, assembly and peptide loading of class I MHC","Histocompatibility complex|C1-set domain containing"
"372",1.75657339649234e-164,1.76469716584137,0.904,0.412,4.05346876974572e-160,"15","PLAUR","plasminogen activator, urokinase receptor","1, 15","neutrophil granulocyte","This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. It binds both the proprotein and mature forms of urokinase plasminogen activator and permits the activation of the receptor-bound pro-enzyme by plasmin. The protein lacks transmembrane or cytoplasmic domains and may be anchored to the plasma membrane by a glycosyl-phosphatidylinositol (GPI) moiety following cleavage of the nascent polypeptide near its carboxy-terminus. However, a soluble protein is also produced in some cell types. Alternative splicing results in multiple transcript variants encoding different isoforms. The proprotein experiences several post-translational cleavage reactions that have not yet been fully defined. [provided by RefSeq, Jul 2008]","Attachment of GPI anchor to uPAR; Neutrophil degranulation; Dissolution of Fibrin Clot","CD molecules|LY6/PLAUR domain containing"
"373",3.5061827348932e-157,1.19804345213733,0.772,0.271,8.09086727903954e-153,"15","CAPG","capping actin protein, gelsolin like","","","This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2012]","","Gelsolin/villins"
"374",1.89554044912617e-151,1.29141309575402,0.907,0.427,4.37414914040354e-147,"15","CTSS","cathepsin S","","macrophage, neutrophil granulocyte","The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may participate in the degradation of antigenic proteins to peptides for presentation on MHC class II molecules. The encoded protein can function as an elastase over a broad pH range in alveolar macrophages. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]","Endosomal/Vacuolar pathway; Degradation of the extracellular matrix; Degradation of the extracellular matrix; Trafficking and processing of endosomal TLR; Assembly of collagen fibrils and other multimeric structures; MHC class II antigen presentation; Neutrophil degranulation","Cathepsins"
"375",3.79083046993738e-151,1.30778460107379,0.902,0.471,8.7477203924275e-147,"15","TSPO","translocator protein","","","Present mainly in the mitochondrial compartment of peripheral tissues, the protein encoded by this gene interacts with some benzodiazepines and has different affinities than its endogenous counterpart. The protein is a key factor in the flow of cholesterol into mitochondria to permit the initiation of steroid hormone synthesis. Alternatively spliced transcript variants have been reported; one of the variants lacks an internal exon and is considered non-coding, and the other variants encode the same protein. [provided by RefSeq, Feb 2012]","Pregnenolone biosynthesis",""
"376",1.23302252071497e-145,1.52677149368515,0.952,0.656,2.84532276880186e-141,"15","HLA-A","major histocompatibility complex, class I, A","","lymphoid","HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]","ER-Phagosome pathway; ER-Phagosome pathway; Endosomal/Vacuolar pathway; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; Interferon gamma signaling; E3 ubiquitin ligases ubiquitinate target proteins; Interferon alpha/beta signaling; Antigen Presentation: Folding, assembly and peptide loading of class I MHC; Antigen Presentation: Folding, assembly and peptide loading of class I MHC","Histocompatibility complex|C1-set domain containing"
"377",7.3401718184536e-140,2.47930475792069,0.618,0.174,1.69381804882635e-135,"15","G0S2","G0/G1 switch 2","","","Not available","PPARA activates gene expression",""
"378",3.64730059993277e-139,1.60780935003557,0.955,0.682,8.41651086440486e-135,"15","HLA-C","major histocompatibility complex, class I, C","","lymphoid, neutrophil granulocyte","HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]","ER-Phagosome pathway; ER-Phagosome pathway; Endosomal/Vacuolar pathway; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; Neutrophil degranulation; Interferon gamma signaling; Interferon alpha/beta signaling; Antigen Presentation: Folding, assembly and peptide loading of class I MHC; Antigen Presentation: Folding, assembly and peptide loading of class I MHC","Histocompatibility complex|C1-set domain containing"
"379",7.08848723515046e-135,1.44028171414462,0.992,0.736,1.63573931438332e-130,"15","SRGN","serglycin","1, 15, 19","megakaryocyte","This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. Two transcript variants, only one of them protein-coding, have been found for this gene. [provided by RefSeq, Jul 2010]","Platelet degranulation ","Proteoglycans"
"380",2.04501359907662e-133,1.33633357412679,1,1,4.71907338122922e-129,"15","FTH1","ferritin heavy chain 1","14, 15","neutrophil granulocyte","This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]","Scavenging by Class A Receptors; Golgi Associated Vesicle Biogenesis; Neutrophil degranulation; Iron uptake and transport","Ferritin subunits"
"381",5.5566123563745e-133,1.37063357072125,1,0.928,1.28224386735698e-128,"15","B2M","beta-2-microglobulin","15, 2","lymphoid, neutrophil granulocyte","This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014]","ER-Phagosome pathway; ER-Phagosome pathway; Endosomal/Vacuolar pathway; Nef mediated downregulation of MHC class I complex cell surface expression; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; DAP12 interactions; DAP12 signaling; DAP12 signaling; Neutrophil degranulation; Interferon gamma signaling; Amyloid fiber formation; Antigen Presentation: Folding, assembly and peptide loading of class I MHC","C1-set domain containing"
"382",3.11096449502078e-132,1.7744900074866,0.301,0.038,7.17886166870995e-128,"15","S100A12","S100 calcium binding protein A12","","neutrophil granulocyte","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is proposed to be involved in specific calcium-dependent signal transduction pathways and its regulatory effect on cytoskeletal components may modulate various neutrophil activities. The protein includes an antimicrobial peptide which has antibacterial activity. [provided by RefSeq, Nov 2014]","TAK1 activates NFkB by phosphorylation and activation of IKKs complex; Neutrophil degranulation; Advanced glycosylation endproduct receptor signaling; Advanced glycosylation endproduct receptor signaling; TRAF6 mediated NF-kB activation","S100 calcium binding proteins|EF-hand domain containing"
"383",3.33618171709024e-129,3.18880997841193,0.803,0.394,7.69857293035744e-125,"15","S100A8","S100 calcium binding protein A8","","neutrophil granulocyte","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and as a cytokine. Altered expression of this protein is associated with the disease cystic fibrosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]","Regulation of TLR by endogenous ligand; Neutrophil degranulation; Metal sequestration by antimicrobial proteins","S100 calcium binding proteins|EF-hand domain containing"
"384",2.78283049532109e-125,1.40901438965304,0.961,0.817,6.42165965100295e-121,"15","S100A6","S100 calcium binding protein A6","14, 15, 20","","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-dependent insulin release, stimulation of prolactin secretion, and exocytosis. Chromosomal rearrangements and altered expression of this gene have been implicated in melanoma. [provided by RefSeq, Jul 2008]","","S100 calcium binding proteins|EF-hand domain containing"
"385",3.58254485601175e-125,1.20643763284223,1,0.879,8.26708050973271e-121,"15","SAT1","spermidine/spermine N1-acetyltransferase 1","10, 12, 15, 2, 20","","The protein encoded by this gene belongs to the acetyltransferase family, and is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the acetylation of spermidine and spermine, and is involved in the regulation of the intracellular concentration of polyamines and their transport out of cells. Defects in this gene are associated with keratosis follicularis spinulosa decalvans (KFSD). Alternatively spliced transcripts have been found for this gene.[provided by RefSeq, Sep 2009]","Interconversion of polyamines","GCN5 related N-acetyltransferases"
"386",6.14033417493667e-115,1.36088827598111,0.978,0.862,1.41694351420839e-110,"15","PSAP","prosaposin","12, 15","megakaryocyte, neutrophil granulocyte, progenitor","This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]","Platelet degranulation ; Glycosphingolipid metabolism; Peptide ligand-binding receptors; G alpha (i) signalling events; Neutrophil degranulation","Endogenous ligands"
"387",8.79691899327307e-103,1.15884520702735,0.89,0.488,2.02997702688769e-98,"15","S100A10","S100 calcium binding protein A10","15, 16, 18, 4","","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in exocytosis and endocytosis. [provided by RefSeq, Jul 2008]","Dissolution of Fibrin Clot","S100 calcium binding proteins"
"388",2.37436548772706e-100,2.23685436358574,0.396,0.087,5.47908579947895e-96,"15","CCL20","C-C motif chemokine ligand 20","","myeloid, progenitor","This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene displays chemotactic activity for lymphocytes and can repress proliferation of myeloid progenitors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]","Chemokine receptors bind chemokines; G alpha (i) signalling events; Interleukin-10 signaling","Chemokine ligands|Endogenous ligands"
"389",9.88832046208384e-99,1.37420196961204,0.744,0.334,2.28182882983047e-94,"15","LGALS3","galectin 3","15, 8","myeloid, neutrophil granulocyte","This gene encodes a member of the galectin family of carbohydrate binding proteins. Members of this protein family have an affinity for beta-galactosides. The encoded protein is characterized by an N-terminal proline-rich tandem repeat domain and a single C-terminal carbohydrate recognition domain. This protein can self-associate through the N-terminal domain allowing it to bind to multivalent saccharide ligands. This protein localizes to the extracellular matrix, the cytoplasm and the nucleus. This protein plays a role in numerous cellular functions including apoptosis, innate immunity, cell adhesion and T-cell regulation. The protein exhibits antimicrobial activity against bacteria and fungi. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2014]","Neutrophil degranulation; Advanced glycosylation endproduct receptor signaling; RUNX1 regulates transcription of genes involved in differentiation of myeloid cells; RUNX2 regulates genes involved in differentiation of myeloid cells","Endogenous ligands|Galectins"
"390",7.84203977522738e-97,1.45821495859432,0.907,0.662,1.80962909853147e-92,"15","SOD2","superoxide dismutase 2","1, 15","","This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016]","Transcriptional activation of mitochondrial biogenesis; Detoxification of Reactive Oxygen Species; Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models; Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation",""
"391",7.50068670495706e-77,1.64699049078592,0.787,0.447,1.73085846403589e-72,"15","IL1B","interleukin 1 beta","1, 15","macrophage","The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq, Jul 2008]","Interleukin-1 processing; CLEC7A/inflammasome pathway; Interleukin-10 signaling; Interleukin-4 and Interleukin-13 signaling; Interleukin-1 signaling","Endogenous ligands|Interleukins"
"392",1.55050705148844e-61,1.18863394007226,0.683,0.37,3.57795007201473e-57,"15","GPR183","G protein-coupled receptor 183","15, 2","lymphoid","This gene was identified by the up-regulation of its expression upon Epstein-Barr virus infection of primary B lymphocytes. This gene is predicted to encode a G protein-coupled receptor that is most closely related to the thrombin receptor. Expression of this gene was detected in B-lymphocyte cell lines and lymphoid tissues but not in T-lymphocyte cell lines or peripheral blood T lymphocytes. The function of this gene is unknown. [provided by RefSeq, Jul 2008]","Class A/1 (Rhodopsin-like receptors); G alpha (i) signalling events","G protein-coupled receptors, Class A orphans"
"393",7.41134775278875e-59,1.26997663938834,0.756,0.471,1.71024260743353e-54,"15","IL1RN","interleukin 1 receptor antagonist","1, 15","","The protein encoded by this gene is a member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jan 2016]","Interleukin-10 signaling; Interleukin-1 signaling","Endogenous ligands|Interleukins|Interleukin receptors"
"394",2.09346213285634e-52,1.40759170834107,0.831,0.675,4.83087321777929e-48,"15","CXCL8","C-X-C motif chemokine ligand 8","1, 15","neutrophil granulocyte","The protein encoded by this gene is a member of the CXC chemokine family and is a major mediator of the inflammatory response. The encoded protein is secreted primarily by neutrophils, where it serves as a chemotactic factor by guiding the neutrophils to the site of infection. This chemokine is also a potent angiogenic factor. This gene is believed to play a role in the pathogenesis of bronchiolitis, a common respiratory tract disease caused by viral infection. This gene and other members of the CXC chemokine gene family form a gene cluster in a region of chromosome 4q. [provided by RefSeq, Aug 2017]","Senescence-Associated Secretory Phenotype (SASP); Peptide ligand-binding receptors; Chemokine receptors bind chemokines; ATF4 activates genes; G alpha (i) signalling events; Interleukin-10 signaling; Interleukin-4 and Interleukin-13 signaling","Chemokine ligands|Endogenous ligands|Interleukins"
"395",3.48711545625398e-50,1.72566184758852,0.902,0.749,8.04686762685169e-46,"15","S100A9","S100 calcium binding protein A9","0, 1, 15, 7","neutrophil granulocyte","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and altered expression of this protein is associated with the disease cystic fibrosis. This antimicrobial protein exhibits antifungal and antibacterial activity. [provided by RefSeq, Nov 2014]","Regulation of TLR by endogenous ligand; Neutrophil degranulation; Metal sequestration by antimicrobial proteins","S100 calcium binding proteins|EF-hand domain containing"
"396",2.16963076908432e-49,1.7876406955374,0.559,0.283,5.00663996273897e-45,"15","CXCL3","C-X-C motif chemokine ligand 3","13, 15","neutrophil granulocyte","This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. [provided by RefSeq, Sep 2014]","Chemokine receptors bind chemokines; G alpha (i) signalling events","Chemokine ligands|Endogenous ligands"
"397",9.29562624518752e-40,1.68260776864631,0.75,0.618,2.14505871233947e-35,"15","APOC1","apolipoprotein C1","15, 8","macrophage, monocyte","This gene encodes a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. The encoded protein plays a central role in high density lipoprotein (HDL) and very low density lipoprotein (VLDL) metabolism. This protein has also been shown to inhibit cholesteryl ester transfer protein in plasma. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Sep 2016]","VLDL assembly; VLDL clearance; VLDL clearance","Apolipoproteins"
"398",1.71272217050287e-34,1.5743919027451,0.638,0.431,3.95227768065243e-30,"15","CXCL2","C-X-C motif chemokine ligand 2","1, 15","progenitor","This antimicrobial gene is part of a chemokine superfamily that encodes secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CXC subfamily, is expressed at sites of inflammation and may suppress hematopoietic progenitor cell proliferation. [provided by RefSeq, Sep 2014]","Chemokine receptors bind chemokines; G alpha (i) signalling events; Interleukin-10 signaling","Chemokine ligands|Endogenous ligands"
"399",2.62032180884161e-20,1.61109469036647,0.899,0.826,6.04665460608291e-16,"15","MT2A","metallothionein 2A","15, 21, 22, 3","","This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions, altering the intracellular concentration of heavy metals in the cell. These proteins act as anti-oxidants, protect against hydroxyl free radicals, are important in homeostatic control of metal in the cell, and play a role in detoxification of heavy metals. The encoded protein interacts with the protein encoded by the homeobox containing 1 gene in some cell types, controlling intracellular zinc levels, affecting apoptotic and autophagy pathways. Some polymorphisms in this gene are associated with an increased risk of cancer. [provided by RefSeq, Sep 2017]","Metallothioneins bind metals; Metallothioneins bind metals; Interferon gamma signaling","Metallothioneins"
"400",0.0316861462184967,1.65953691731083,0.562,0.571,1,"15","MT1X","metallothionein 1X","14, 15, 21, 22, 3","","Not available","Metallothioneins bind metals","Metallothioneins"
"401",0,2.6840204758604,1,0.199,0,"16","POSTN","periostin","16, 4","","This gene encodes a secreted extracellular matrix protein that functions in tissue development and regeneration, including wound healing, and ventricular remodeling following myocardial infarction. The encoded protein binds to integrins to support adhesion and migration of epithelial cells. This protein plays a role in cancer stem cell maintenance and metastasis. Mice lacking this gene exhibit cardiac valve disease, and skeletal and dental defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]","","Gla domain containing"
"402",0,2.60923912630924,0.979,0.149,0,"16","MGP","matrix Gla protein","16, 6","smooth muscle cell","This gene encodes a member of the osteocalcin/matrix Gla family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a physiological inhibitor of ectopic tissue calcification. Carboxylation status of the encoded protein is associated with calcification of the vasculature in human patients with cardiovascular disease and calcification of the synovial membranes in osteoarthritis patients. Mutations in this gene cause Keutel syndrome in human patients, which is characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and facial hypoplasia. [provided by RefSeq, Sep 2016]","","Gla domain containing"
"403",0,1.99014766023456,0.994,0.031,0,"16","CRABP1","cellular retinoic acid binding protein 1","","","This gene encodes a specific binding protein for a vitamin A family member and is thought to play an important role in retinoic acid-mediated differentiation and proliferation processes. It is structurally similar to the cellular retinol-binding proteins, but binds only retinoic acid at specific sites within the nucleus, which may contribute to vitamin A-directed differentiation in epithelial tissue. [provided by RefSeq, Jul 2008]","RA biosynthesis pathway","Fatty acid binding protein family"
"404",0,1.94453791503633,1,0.222,0,"16","KRT19","keratin 19","16, 18, 20","","The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically expressed in the periderm, the transiently superficial layer that envelopes the developing epidermis. The type I cytokeratins are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2008]","Keratinization; Formation of the cornified envelope","Keratins, type I"
"405",0,1.84624306211644,0.982,0.133,0,"16","PEG10","paternally expressed 10","","b cell","This is a paternally expressed imprinted gene that is thought to have been derived from the Ty3/Gypsy family of retrotransposons. It contains two overlapping open reading frames, RF1 and RF2, and expresses two proteins: a shorter, gag-like protein (with a CCHC-type zinc finger domain) from RF1; and a longer, gag/pol-like fusion protein (with an additional aspartic protease motif) from RF1/RF2 by -1 translational frameshifting (-1 FS). While -1 FS has been observed in RNA viruses and transposons in both prokaryotes and eukaryotes, this gene represents the first example of -1 FS in a eukaryotic cellular gene. This gene is highly conserved across mammalian species and retains the heptanucleotide (GGGAAAC) and pseudoknot elements required for -1 FS. It is expressed in adult and embryonic tissues (most notably in placenta) and reported to have a role in cell proliferation, differentiation and apoptosis. Overexpression of this gene has been associated with several malignancies, such as hepatocellular carcinoma and B-cell lymphocytic leukemia. Knockout mice lacking this gene showed early embryonic lethality with placental defects, indicating the importance of this gene in embryonic development. Additional isoforms resulting from alternatively spliced transcript variants, and use of upstream non-AUG (CUG) start codon have been reported for this gene. [provided by RefSeq, Oct 2014]","","Retrotransposon Gag like"
"406",0,1.79777060582561,0.997,0.053,0,"16","CHN1","chimerin 1","","","This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]","Rho GTPase cycle","Rho GTPase activating proteins|SH2 domain containing"
"407",0,1.73904750170588,1,0.239,0,"16","OLFML3","olfactomedin like 3","","","This gene encodes a member of the olfactomedin-like gene family which also includes genes encoding noelin, tiarin, myocilin, amassin, optimedin, photomedin, and latrophilin. The encoded protein is a secreted extracellular matrix glycoprotein with a C-terminal olfactomedin domain that facilitates protein-protein interactions, cell adhesion, and intercellular interactions. It serves as both a scaffold protein that recruits bone morphogenetic protein 1 to its substrate chordin, and as a vascular tissue remodeler with pro-angiogenic properties. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]","",""
"408",0,1.52337377747869,0.979,0.172,0,"16","CYR61","cysteine rich angiogenic inducer 61","16, 6","endothelial cells","The secreted protein encoded by this gene is growth factor-inducible and promotes the adhesion of endothelial cells. The encoded protein interacts with several integrins and with heparan sulfate proteoglycan. This protein also plays a role in cell proliferation, differentiation, angiogenesis, apoptosis, and extracellular matrix formation. [provided by RefSeq, Sep 2011]","Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Post-translational protein phosphorylation","CYR61/CTGF/NOV matricellular proteins"
"409",0,1.4970599527292,0.997,0.222,0,"16","PCOLCE","procollagen C-endopeptidase enhancer","16, 4","progenitor","Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, respectively, which are cleaved, upon secretion of procollagen from the cell, to yield the mature triple helical, highly structured fibrils. This gene encodes a glycoprotein which binds and drives the enzymatic cleavage of type I procollagen and heightens C-proteinase activity. [provided by RefSeq, Jul 2008]","Collagen biosynthesis and modifying enzymes; Crosslinking of collagen fibrils",""
"410",0,1.43659618377462,0.988,0.237,0,"16","CCND2","cyclin D2","","","The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK4 or CDK6 and functions as a regulatory subunit of the complex, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. Mutations in this gene are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3). [provided by RefSeq, Sep 2014]","Cyclin D associated events in G1; Regulation of RUNX1 Expression and Activity","Cyclins"
"411",0,1.39689977557052,0.952,0.053,0,"16","HAPLN1","hyaluronan and proteoglycan link protein 1","","","Not available","ECM proteoglycans","V-set domain containing"
"412",0,1.39536449627718,0.991,0.075,0,"16","PDPN","podoplanin","16, 18","","This gene encodes a type-I integral membrane glycoprotein with diverse distribution in human tissues. The physiological function of this protein may be related to its mucin-type character. The homologous protein in other species has been described as a differentiation antigen and influenza-virus receptor. The specific function of this protein has not been determined but it has been proposed as a marker of lung injury. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]","GPVI-mediated activation cascade",""
"413",0,1.38433876359649,0.843,0.054,0,"16","BDKRB1","bradykinin receptor B1","","","Bradykinin, a 9 aa peptide, is generated in pathophysiologic conditions such as inflammation, trauma, burns, shock, and allergy. Two types of G-protein coupled receptors have been found which bind bradykinin and mediate responses to these pathophysiologic conditions. The protein encoded by this gene is one of these receptors and is synthesized de novo following tissue injury. Receptor binding leads to an increase in the cytosolic calcium ion concentration, ultimately resulting in chronic and acute inflammatory responses. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]","Peptide ligand-binding receptors; G alpha (q) signalling events; G alpha (i) signalling events","Bradykinin receptors"
"414",0,1.32531539393202,0.988,0.174,0,"16","FKBP11","FK506 binding protein 11","16, 8","","FKBP11 belongs to the FKBP family of peptidyl-prolyl cis/trans isomerases, which catalyze the folding of proline-containing polypeptides. The peptidyl-prolyl isomerase activity of FKBP proteins is inhibited by the immunosuppressant compounds FK506 and rapamycin (Rulten et al., 2006 [PubMed 16596453]).[supplied by OMIM, Mar 2008]","","FKBP prolyl isomerases"
"415",0,1.29793685652788,0.976,0.025,0,"16","COL15A1","collagen type XV alpha 1 chain","","","This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013]","Collagen degradation; Collagen biosynthesis and modifying enzymes; Assembly of collagen fibrils and other multimeric structures; Collagen chain trimerization","Collagens|Collagen proteoglycans"
"416",0,1.28329566592123,1,0.192,0,"16","COL5A2","collagen type V alpha 2 chain","16, 4","","This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]","Collagen degradation; Extracellular matrix organization; Collagen biosynthesis and modifying enzymes; Signaling by PDGF; Assembly of collagen fibrils and other multimeric structures; Integrin cell surface interactions; Syndecan interactions; Non-integrin membrane-ECM interactions; ECM proteoglycans; NCAM1 interactions; MET activates PTK2 signaling; Collagen chain trimerization","Collagens"
"417",0,1.18029807115451,0.924,0.029,0,"16","RGS5","regulator of G protein signaling 5","","","This gene encodes a member of the regulators of G protein signaling (RGS) family. The RGS proteins are signal transduction molecules which are involved in the regulation of heterotrimeric G proteins by acting as GTPase activators. This gene is a hypoxia-inducible factor-1 dependent, hypoxia-induced gene which is involved in the induction of endothelial apoptosis. This gene is also one of three genes on chromosome 1q contributing to elevated blood pressure. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Dec 2011]","G alpha (i) signalling events","Regulators of G-protein signaling"
"418",0,1.17382352919003,0.909,0.011,0,"16","RGS4","regulator of G protein signaling 4","","","Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 4 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. Regulator of G protein signaling 4 protein is 37% identical to RGS1 and 97% identical to rat Rgs4. This protein negatively regulate signaling upstream or at the level of the heterotrimeric G protein and is localized in the cytoplasm. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]","G alpha (i) signalling events; G alpha (z) signalling events","Regulators of G-protein signaling"
"419",0,1.1493435766435,0.991,0.187,0,"16","GPX8","glutathione peroxidase 8 (putative)","","","Not available","Detoxification of Reactive Oxygen Species",""
"420",0,1.1309787537931,0.997,0.198,0,"16","TMEM98","transmembrane protein 98","16, 18","","This gene encodes a transmembrane protein. A missense mutation in this gene result in Nanophthalmos 4 (NNO4). Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2014]","",""
"421",0,1.1083066005336,0.964,0.055,0,"16","TNNT1","troponin T1, slow skeletal type","","","This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","Striated Muscle Contraction","Troponin complex subunits"
"422",0,1.09676298911915,0.976,0.167,0,"16","FKBP10","FK506 binding protein 10","","","The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]","","EF-hand domain containing|FKBP prolyl isomerases"
"423",0,1.07871158858088,0.955,0.125,0,"16","MAP1B","microtubule associated protein 1B","","progenitor","This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1B heavy chain and LC1 light chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. [provided by RefSeq, Jul 2008]","","Protein phosphatase 1 regulatory subunits"
"424",0,0.985405647983395,0.943,0.065,0,"16","NSG1","neuronal vesicle trafficking associated 1","","","Not available","",""
"425",0,0.983909846732525,0.952,0.11,0,"16","SELM","SELM","","","SELM","SELM","SELM"
"426",0,0.974122047886663,0.909,0.024,0,"16","HGF","hepatocyte growth factor","","hepatocyte, megakaryocyte","This gene encodes a protein that binds to the hepatocyte growth factor receptor to regulate cell growth, cell motility and morphogenesis in numerous cell and tissue types. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate alpha and beta chains, which form the mature heterodimer. This protein is secreted by mesenchymal cells and acts as a multi-functional cytokine on cells of mainly epithelial origin. This protein also plays a role in angiogenesis, tumorogenesis, and tissue regeneration. Although the encoded protein is a member of the peptidase S1 family of serine proteases, it lacks peptidase activity. Mutations in this gene are associated with nonsyndromic hearing loss. [provided by RefSeq, Nov 2015]","Platelet degranulation ; PIP3 activates AKT signaling; Interleukin-7 signaling; Constitutive Signaling by Aberrant PI3K in Cancer; RAF/MAP kinase cascade; Interleukin-4 and Interleukin-13 signaling; MET Receptor Activation; Negative regulation of MET activity; PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling; MET activates RAS signaling; MET activates PI3K/AKT signaling; MET activates PTPN11; MET activates PTK2 signaling; MET interacts with TNS proteins; MET activates RAP1 and RAC1; MET receptor recycling; MET activates STAT3","Deafness associated genes"
"427",0,0.969341610753403,0.967,0.153,0,"16","LMCD1","LIM and cysteine rich domains 1","","","This gene encodes a member of the LIM-domain family of zinc finger proteins. The encoded protein contains an N-terminal cysteine-rich domain and two C-terminal LIM domains. The presence of LIM domains suggests involvement in protein-protein interactions. The protein may act as a co-regulator of transcription along with other transcription factors. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]","Surfactant metabolism","LIM domain containing"
"428",0,0.952797932311929,0.879,0.008,0,"16","GAP43","growth associated protein 43","","","The protein encoded by this gene has been termed a 'growth' or 'plasticity' protein because it is expressed at high levels in neuronal growth cones during development and axonal regeneration. This protein is considered a crucial component of an effective regenerative response in the nervous system. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","L1CAM interactions",""
"429",0,0.943967143523999,0.94,0.098,0,"16","CRISPLD2","cysteine rich secretory protein LCCL domain containing 2","","neutrophil granulocyte","Not available","Neutrophil degranulation","CAP superfamily"
"430",0,0.937426614839303,0.873,0.076,0,"16","ANXA3","annexin A3","","","This gene encodes a member of the annexin family.  Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways.  This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. [provided by RefSeq, Jul 2008]","","Annexins"
"431",2.64519728760277e-288,1.43288110503701,1,0.249,6.10405726087216e-284,"16","TMEM88","transmembrane protein 88","16, 18, 4","","Not available","",""
"432",3.05770468358506e-261,1.90940987547419,1,0.298,7.05595932784089e-257,"16","DCN","decorin","16, 4, 6","","This gene encodes a member of the small leucine-rich proteoglycan family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. This protein plays a role in collagen fibril assembly. Binding of this protein to multiple cell surface receptors mediates its role in tumor suppression, including a stimulatory effect on autophagy and inflammation and an inhibitory effect on angiogenesis and tumorigenesis. This gene and the related gene biglycan are thought to be the result of a gene duplication. Mutations in this gene are associated with congenital stromal corneal dystrophy in human patients. [provided by RefSeq, Nov 2015]","Degradation of the extracellular matrix; A tetrasaccharide linker sequence is required for GAG synthesis; Chondroitin sulfate biosynthesis; Dermatan sulfate biosynthesis; CS/DS degradation; ECM proteoglycans; ECM proteoglycans; Defective B4GALT7 causes EDS, progeroid type; Defective B3GAT3 causes JDSSDHD; Defective CHST3 causes SEDCJD; Defective CHST14 causes EDS, musculocontractural type; Defective CHSY1 causes TPBS; Defective B3GALT6 causes EDSP2 and SEMDJL1","Small leucine rich repeat proteoglycans"
"433",3.72298635218715e-257,1.92774801682149,1,0.312,8.59116330630707e-253,"16","COL1A1","collagen type I alpha 1 chain","16, 4","lymphoid, megakaryocyte, osteoblast","This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]","GPVI-mediated activation cascade; Collagen degradation; Collagen degradation; Extracellular matrix organization; Collagen biosynthesis and modifying enzymes; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; Assembly of collagen fibrils and other multimeric structures; Cell surface interactions at the vascular wall; Integrin cell surface interactions; Integrin cell surface interactions; Anchoring fibril formation; Crosslinking of collagen fibrils; Syndecan interactions; Non-integrin membrane-ECM interactions; ECM proteoglycans; ECM proteoglycans; Scavenging by Class A Receptors; GP1b-IX-V activation signalling; Platelet Adhesion to exposed collagen; Platelet Adhesion to exposed collagen; Platelet Aggregation (Plug Formation); MET activates PTK2 signaling; RUNX2 regulates osteoblast differentiation; Collagen chain trimerization","Collagens"
"434",1.57162586228373e-236,2.1299781670506,1,0.394,3.62668383980595e-232,"16","COL3A1","collagen type III alpha 1 chain","16, 4, 6","lymphoid","This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]","Collagen degradation; Collagen degradation; Extracellular matrix organization; Collagen biosynthesis and modifying enzymes; Signaling by PDGF; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; Assembly of collagen fibrils and other multimeric structures; Integrin cell surface interactions; Syndecan interactions; Non-integrin membrane-ECM interactions; ECM proteoglycans; ECM proteoglycans; Scavenging by Class A Receptors; NCAM1 interactions; MET activates PTK2 signaling; Collagen chain trimerization","Collagens"
"435",2.26243304502799e-233,2.24986601842376,1,0.477,5.2207904947066e-229,"16","MDK","midkine","16, 4","","This gene encodes a member of a small family of secreted growth factors that binds heparin and responds to retinoic acid. The encoded protein promotes cell growth, migration, and angiogenesis, in particular during tumorigenesis. This gene has been targeted as a therapeutic for a variety of different disorders. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]","NOTCH2 Activation and Transmission of Signal to the Nucleus",""
"436",7.10880419775979e-215,1.5551164881322,1,0.386,1.64042765667505e-210,"16","COL1A2","collagen type I alpha 2 chain","16, 4","lymphoid, megakaryocyte","This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]","GPVI-mediated activation cascade; Collagen degradation; Collagen degradation; Extracellular matrix organization; Collagen biosynthesis and modifying enzymes; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; Assembly of collagen fibrils and other multimeric structures; Cell surface interactions at the vascular wall; Integrin cell surface interactions; Integrin cell surface interactions; Anchoring fibril formation; Crosslinking of collagen fibrils; Syndecan interactions; Non-integrin membrane-ECM interactions; ECM proteoglycans; ECM proteoglycans; Scavenging by Class A Receptors; GP1b-IX-V activation signalling; Interleukin-4 and Interleukin-13 signaling; Platelet Adhesion to exposed collagen; Platelet Adhesion to exposed collagen; Platelet Aggregation (Plug Formation); MET activates PTK2 signaling; Collagen chain trimerization","Collagens"
"437",2.26183318762825e-214,1.71756193250797,1,0.486,5.21940626377095e-210,"16","S100A10","S100 calcium binding protein A10","15, 16, 18, 4","","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in exocytosis and endocytosis. [provided by RefSeq, Jul 2008]","Dissolution of Fibrin Clot","S100 calcium binding proteins"
"438",2.75008670413995e-203,1.37225774629599,1,0.384,6.34610007847335e-199,"16","KRT8","keratin 8","16, 18, 20, 4","","This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]","Keratinization; Formation of the cornified envelope","Keratins, type II"
"439",1.61454533580959e-202,1.16621918942309,0.997,0.461,3.7257248169142e-198,"16","IL6ST","interleukin 6 signal transducer","","myocyte","The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggest that this gene plays a critical role in regulating myocyte apoptosis. Alternatively spliced transcript variants have been described. A related pseudogene has been identified on chromosome 17. [provided by RefSeq, May 2014]","Interleukin-6 signaling; Interleukin-6 signaling; MAPK3 (ERK1) activation; MAPK1 (ERK2) activation; IL-6-type cytokine receptor ligand interactions; Interleukin-35 Signalling; Interleukin-27 signaling; Interleukin-27 signaling","CD molecules|Fibronectin type III domain containing|Interleukin receptors"
"440",2.09465321341637e-190,1.76945049395437,1,0.558,4.83362175527962e-186,"16","SPARC","secreted protein acidic and cysteine rich","16, 4","megakaryocyte","This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene product has been associated with tumor suppression but has also been correlated with metastasis based on changes to cell shape which can promote tumor cell invasion. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2015]","Platelet degranulation ; ECM proteoglycans; Scavenging by Class H Receptors","SPARC family"
"441",3.43247126656181e-178,1.01183099570724,1,0.593,7.92077069471803e-174,"16","RABAC1","Rab acceptor 1","","","Not available","","YIP family"
"442",2.08143295057798e-175,1.07368860183763,1,0.879,4.80311467675374e-171,"16","NPM1","nucleophosmin 1","16, 9","myeloid","The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribosomal proteins and core histones from the nucleus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified. [provided by RefSeq, Aug 2017]","Nuclear import of Rev protein; Nuclear import of Rev protein; SUMOylation of transcription cofactors; Deposition of new CENPA-containing nucleosomes at the centromere; TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain; TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation",""
"443",5.32752994343443e-175,1.29780579416758,1,0.682,1.22938080974693e-170,"16","ANXA2","annexin A2","11, 16","neutrophil granulocyte, osteoclast","This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","Smooth Muscle Contraction; Neutrophil degranulation; Dissolution of Fibrin Clot; Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation","Annexins"
"444",1.87539331527653e-160,0.978476961453654,0.997,0.718,4.32765761433213e-156,"16","OSTC","oligosaccharyltransferase complex non-catalytic subunit","","","Not available","","Oligosaccharyltransferase complex subunits"
"445",2.12899637117528e-159,1.09497793833345,1,0.401,4.91287202612408e-155,"16","LUM","lumican","16, 4, 6","cdc, conventional dendritic cell","This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. [provided by RefSeq, Jul 2008]","Keratan sulfate biosynthesis; Keratan sulfate degradation; Integrin cell surface interactions; ECM proteoglycans; Defective CHST6 causes MCDC1; Defective ST3GAL3 causes MCT12 and EIEE15; Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)","Small leucine rich repeat proteoglycans"
"446",5.40796135733897e-157,1.06174222947615,0.985,0.477,1.24794116281954e-152,"16","LMNA","lamin A/C","","","The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]","Meiotic synapsis; Clearance of Nuclear Envelope Membranes from Chromatin; Initiation of Nuclear Envelope Reformation; Breakdown of the nuclear lamina; XBP1(S) activates chaperone genes; Depolymerisation of the Nuclear Lamina; Signaling by BRAF and RAF fusions; Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models","Lamins"
"447",1.59362153599204e-154,1.12578463681043,1,0.784,3.67744105645524e-150,"16","VIM","vimentin","","","This gene encodes a type III intermediate filament protein. Intermediate filaments, along with microtubules and actin microfilaments, make up the cytoskeleton. The encoded protein is responsible for maintaining cell shape and integrity of the cytoplasm, and stabilizing cytoskeletal interactions. This protein is involved in neuritogenesis and cholesterol transport and functions as an organizer of a number of other critical proteins involved in cell attachment, migration, and signaling. Bacterial and viral pathogens have been shown to attach to this protein on the host cell surface. Mutations in this gene are associated with congenital cataracts in human patients. [provided by RefSeq, Aug 2017]","Caspase-mediated cleavage of cytoskeletal proteins; Striated Muscle Contraction; Interleukin-4 and Interleukin-13 signaling","Intermediate filaments Type III"
"448",2.2198837535646e-154,0.977654852361077,0.994,0.408,5.12260374972568e-150,"16","KRT18","keratin 18","16, 18, 4","","KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]","Keratinization; Formation of the cornified envelope","Keratins, type I"
"449",6.48959824303535e-150,1.00928957413703,0.997,0.6,1.49753969056284e-145,"16","SERPINH1","serpin family H member 1","","","This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]","Collagen biosynthesis and modifying enzymes; Regulation of HSF1-mediated heat shock response; HSF1 activation; Attenuation phase; HSF1-dependent transactivation","Serpin peptidase inhibitors"
"450",4.61345974125477e-138,0.955854799780359,1,0.838,1.06460196989195e-133,"16","IFITM3","interferon induced transmembrane protein 3","","","The protein encoded by this gene is an interferon-induced membrane protein that helps confer immunity to influenza A H1N1 virus, West Nile virus, and dengue virus. Two transcript variants, only one of them protein-coding, have been found for this gene. Another variant encoding an N-terminally truncated isoform has been reported, but the full-length nature of this variant has not been determined. [provided by RefSeq, May 2012]","Interferon alpha/beta signaling","Interferon induced transmembrane proteins"
"451",0,2.26682837957471,1,0.136,0,"17","HBB","hemoglobin subunit beta","17, 21, 5","erythrocyte, megakaryocyte, neutrophil granulocyte","The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Scavenging of heme from plasma; Neutrophil degranulation; Factors involved in megakaryocyte development and platelet production","Hemoglobin subunits"
"452",0,1.54675131316385,0.658,0.018,0,"17","TMCC2","transmembrane and coiled-coil domain family 2","","","Not available","","Transmembrane and coiled-coil domain containing"
"453",0,1.05984424550522,0.868,0.101,0,"17","EPB42","erythrocyte membrane protein band 4.2","","erythrocyte","Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","","Transglutaminases"
"454",0,0.846090822460404,0.745,0.059,0,"17","TRIM58","tripartite motif containing 58","17, 5","","Not available","","Ring finger proteins|Tripartite motif containing"
"455",0,0.758797999892211,0.654,0.052,0,"17","SPTA1","spectrin alpha, erythrocytic 1","","erythrocyte","This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]","NCAM signaling for neurite out-growth; NCAM signaling for neurite out-growth; Interaction between L1 and Ankyrins; Interaction between L1 and Ankyrins; RAF/MAP kinase cascade; COPI-mediated anterograde transport","EF-hand domain containing|Spectrins"
"456",0,0.750988418518798,0.593,0.005,0,"17","TSPO2","translocator protein 2","","","Not available","",""
"457",0,0.650159884424544,0.621,0.047,0,"17","RHCE","Rh blood group CcEe antigens","","erythrocyte","The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Aug 2016]","","Blood group antigens|CD molecules"
"458",0,0.641988485870294,0.646,0.053,0,"17","PHOSPHO1","phosphoethanolamine/phosphocholine phosphatase","17, 5","","Not available","Synthesis of PC; Synthesis of PE","HAD Asp-based non-protein phosphatases"
"459",3.6030768483428e-292,1.49580265412752,0.955,0.163,8.31446013523585e-288,"17","SLC4A1","solute carrier family 4 member 1 (Diego blood group)","17, 22, 3","erythrocyte","The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Bicarbonate transporters; Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4),  distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)","Blood group antigens|CD molecules|Solute carriers"
"460",9.81899318354174e-267,0.883071913100821,0.819,0.113,2.26583086703409e-262,"17","KLF1","Kruppel like factor 1","14, 17, 22, 3","erythrocyte","This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]","","Zinc fingers C2H2-type|Kruppel like factors"
"461",9.2589286505683e-261,1.31399024523484,0.992,0.18,2.13659037540514e-256,"17","DONSON","downstream neighbor of SON","14, 17, 21, 5","","This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008]","",""
"462",5.97109768352362e-242,2.01885732571047,0.988,0.242,1.37789050144991e-237,"17","ALAS2","5'-aminolevulinate synthase 2","17, 21, 22, 3, 5","erythrocyte","The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]","Heme biosynthesis",""
"463",6.01700127200334e-219,0.674513878214414,0.72,0.104,1.38848321352749e-214,"17","DMTN","dematin actin binding protein","","erythrocyte","The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]","Miscellaneous transport and binding events",""
"464",5.00083909284202e-214,1.52300572101868,0.905,0.191,1.15399362906423e-209,"17","HEMGN","hemogen","14, 17, 22, 3, 5","","Not available","",""
"465",3.47316747210748e-200,0.857284611023022,0.687,0.103,8.01468125863523e-196,"17","RHAG","Rh associated glycoprotein","17, 3","erythrocyte","The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Rhesus glycoproteins mediate ammonium transport.; Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN)","Blood group antigens|CD molecules|Solute carriers"
"466",1.58636866808795e-197,1.92841317109683,0.963,0.255,3.66070433847975e-193,"17","GYPA","glycophorin A (MNS blood group)","17, 22, 3, 5","erythrocyte","Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. In addition to the M or N and S or s antigens that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008]","Cell surface interactions at the vascular wall","Blood group antigens|CD molecules"
"467",1.74261797621043e-191,1.46593284601564,0.951,0.244,4.02126524190318e-187,"17","BPGM","bisphosphoglycerate mutase","14, 17, 21, 5","erythrocyte","2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]","Glycolysis","Phosphoglycerate mutases|Bisphosphoglycerate phosphatases"
"468",7.85142592001856e-185,3.00747755059722,0.967,0.317,1.81179504530348e-180,"17","HBM","hemoglobin subunit mu","17, 22, 3, 5","","The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. This gene has an ORF encoding a 141 aa polypeptide which is similar to the delta globins found in reptiles and birds. This locus was originally described as a pseudogene; however, it is currently thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]","","Hemoglobin subunits"
"469",8.32669195348397e-182,1.17515972369367,0.864,0.22,1.92146743518596e-177,"17","SELENBP1","selenium binding protein 1","17, 22, 3, 5","","This gene encodes a member of the selenium-binding protein family. Selenium is an essential nutrient that exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. The effects of selenium in preventing cancer and neurologic diseases may be mediated by selenium-binding proteins, and decreased expression of this gene may be associated with several types of cancer. The encoded protein may play a selenium-dependent role in ubiquitination/deubiquitination-mediated protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]","",""
"470",5.53233146522431e-181,0.884555145471501,0.716,0.125,1.27664080891516e-176,"17","RFESD","Rieske Fe-S domain containing","17, 3","","Not available","",""
"471",7.32278893748081e-175,1.23176260997872,0.909,0.273,1.68980677521307e-170,"17","FECH","ferrochelatase","17, 5","","The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010]","Heme biosynthesis",""
"472",3.54512455371262e-171,1.26007833910563,1,0.341,8.18072942014725e-167,"17","AC104389.1","AC104389.1","14, 17, 21, 5","","AC104389.1","AC104389.1","AC104389.1"
"473",5.30244324020591e-169,1.43593626143546,0.947,0.312,1.22359180210991e-164,"17","HMBS","hydroxymethylbilane synthase","14, 17, 22, 3","","This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]","Heme biosynthesis",""
"474",2.0019240258317e-165,0.907279039260542,0.909,0.204,4.61963988200922e-161,"17","HBQ1","hemoglobin subunit theta 1","14, 17, 21, 22, 3, 5","erythrocyte","Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue. [provided by RefSeq, Jul 2008]","","Hemoglobin subunits"
"475",2.75495553082176e-165,1.63434612858533,1,0.408,6.35733538292428e-161,"17","SNCA","synuclein alpha","17, 21, 5","","Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Alternatively spliced transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2016]","Amyloid fiber formation","Parkinson disease associated genes"
"476",1.35116191443147e-157,2.41184101357831,0.984,0.412,3.11794123374206e-153,"17","AHSP","alpha hemoglobin stabilizing protein","17, 21, 22, 3, 5","","This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]","",""
"477",3.05142015768485e-150,1.86655423670282,0.996,0.578,7.04145715587356e-146,"17","SLC25A37","solute carrier family 25 member 37","14, 17, 21, 22, 3, 5","","SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011]","Mitochondrial iron-sulfur cluster biogenesis","Solute carriers"
"478",4.103713644734e-146,0.829426550854456,0.914,0.256,9.46972960658817e-142,"17","FAM210B","family with sequence similarity 210 member B","14, 17, 21, 22, 3, 5","","Not available","",""
"479",1.88534196943398e-139,2.34986955261344,1,0.859,4.35061512866584e-135,"17","HBG2","hemoglobin subunit gamma 2","14, 17, 21, 22, 3, 5","megakaryocyte","The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]","Factors involved in megakaryocyte development and platelet production","Hemoglobin subunits"
"480",5.45447724178593e-139,0.720340458482957,0.658,0.137,1.25867516831452e-134,"17","CPOX","coproporphyrinogen oxidase","","progenitor","The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]","Heme biosynthesis",""
"481",1.65708346251579e-129,1.02680059711431,0.889,0.297,3.82388579810144e-125,"17","PIM1","Pim-1 proto-oncogene, serine/threonine kinase","","lymphoid, myeloid","The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is expressed primarily in B-lymphoid and myeloid cell lines, and is overexpressed in hematopoietic malignancies and in prostate cancer. It plays a role in signal transduction in blood cells, contributing to both cell proliferation and survival, and thus provides a selective advantage in tumorigenesis. Both the human and orthologous mouse genes have been reported to encode two isoforms (with preferential cellular localization) resulting from the use of alternative in-frame translation initiation codons, the upstream non-AUG (CUG) and downstream AUG codons (PMIDs:16186805, 1825810).[provided by RefSeq, Aug 2011]","Interleukin-4 and Interleukin-13 signaling",""
"482",8.72312360814889e-128,1.20278082601448,0.835,0.263,2.01294800381644e-123,"17","MYL4","myosin light chain 4","17, 22, 3","","Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]","Striated Muscle Contraction","Myosin light chains|EF-hand domain containing"
"483",4.77086247208179e-127,1.1156867150368,0.988,0.591,1.10092422405759e-122,"17","SLC25A39","solute carrier family 25 member 39","17, 21, 22, 3, 5","","This gene encodes a member of the SLC25 transporter or mitochondrial carrier family of proteins. Members of this family are encoded by the nuclear genome while their protein products are usually embedded in the inner mitochondrial membrane and exhibit wide-ranging substrate specificity. Although the encoded protein is currently considered an orphan transporter, this protein is related to other carriers known to transport amino acids. This protein may play a role in iron homeostasis. [provided by RefSeq, Mar 2016]","","Solute carriers"
"484",9.90562581900673e-124,1.69806900927013,1,0.57,2.28582221399399e-119,"17","HBG1","hemoglobin subunit gamma 1","17, 21, 22, 3, 5","megakaryocyte","The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]","Factors involved in megakaryocyte development and platelet production","Hemoglobin subunits"
"485",2.55854722633588e-122,1.96973049975742,1,0.838,5.90410357949267e-118,"17","HBA1","hemoglobin subunit alpha 1","14, 17, 21, 22, 3, 5","erythrocyte","The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Scavenging of heme from plasma","Hemoglobin subunits"
"486",7.48151198904318e-122,1.03165076850465,0.926,0.289,1.72643370659161e-117,"17","GYPB","glycophorin B (MNS blood group)","17, 22, 3","erythrocyte","Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. GYPB gene consists of 5 exons and has 97% sequence homology with GYPA from the 5' UTR to the coding sequence encoding the first 45 amino acids. In addition to the M or N and S or s antigens, that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta; also, Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]","Cell surface interactions at the vascular wall","Blood group antigens|CD molecules"
"487",6.32762237090604e-121,1.9880056276042,1,0.863,1.46016213831028e-116,"17","HBA2","hemoglobin subunit alpha 2","14, 17, 21, 22, 3, 5","erythrocyte","The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Scavenging of heme from plasma","Hemoglobin subunits"
"488",1.56485008903143e-118,0.788381282936192,0.864,0.299,3.61104806544892e-114,"17","STRADB","STE20-related kinase adaptor beta","17, 21, 3, 5","","This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]","Energy dependent regulation of mTOR by LKB1-AMPK",""
"489",4.9219928941785e-113,1.49113913581479,0.901,0.389,1.13579908026063e-108,"17","ARL4A","ADP ribosylation factor like GTPase 4A","","","ADP-ribosylation factor-like 4A is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4A is similar to ARL4C and ARL4D and each has a nuclear localization signal and an unusually high guaninine nucleotide exchange rate. ARL4A is located in both the nuclear and extranuclear cell compartments. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]","","ARF GTPase family"
"490",1.95286199646486e-107,1.00636435516069,0.864,0.373,4.50642434304232e-103,"17","CAT","catalase","","neutrophil granulocyte","This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]","Detoxification of Reactive Oxygen Species; Neutrophil degranulation; Peroxisomal protein import; Peroxisomal protein import",""
"491",3.17295690798818e-102,0.6847637570832,0.852,0.317,7.32191536087353e-98,"17","CCNDBP1","cyclin D1 binding protein 1","17, 5","","This gene was identified by the interaction of its gene product with Grap2, a leukocyte-specific adaptor protein important for immune cell signaling. The protein encoded by this gene was shown to interact with cyclin D. Transfection of this gene in cells was reported to reduce the phosphorylation of Rb gene product by cyclin D-dependent protein kinase, and inhibit E2F1-mediated transcription activity. This protein was also found to interact with helix-loop-helix protein E12 and is thought to be a negative regulator of liver-specific gene expression. Several alternatively spliced variants have been found for this gene. [provided by RefSeq, Apr 2009]","",""
"492",1.43236825329992e-85,0.855245122393593,0.992,0.832,3.30533298131488e-81,"17","BSG","basigin (Ok blood group)","","","The protein encoded by this gene is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. The encoded protein is also a member of the immunoglobulin superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","Degradation of the extracellular matrix; Basigin interactions; Integrin cell surface interactions; Proton-coupled monocarboxylate transport; Pyruvate metabolism","Blood group antigens|CD molecules|I-set domain containing|Immunoglobulin like domain containing"
"493",8.53428318425552e-82,0.708216671155667,0.889,0.452,1.9693711875988e-77,"17","FBXO7","F-box protein 7","17, 5","","This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008]","Neddylation; Antigen processing: Ubiquitination & Proteasome degradation","F-boxes other|Parkinson disease associated genes"
"494",2.00399529108135e-80,0.851679446834912,0.963,0.604,4.62441953369932e-76,"17","NCOA4","nuclear receptor coactivator 4","17, 5","","This gene encodes an androgen receptor coactivator. The encoded protein interacts with the androgen receptor in a ligand-dependent manner to enhance its transcriptional activity. Chromosomal translocations between this gene and the ret tyrosine kinase gene, also located on chromosome 10, have been associated with papillary thyroid carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes are present on chromosomes 4, 5, 10, and 14. [provided by RefSeq, Feb 2009]","",""
"495",2.39708700670925e-65,0.831478347405462,0.934,0.619,5.53151797668227e-61,"17","BNIP3L","BCL2 interacting protein 3 like","17, 21, 5","","This gene encodes a protein that belongs to the pro-apoptotic subfamily within the Bcl-2 family of proteins. The encoded protein binds to Bcl-2 and possesses the BH3 domain. The protein directly targets mitochondria and causes apoptotic changes, including loss of membrane potential and the release of cytochrome c. [provided by RefSeq, Feb 2015]","TP53 Regulates Transcription of Genes Involved in Cytochrome C Release",""
"496",1.4199777516186e-58,0.649403466978819,0.733,0.317,3.27674065963509e-54,"17","OAT","ornithine aminotransferase","","","This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010]","Amino acid synthesis and interconversion (transamination)",""
"497",9.65301582359049e-58,1.15915856169383,0.947,0.871,2.22752993145174e-53,"17","PRDX2","peroxiredoxin 2","14, 17, 22, 3","","This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein plays an antioxidant protective role in cells, and it may contribute to the antiviral activity of CD8(+) T-cells. The crystal structure of this protein has been resolved to 2.7 angstroms. This protein prevents hemolytic anemia from oxidative stress by stabilizing hemoglobin, thus making this gene a therapeutic target for patients with hemolytic anemia. This protein may have a proliferative effect and play a role in cancer development or progression. Related pseudogenes have been identified on chromosomes 5, 6, 10 and 13. [provided by RefSeq, Mar 2013]","Detoxification of Reactive Oxygen Species; TP53 Regulates Metabolic Genes; Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models","Peroxiredoxins"
"498",8.59218652188827e-54,0.641013924938544,0.992,0.883,1.98273296179094e-49,"17","BLVRB","biliverdin reductase B","17, 22, 3","","The final step in heme metabolism in mammals is catalyzed by the cytosolic biliverdin reductase enzymes A and B (EC 1.3.1.24).[supplied by OMIM, Jul 2009]","Heme degradation","Short chain dehydrogenase/reductase superfamily"
"499",2.77487725862071e-45,0.740507137000337,0.79,0.482,6.40330676199315e-41,"17","UROD","uroporphyrinogen decarboxylase","17, 22, 3","","This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]","Heme biosynthesis",""
"500",5.18245506206366e-25,0.694291858598906,0.638,0.388,1.19590333012181e-20,"17","H1F0","H1 histone family member 0","","","Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-independent histone that is a member of the histone H1 family. [provided by RefSeq, Oct 2015]","Activation of DNA fragmentation factor; Formation of Senescence-Associated Heterochromatin Foci (SAHF)","Histones"
"501",0,2.4366673808575,0.624,0.044,0,"18","NPY","neuropeptide Y","","","This gene encodes a neuropeptide that is widely expressed in the central nervous system and influences many physiological processes, including cortical excitability, stress response, food intake, circadian rhythms, and cardiovascular function. The neuropeptide functions through G protein-coupled receptors to inhibit adenylyl cyclase, activate mitogen-activated protein kinase (MAPK), regulate intracellular calcium levels, and activate potassium channels. A polymorphism in this gene resulting in a change of leucine 7 to proline in the signal peptide is associated with elevated cholesterol levels, higher alcohol consumption, and may be a risk factor for various metabolic and cardiovascular diseases. The protein also exhibits antimicrobial activity against bacteria and fungi. [provided by RefSeq, Oct 2014]","Peptide ligand-binding receptors; G alpha (i) signalling events","Endogenous ligands"
"502",0,1.83622779719419,0.64,0.026,0,"18","STMN2","stathmin 2","","","This gene encodes a member of the stathmin family of phosphoproteins. Stathmin proteins function in microtubule dynamics and signal transduction. The encoded protein plays a regulatory role in neuronal growth and is also thought to be involved in osteogenesis. Reductions in the expression of this gene have been associated with Down's syndrome and Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Nov 2010]","","Stathmins"
"503",0,1.81335895974915,0.632,0.022,0,"18","SLC5A12","solute carrier family 5 member 12","","","Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 in the initial part of the proximal tubule and by the high-affinity Na(+)-coupled lactate transporter SLC5A8 (MIM 608044) in the distal proximal tubule (Gopal et al., 2007 [PubMed 17692818]).[supplied by OMIM, Dec 2008]","Multifunctional anion exchangers","Solute carriers"
"504",0,1.34192667603895,0.723,0.049,0,"18","CLDN15","claudin 15","","endothelial cells","This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010]","Tight junction interactions","Claudins"
"505",8.73106413887596e-284,1.32984559458925,0.798,0.104,2.01478036068702e-279,"18","C19orf33","chromosome 19 open reading frame 33","13, 18","fibroblasts","The protein encoded by this gene has been shown to be upregulated in SV40-immortalized fibroblasts as well as in endometrial carcinoma cells. The encoded protein is found primarily in the nucleus. This protein may play a role in placental development and diseases such as pre-eclampsia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]","",""
"506",6.97478753037668e-264,1.21198267917006,0.851,0.134,1.60950197050972e-259,"18","PERP","PERP, TP53 apoptosis effector","","","Not available","TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain; Formation of the cornified envelope",""
"507",2.79137798353398e-262,1.42820890947133,0.55,0.048,6.44138383480302e-258,"18","AGTR1","angiotensin II receptor type 1","","","Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Multiple alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Jul 2012]","Peptide ligand-binding receptors; G alpha (q) signalling events; Cargo recognition for clathrin-mediated endocytosis; Clathrin-mediated endocytosis","Angiotensin receptors"
"508",9.36533648759647e-257,1.19956212534799,0.467,0.034,2.16114504787776e-252,"18","SLPI","secretory leukocyte peptidase inhibitor","","neutrophil granulocyte","This gene encodes a secreted inhibitor which protects epithelial tissues from serine proteases. It is found in various secretions including seminal plasma, cervical mucus, and bronchial secretions, and has affinity for trypsin, leukocyte elastase, and cathepsin G. Its inhibitory effect contributes to the immune response by protecting epithelial surfaces from attack by endogenous proteolytic enzymes. This antimicrobial protein has antibacterial, antifungal and antiviral activity. [provided by RefSeq, Nov 2014]","Neutrophil degranulation","WAP four-disulfide core domain containing"
"509",1.41637650961698e-255,1.25263735298441,0.678,0.078,3.26843043359214e-251,"18","CLIC3","chloride intracellular channel 3","18, 20","","Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 3 is a member of the p64 family and is predominantly localized in the nucleus and stimulates chloride ion channel activity. In addition, this protein may participate in cellular growth control, based on its association with ERK7, a member of the MAP kinase family. [provided by RefSeq, Jul 2008]","","Chloride intracellular channels"
"510",3.50051395799571e-247,1.17908232613469,0.698,0.086,8.07778600947089e-243,"18","PDPN","podoplanin","16, 18","","This gene encodes a type-I integral membrane glycoprotein with diverse distribution in human tissues. The physiological function of this protein may be related to its mucin-type character. The homologous protein in other species has been described as a differentiation antigen and influenza-virus receptor. The specific function of this protein has not been determined but it has been proposed as a marker of lung injury. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]","GPVI-mediated activation cascade",""
"511",7.70759230189476e-233,1.19400633568865,0.74,0.101,1.77860399958524e-228,"18","EFNA1","ephrin A1","","","This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin which binds to the EPHA2, EPHA4, EPHA5, EPHA6, and EPHA7 receptors. Two transcript variants that encode different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]","EPH-Ephrin signaling; EPH-Ephrin signaling; EPHA-mediated growth cone collapse; EPHA-mediated growth cone collapse; EPH-ephrin mediated repulsion of cells; EPH-ephrin mediated repulsion of cells","Ephrins"
"512",1.36378742552529e-208,2.19427258774321,0.926,0.228,3.14707586314216e-204,"18","KRT19","keratin 19","16, 18, 20","","The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically expressed in the periderm, the transiently superficial layer that envelopes the developing epidermis. The type I cytokeratins are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2008]","Keratinization; Formation of the cornified envelope","Keratins, type I"
"513",3.67329479996937e-193,1.42485946854495,0.541,0.066,8.47649508040932e-189,"18","NNMT","nicotinamide N-methyltransferase","","","N-methylation is one method by which drug and other xenobiotic compounds are metabolized by the liver. This gene encodes the protein responsible for this enzymatic activity which uses S-adenosyl methionine as the methyl donor. [provided by RefSeq, Jul 2008]","Methylation; Nicotinamide salvaging; Metabolism of ingested SeMet, Sec, MeSec into H2Se","Seven-beta-strand methyltransferase motif containing"
"514",3.35260924192306e-173,2.01032178714132,0.785,0.171,7.73648108666165e-169,"18","CKB","creatine kinase B","","","The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq, Jul 2008]","Creatine metabolism",""
"515",1.05864533245469e-155,1.13586323725298,0.702,0.139,2.44292996917245e-151,"18","AQP1","aquaporin 1 (Colton blood group)","","erythrocyte","This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Vasopressin regulates renal water homeostasis via Aquaporins; Passive transport by Aquaporins","Aquaporins|Blood group antigens"
"516",2.35272154871637e-154,1.75264514785888,0.988,0.388,5.4291402458179e-150,"18","KRT8","keratin 8","16, 18, 20, 4","","This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]","Keratinization; Formation of the cornified envelope","Keratins, type II"
"517",1.99733130840455e-151,1.23827003887396,0.814,0.206,4.60904172727435e-147,"18","TMEM98","transmembrane protein 98","16, 18","","This gene encodes a transmembrane protein. A missense mutation in this gene result in Nanophthalmos 4 (NNO4). Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2014]","",""
"518",8.21423103832659e-146,1.93426582444919,0.992,0.489,1.89551595440424e-141,"18","S100A10","S100 calcium binding protein A10","15, 16, 18, 4","","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in exocytosis and endocytosis. [provided by RefSeq, Jul 2008]","Dissolution of Fibrin Clot","S100 calcium binding proteins"
"519",5.36063511591911e-145,1.79673611174337,0.988,0.412,1.23702015934949e-140,"18","KRT18","keratin 18","16, 18, 4","","KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]","Keratinization; Formation of the cornified envelope","Keratins, type I"
"520",9.65026473165938e-145,1.25629642665209,0.665,0.129,2.22689508947772e-140,"18","HAND1","heart and neural crest derivatives expressed 1","18, 4","","The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]","","Basic helix-loop-helix proteins"
"521",3.0596099634575e-139,1.2467518518457,0.748,0.191,7.06035595167453e-135,"18","SERPINB9","serpin family B member 9","","","This gene encodes a member of the serine protease inhibitor family which are also known as serpins. The encoded protein belongs to a subfamily of intracellular serpins. This protein inhibits the activity of the effector molecule granzyme B. Overexpression of this protein may prevent cytotoxic T-lymphocytes from eliminating certain tumor cells. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2012]","","Serpin peptidase inhibitors"
"522",1.94307633090916e-131,1.57249095177865,0.934,0.386,4.48384294120598e-127,"18","SLC2A1","solute carrier family 2 member 1","14, 18, 6","","This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]","Cellular hexose transport; Vitamin C (ascorbate) metabolism; Regulation of insulin secretion; Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1); Lactose synthesis","Solute carriers"
"523",1.6316842813382e-120,1.09778397366263,0.826,0.237,3.76527464761602e-116,"18","NDRG1","N-myc downstream regulated 1","","","This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]","TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain",""
"524",7.27352016096141e-120,1.10077989203811,0.624,0.132,1.67843751234345e-115,"18","CD24","CD24 molecule","11, 18","b cell, progenitor","This gene encodes a sialoglycoprotein that is expressed on mature granulocytes and B cells and modulates growth and differentiation signals to these cells. The precursor protein is cleaved to a short 32 amino acid mature peptide which is anchored via a glycosyl phosphatidylinositol (GPI) link to the cell surface. This gene was missing from previous genome assemblies, but is properly located on chromosome 6. Non-transcribed pseudogenes have been designated on chromosomes 1, 15, 20, and Y. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]","L1CAM interactions","CD molecules"
"525",3.95519455643833e-114,1.09004038821856,0.888,0.306,9.12700695843708e-110,"18","CDKN1C","cyclin dependent kinase inhibitor 1C","18, 6","","This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]","Cyclin D associated events in G1",""
"526",2.42056951497507e-110,1.31120488336185,0.802,0.262,5.58570621275648e-106,"18","ID1","inhibitor of DNA binding 1, HLH protein","","","The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors. The encoded protein has no DNA binding activity and therefore can inhibit the DNA binding and transcriptional activation ability of basic HLH proteins with which it interacts. This protein may play a role in cell growth, senescence, and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","Oncogene Induced Senescence","Basic helix-loop-helix proteins"
"527",1.10304124840213e-108,1.19690063500493,0.81,0.257,2.54537798481276e-104,"18","TMEM88","transmembrane protein 88","16, 18, 4","","Not available","",""
"528",7.60237297203229e-108,1.04013497443126,0.93,0.486,1.75432358702617e-103,"18","SPINT2","serine peptidase inhibitor, Kunitz type 2","","hepatocyte","This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]","MET Receptor Activation; Signaling by MST1",""
"529",4.07626534789088e-107,1.26305469710254,0.86,0.285,9.40638991679299e-103,"18","GPC3","glypican 3","18, 4, 8","","Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]","A tetrasaccharide linker sequence is required for GAG synthesis; HS-GAG biosynthesis; HS-GAG biosynthesis; HS-GAG degradation; Defective B4GALT7 causes EDS, progeroid type; Defective B3GAT3 causes JDSSDHD; Defective EXT2 causes exostoses 2; Defective EXT1 causes exostoses 1, TRPS2 and CHDS; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Defective B3GALT6 causes EDSP2 and SEMDJL1; Post-translational protein phosphorylation; Retinoid metabolism and transport","Glypicans"
"530",1.39639093523208e-103,1.37169872633576,0.901,0.49,3.22231172214155e-99,"18","EZR","ezrin","","","The cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member of the ERM protein family, this protein serves as an intermediate between the plasma membrane and the actin cytoskeleton. This protein plays a key role in cell surface structure adhesion, migration and organization, and it has been implicated in various human cancers. A pseudogene located on chromosome 3 has been identified for this gene. Alternatively spliced variants have also been described for this gene. [provided by RefSeq, Jul 2008]","Netrin-1 signaling; Recycling pathway of L1; Recycling pathway of L1","A-kinase anchoring proteins|FERM domain containing"
"531",5.35704845703179e-100,1.80622866230929,0.388,0.059,1.23619250194466e-95,"18","PTGDS","prostaglandin D2 synthase","","megakaryocyte","The protein encoded by this gene is a glutathione-independent prostaglandin D synthase that catalyzes the conversion of prostaglandin H2 (PGH2) to postaglandin D2 (PGD2). PGD2 functions as a neuromodulator as well as a trophic factor in the central nervous system. PGD2 is also involved in smooth muscle contraction/relaxation and is a potent inhibitor of platelet aggregation. This gene is preferentially expressed in brain. Studies with transgenic mice overexpressing this gene suggest that this gene may be also involved in the regulation of non-rapid eye movement sleep. [provided by RefSeq, Jul 2008]","Synthesis of Prostaglandins (PG) and Thromboxanes (TX)","Lipocalins"
"532",6.02138496402299e-97,1.68941319146405,0.872,0.37,1.38949479429794e-92,"18","FRZB","frizzled related protein","18, 4, 6","","The protein encoded by this gene is a secreted protein that is involved in the regulation of bone development. Defects in this gene are a cause of female-specific osteoarthritis (OA) susceptibility. [provided by RefSeq, Apr 2010]","","Secreted frizzled-related proteins"
"533",2.0908494617881e-95,1.17966516265945,0.938,0.554,4.82484421802222e-91,"18","LY6E","lymphocyte antigen 6 family member E","","","Not available","Post-translational modification: synthesis of GPI-anchored proteins","LY6/PLAUR domain containing"
"534",5.02579977753063e-94,1.10120879212539,0.979,0.793,1.15975355666297e-89,"18","ZFAS1","ZNFX1 antisense RNA 1","","","This gene represents a snoRNA host gene that produces a non-coding RNA. Increased expression or amplification of this locus is associated with cancer progression and metastasis. This transcript regulates expression of genes involved in differentiation. It may act a molecular sponge for microRNAs. Alternatively spliced transcript variants have been observed. [provided by RefSeq, Dec 2017]","","Long non-coding RNAs (published)"
"535",5.65697729670904e-90,1.04025047913606,0.975,0.452,1.30540408098858e-85,"18","IGF2","insulin like growth factor 2","18, 4, 6","megakaryocyte","This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]","Platelet degranulation ; Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R); IRS-related events triggered by IGF1R; SHC-related events triggered by IGF1R; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)",""
"536",3.75457071867516e-74,1.11547034416737,0.579,0.166,8.6640473904148e-70,"18","MTRNR2L12","MT-RNR2 like 12","18, 21","","Not available","",""
"537",1.25940874561165e-69,1.31730648928578,0.893,0.441,2.90621162137343e-65,"18","APOE","apolipoprotein E","18, 8","","The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]","Scavenging by Class A Receptors; Scavenging by Class A Receptors; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors; Post-translational protein phosphorylation; Chylomicron assembly; Chylomicron remodeling; Chylomicron clearance; Chylomicron clearance; HDL remodeling; Retinoid metabolism and transport; Retinoid metabolism and transport","Apolipoproteins"
"538",3.76767082180533e-68,1.0433625816553,0.781,0.421,8.69427718839798e-64,"18","LEPROTL1","leptin receptor overlapping transcript like 1","","","Not available","",""
"539",1.67435605054026e-67,1.1284339796712,0.917,0.693,3.8637440222267e-63,"18","SARAF","store-operated calcium entry associated regulatory factor","","","Not available","",""
"540",7.48966245582321e-66,1.30190186928468,0.694,0.335,1.72831450830576e-61,"18","SLC7A7","solute carrier family 7 member 7","","","The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]","Basigin interactions; Amino acid transport across the plasma membrane; Defective SLC7A7 causes lysinuric protein intolerance (LPI)","Solute carriers"
"541",8.67981653990349e-61,1.48131832608459,0.798,0.519,2.00295446474813e-56,"18","SLC16A3","solute carrier family 16 member 3","","","Lactic acid and pyruvate transport across plasma membranes is catalyzed by members of the proton-linked monocarboxylate transporter (MCT) family, which has been designated solute carrier family-16. Each MCT appears to have slightly different substrate and inhibitor specificities and transport kinetics, which are related to the metabolic requirements of the tissues in which it is found. The MCTs, which include MCT1 (SLC16A1; MIM 600682) and MCT2 (SLC16A7; MIM 603654), are characterized by 12 predicted transmembrane domains (Price et al., 1998 [PubMed 9425115]).[supplied by OMIM, Mar 2008]","Basigin interactions; Proton-coupled monocarboxylate transport; Pyruvate metabolism","Solute carriers"
"542",2.83000187730657e-50,1.228739132685,0.752,0.384,6.53051233207264e-46,"18","VTN","vitronectin","18, 8","","The protein encoded by this gene is a member of the pexin family. It is found in serum and tissues and promotes cell adhesion and spreading, inhibits the membrane-damaging effect of the terminal cytolytic complement pathway, and binds to several serpin serine protease inhibitors. It is a secreted protein and exists in either a single chain form or a clipped, two chain form held together by a disulfide bond. [provided by RefSeq, Jul 2008]","Molecules associated with elastic fibres; Integrin cell surface interactions; Syndecan interactions; ECM proteoglycans; ECM proteoglycans; Regulation of Complement cascade","Endogenous ligands|Complement system regulators and receptors"
"543",1.06323107633345e-40,2.75173291052442,0.698,0.321,2.45351203174708e-36,"18","ALB","albumin","18, 8","megakaryocyte","This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additionally, this protein exhibits an esterase-like activity with broad substrate specificity. The encoded preproprotein is proteolytically processed to generate the mature protein. A peptide derived from this protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine receptor. [provided by RefSeq, Jul 2016]","Platelet degranulation ; Recycling of bile acids and salts; Scavenging of heme from plasma; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR); Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR); Transport of organic anions; Post-translational protein phosphorylation; HDL remodeling",""
"544",2.98181050552944e-39,1.09891204551931,0.851,0.537,6.88082592255972e-35,"18","MT-ND4L","mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L","","","Not available","","NADH:ubiquinone oxidoreductase core subunits"
"545",1.17500932942424e-36,1.324543833449,0.979,0.547,2.71145152857937e-32,"18","AFP","alpha fetoprotein","18, 8","","This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Jul 2008]","Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Post-translational protein phosphorylation",""
"546",6.52261341437852e-33,2.13998570358406,0.694,0.333,1.50515827150199e-28,"18","SPINK1","serine peptidase inhibitor, Kazal type 1","18, 8","gastric gland zymogenic cell, pancreatic acinar cell","The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008]","","Serine peptidase inhibitors, Kazal type"
"547",1.35736470095061e-30,1.52711097161499,0.963,0.566,3.13225478391364e-26,"18","APOA1","apolipoprotein A1","18, 8","megakaryocyte","This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]","Platelet degranulation ; ABC transporters in lipid homeostasis; PPARA activates gene expression; Scavenging of heme from plasma; Scavenging by Class B Receptors; Scavenging by Class B Receptors; Scavenging by Class A Receptors; Scavenging by Class A Receptors; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Post-translational protein phosphorylation; Chylomicron assembly; HDL assembly; Chylomicron remodeling; HDL clearance; HDL remodeling; Retinoid metabolism and transport; Retinoid metabolism and transport; Amyloid fiber formation","Apolipoproteins"
"548",2.43512378124584e-23,1.24085147334398,0.574,0.291,5.6192916376029e-19,"18","FGB","fibrinogen beta chain","18, 8","megakaryocyte","The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]","Platelet degranulation ; Common Pathway of Fibrin Clot Formation; Integrin cell surface interactions; Integrin alphaIIb beta3 signaling; GRB2:SOS provides linkage to MAPK signaling for Integrins ; p130Cas linkage to MAPK signaling for integrins; MAP2K and MAPK activation; Regulation of TLR by endogenous ligand; Signaling by moderate kinase activity BRAF mutants; Signaling by high-kinase activity BRAF mutants; Signaling by RAS mutants; Signaling by BRAF and RAF fusions; Paradoxical activation of RAF signaling by kinase inactive BRAF","Endogenous ligands|Fibrinogen C domain containing"
"549",7.76642757593057e-15,1.11428673802657,0.455,0.242,1.79218082742174e-10,"18","PRAP1","proline rich acidic protein 1","18, 8","","Not available","",""
"550",8.91069500453355e-15,1.13389644670236,0.355,0.171,2.05623197924616e-10,"18","FGA","fibrinogen alpha chain","18, 8","megakaryocyte","This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016]","Platelet degranulation ; Common Pathway of Fibrin Clot Formation; Integrin cell surface interactions; Integrin alphaIIb beta3 signaling; GRB2:SOS provides linkage to MAPK signaling for Integrins ; p130Cas linkage to MAPK signaling for integrins; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); MAP2K and MAPK activation; Regulation of TLR by endogenous ligand; Signaling by moderate kinase activity BRAF mutants; Signaling by high-kinase activity BRAF mutants; Signaling by RAS mutants; Signaling by BRAF and RAF fusions; Paradoxical activation of RAF signaling by kinase inactive BRAF; Post-translational protein phosphorylation; Amyloid fiber formation","Endogenous ligands|Fibrinogen C domain containing"
"551",0,3.00098762276041,0.885,0.014,0,"19","KLRB1","killer cell lectin like receptor B1","","lymphoid","Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes of the C-type lectin superfamily, including the rodent NKRP1 family of glycoproteins, are expressed by NK cells and may be involved in the regulation of NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic of C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein is classified as a type II membrane protein because it has an external C terminus. [provided by RefSeq, Jul 2008]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell","CD molecules|Killer cell lectin like receptors|C-type lectin domain containing"
"552",0,2.80813107295805,0.77,0.005,0,"19","XCL1","X-C motif chemokine ligand 1","","","This antimicrobial gene encodes a member of the chemokine superfamily. Chemokines function in inflammatory and immunological responses, inducing leukocyte migration and activation. The encoded protein is a member of the C-chemokine subfamily, retaining only two of four cysteines conserved in other chemokines, and is thought to be specifically chemotactic for T cells. This gene and a closely related family member are located on the long arm of chromosome 1. [provided by RefSeq, Sep 2014]","Chemokine receptors bind chemokines; G alpha (q) signalling events","Chemokine ligands|Endogenous ligands"
"553",0,2.51403485860972,0.699,0.006,0,"19","XCL2","X-C motif chemokine ligand 2","","","Not available","Chemokine receptors bind chemokines; G alpha (q) signalling events","Chemokine ligands|Endogenous ligands"
"554",0,1.96844814202507,0.522,0.011,0,"19","GZMA","granzyme A","","natural killer cell","Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here is a T cell- and natural killer cell-specific serine protease that may function as a common component necessary for lysis of target cells by cytotoxic T lymphocytes and natural killer cells. [provided by RefSeq, Jul 2008]","","Granule associated serine proteases of immune defence"
"555",0,1.65381182041896,0.743,0.002,0,"19","KLRC1","killer cell lectin like receptor C1","","lymphoid","Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jan 2015]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell","CD molecules|Killer cell lectin like receptors|C-type lectin domain containing"
"556",0,1.59778389047465,0.664,0.006,0,"19","TRBC1","T cell receptor beta constant 1","","","Not available","","T cell receptor beta locus at 7q34"
"557",0,1.51528893413412,0.301,0.004,0,"19","IFNG","interferon gamma","","","This gene encodes a soluble cytokine that is a member of the type II interferon class. The encoded protein is secreted by cells of both the innate and adaptive immune systems. The active protein is a homodimer that binds to the interferon gamma receptor which triggers a cellular response to viral and microbial infections. Mutations in this gene are associated with an increased susceptibility to viral, bacterial and parasitic infections and to several autoimmune diseases. [provided by RefSeq, Dec 2015]","Interferon gamma signaling; Regulation of IFNG signaling; Regulation of IFNG signaling; RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs); Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation","Interferons"
"558",0,1.48255380578005,0.496,0.006,0,"19","KLRD1","killer cell lectin like receptor D1","","lymphoid","Natural killer (NK) cells are a distinct lineage of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes of the C-type lectin superfamily, including members of the NKG2 family, are expressed by NK cells and may be involved in the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells and is classified as a type II membrane protein because it has an external C terminus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; DAP12 interactions; DAP12 signaling; DAP12 signaling","CD molecules|Killer cell lectin like receptors|C-type lectin domain containing"
"559",0,1.18835729591467,0.575,0.01,0,"19","CD3E","CD3e molecule","","lymphoid","The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; Downstream TCR signaling; Phosphorylation of CD3 and TCR zeta chains; Translocation of ZAP-70 to Immunological synapse; Generation of second messenger molecules; PD-1 signaling","CD molecules"
"560",0,1.13560486088738,0.593,0.008,0,"19","CD96","CD96 molecule","","lymphoid","The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell","CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family"
"561",0,1.12724561146414,0.611,0.009,0,"19","TRGC1","T cell receptor gamma constant 1","","","Not available","","T cell receptor gamma locus at 7p14"
"562",0,1.12168325451049,0.584,0.004,0,"19","CD247","CD247 molecule","","lymphoid","The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","Nef and signal transduction; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; Downstream TCR signaling; Phosphorylation of CD3 and TCR zeta chains; Translocation of ZAP-70 to Immunological synapse; Generation of second messenger molecules; FCGR activation; FCGR activation; Regulation of actin dynamics for phagocytic cup formation; Role of phospholipids in phagocytosis; PD-1 signaling","CD molecules"
"563",0,1.09449541239032,0.496,0.012,0,"19","GZMM","granzyme M","","","Human natural killer (NK) cells and activated lymphocytes express and store a distinct subset of neutral serine proteases together with proteoglycans and other immune effector molecules in large cytoplasmic granules. These serine proteases are collectively termed granzymes and include 4 distinct gene products: granzyme A, granzyme B, granzyme H, and the protein encoded by this gene, granzyme M. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]","Alternative complement activation","Granule associated serine proteases of immune defence"
"564",0,1.07092925688144,0.336,0.004,0,"19","GZMK","granzyme K","","","This gene product is a member of a group of related serine proteases from the cytoplasmic granules of cytotoxic lymphocytes. Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here lacks consensus sequences for N-glycosylation present in other granzymes. [provided by RefSeq, Jul 2008]","","Granule associated serine proteases of immune defence"
"565",2.89066653054543e-300,1.74014757446305,0.513,0.017,6.67050208588663e-296,"19","TRDC","T cell receptor delta constant","","","T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]","","T cell receptor delta locus at 14q11.2"
"566",9.7167850367667e-238,1.35148942132981,0.478,0.019,2.24224531508428e-233,"19","CD3D","CD3d molecule","","b cell, lymphoid","The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined. [provided by RefSeq, Feb 2009]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; Downstream TCR signaling; Phosphorylation of CD3 and TCR zeta chains; Translocation of ZAP-70 to Immunological synapse; Generation of second messenger molecules; PD-1 signaling; Cargo recognition for clathrin-mediated endocytosis; Clathrin-mediated endocytosis","CD molecules"
"567",3.39301375481816e-237,1.89391511852562,0.717,0.048,7.82971854061838e-233,"19","CTSW","cathepsin W","","cytotoxic t cell, megakaryocyte","The protein encoded by this gene, a member of the peptidase C1 family, is a cysteine proteinase that may have a specific function in the mechanism or regulation of T-cell cytolytic activity. The encoded protein is found associated with the membrane inside the endoplasmic reticulum of natural killer and cytotoxic T-cells. Expression of this gene is up-regulated by interleukin-2. [provided by RefSeq, Jul 2008]","Platelet degranulation ","Cathepsins"
"568",3.27113462814561e-179,1.1062619445259,0.434,0.022,7.54847026790882e-175,"19","CST7","cystatin F","","","The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. This gene encodes a glycosylated cysteine protease inhibitor with a putative role in immune regulation through inhibition of a unique target in the hematopoietic system. Expression of the protein has been observed in various human cancer cell lines established from malignant tumors. [provided by RefSeq, Jul 2008]","","Cystatins, type 2"
"569",5.80902308114299e-170,1.54366135626429,0.841,0.102,1.34049016620456e-165,"19","IL2RG","interleukin 2 receptor subunit gamma","","","The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain. Mutations in this gene cause X-linked severe combined immunodeficiency (XSCID), as well as X-linked combined immunodeficiency (XCID), a less severe immunodeficiency disorder. [provided by RefSeq, Mar 2010]","Interleukin-7 signaling; Interleukin-7 signaling; RAF/MAP kinase cascade; Interleukin-4 and Interleukin-13 signaling; Interleukin-15 signaling; Interleukin-15 signaling; Interleukin-9 signaling; Interleukin-2 signaling; Interleukin-21 signaling; Interleukin receptor SHC signaling","CD molecules|Fibronectin type III domain containing|Interleukin receptors"
"570",9.08025041026897e-167,2.07083439944959,0.805,0.094,2.09535858467367e-162,"19","CD7","CD7 molecule","","b cell, lymphoid","This gene encodes a transmembrane protein which is a member of the immunoglobulin superfamily. This protein is found on thymocytes and mature T cells. It plays an essential role in T-cell interactions and also in T-cell/B-cell interaction during early lymphoid development. [provided by RefSeq, Jul 2008]","","CD molecules|V-set domain containing"
"571",4.2786281954026e-156,1.65677033666789,0.31,0.012,9.87336242371104e-152,"19","GZMB","granzyme B","","","This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016]","NOTCH2 intracellular domain regulates transcription; Activation, myristolyation of BID and translocation to mitochondria","Granule associated serine proteases of immune defence"
"572",3.38751622545347e-139,1.78637400324296,0.735,0.089,7.81703244185642e-135,"19","IFITM1","interferon induced transmembrane protein 1","","lymphoid","Not available","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; Interferon alpha/beta signaling","CD molecules|Interferon induced transmembrane proteins"
"573",2.09080615082895e-113,1.90717044438572,0.858,0.158,4.82474427365288e-109,"19","CXCR4","C-X-C motif chemokine receptor 4","","","This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]","Binding and entry of HIV virion; Signaling by ROBO receptors; Chemokine receptors bind chemokines; G alpha (i) signalling events","CD molecules|C-X-C motif chemokine receptors"
"574",1.40812101113995e-90,2.1737276398198,0.628,0.099,3.24938004530654e-86,"19","LTB","lymphotoxin beta","19, 9","lymphoid","Lymphotoxin beta is a type II membrane protein of the TNF family. It anchors lymphotoxin-alpha to the cell surface through heterotrimer formation. The predominant form on the lymphocyte surface is the lymphotoxin-alpha 1/beta 2 complex (e.g. 1 molecule alpha/2 molecules beta) and this complex is the primary ligand for the lymphotoxin-beta receptor. The minor complex is lymphotoxin-alpha 2/beta 1. LTB is an inducer of the inflammatory response system and involved in normal development of lymphoid tissue. Lymphotoxin-beta isoform b is unable to complex with lymphotoxin-alpha suggesting a function for lymphotoxin-beta which is independent of lympyhotoxin-alpha. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","TNFR2 non-canonical NF-kB pathway; TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway; TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway","Tumor necrosis factor superfamily"
"575",4.43325863431312e-88,1.25497348284784,0.549,0.072,1.0230187624541e-83,"19","AREG","amphiregulin","","astrocyte, fibroblasts, mammary gland cell milk secretion, oocyte, schwann cell","The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). The protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells, and it inhibits the growth of certain aggressive carcinoma cell lines. It also functions in mammary gland, oocyte and bone tissue development. This gene is associated with a psoriasis-like skin phenotype, and is also associated with other pathological disorders, including various types of cancers and inflammatory conditions. [provided by RefSeq, Apr 2014]","COPII-mediated vesicle transport; Cargo concentration in the ER","Endogenous ligands"
"576",1.28241822474369e-87,1.43394379261784,0.637,0.102,2.95930829541854e-83,"19","PLAC8","placenta specific 8","19, 9","neutrophil granulocyte","Not available","Neutrophil degranulation",""
"577",1.53890987662357e-84,1.59094621446834,0.947,0.291,3.55118843129655e-80,"19","CD44","CD44 molecule (Indian blood group)","15, 19","neutrophil granulocyte","The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]","Degradation of the extracellular matrix; Cell surface interactions at the vascular wall; Integrin cell surface interactions; Hyaluronan uptake and degradation; Neutrophil degranulation; Interferon gamma signaling","Blood group antigens|CD molecules|Proteoglycans"
"578",1.28590637700017e-72,1.34430425613609,0.708,0.163,2.9673575555656e-68,"19","GPR65","G protein-coupled receptor 65","","","Not available","Class A/1 (Rhodopsin-like receptors); G alpha (q) signalling events","G protein-coupled receptors, Class A orphans"
"579",1.20796632393537e-61,1.23357322961925,0.381,0.049,2.78750308911327e-57,"19","IL7R","interleukin 7 receptor","","","The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]","Interleukin-7 signaling; Interleukin-7 signaling; Cargo recognition for clathrin-mediated endocytosis; Clathrin-mediated endocytosis","CD molecules|Fibronectin type III domain containing|Interleukin receptors"
"580",2.15482052558628e-57,1.09646937231337,0.735,0.204,4.9724638448429e-53,"19","LSP1","lymphocyte specific protein 1","15, 19, 9","endothelial cells, macrophage, neutrophil granulocyte","This gene encodes an intracellular F-actin binding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","",""
"581",3.21979337268478e-57,1.08492516503243,0.602,0.138,7.42999518680739e-53,"19","ITM2A","integral membrane protein 2A","19, 9","","This gene encodes a type II membrane protein that belongs to the ITM2 family. Studies in mouse suggest that it may be involved in osteo- and chondrogenic differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]","","BRICHOS domain containing"
"582",3.8341116426065e-55,1.88586403355726,0.788,0.284,8.84759602647876e-51,"19","CD52","CD52 molecule","15, 19, 9","","Not available","Post-translational modification: synthesis of GPI-anchored proteins","CD molecules"
"583",1.95214425853199e-54,1.14246345278395,0.522,0.104,4.50476809098841e-50,"19","CD69","CD69 molecule","13, 19","megakaryocyte, natural killer cell","This gene encodes a member of the calcium dependent lectin superfamily of type II transmembrane receptors. Expression of the encoded protein is induced upon activation of T lymphocytes, and may play a role in proliferation. Furthermore, the protein may act to transmit signals in natural killer cells and platelets. [provided by RefSeq, Aug 2011]","","CD molecules|C-type lectin domain containing"
"584",3.66189215819462e-52,1.27385341553121,1,0.933,8.4501823442499e-48,"19","PABPC1","poly(A) binding protein cytoplasmic 1","","","This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The binding of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening which is the first step in mRNA decay. The gene is part of a small gene family including three protein-coding genes and several pseudogenes.[provided by RefSeq, Aug 2010]","L13a-mediated translational silencing of Ceruloplasmin expression; Deadenylation of mRNA; AUF1 (hnRNP D0) binds and destabilizes mRNA; Translation initiation complex formation; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","RNA binding motif containing"
"585",3.05200366654314e-50,2.96129327078733,0.628,0.183,7.04280366091495e-46,"19","NKG7","natural killer cell granule protein 7","","","Not available","",""
"586",5.65979806456644e-47,1.42134047764563,0.77,0.333,1.30605500137935e-42,"19","MAP3K8","mitogen-activated protein kinase kinase kinase 8","","","This gene is an oncogene that encodes a member of the serine/threonine protein kinase family. The encoded protein localizes to the cytoplasm and can activate both the MAP kinase and JNK kinase pathways. This protein was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This protein was also found to promote the production of TNF-alpha and IL-2 during T lymphocyte activation. This gene may also utilize a downstream in-frame translation start codon, and thus produce an isoform containing a shorter N-terminus. The shorter isoform has been shown to display weaker transforming activity. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]","CD28 dependent PI3K/Akt signaling; MAP3K8 (TPL2)-dependent MAPK1/3 activation; MAP3K8 (TPL2)-dependent MAPK1/3 activation","Mitogen-activated protein kinase kinase kinases"
"587",4.56368892130288e-46,1.06961269697501,0.743,0.288,1.05311685547985e-41,"19","PTPRC","protein tyrosine phosphatase, receptor type C","","b cell, neutrophil granulocyte","The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jun 2012]","Phosphorylation of CD3 and TCR zeta chains; Other semaphorin interactions; Neutrophil degranulation","CD molecules|Fibronectin type III domain containing|Protein tyrosine phosphatases, receptor type"
"588",5.90471511422264e-46,1.12224182660873,1,0.74,1.36257205975802e-41,"19","SRGN","serglycin","1, 15, 19","megakaryocyte","This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. Two transcript variants, only one of them protein-coding, have been found for this gene. [provided by RefSeq, Jul 2010]","Platelet degranulation ","Proteoglycans"
"589",1.61017815908861e-45,1.09413437092834,1,0.874,3.71564711991288e-41,"19","RPL17","ribosomal protein L17","19, 6","","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL23 because the encoded protein shares amino acid identity with ribosomal protein L23 from Halobacterium marismortui; however, its official symbol is RPL17. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream C18orf32 (chromosome 18 open reading frame 32) gene. [provided by RefSeq, Dec 2010]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Formation of a pool of free 40S subunits; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","L ribosomal proteins"
"590",3.71035875295411e-41,1.07234105201649,0.965,0.833,8.5620238583169e-37,"19","NBEAL1","neurobeachin like 1","","","Not available","","WD repeat domain containing|BEACH domain containing |Armadillo-like helical domain containing"
"591",1.81721954935736e-38,1.21182385265802,0.566,0.175,4.19341583209704e-34,"19","STK17A","serine/threonine kinase 17a","14, 19","","This gene is a member of the DAP kinase-related apoptosis-inducing protein kinase family and encodes an autophosphorylated nuclear protein with a protein kinase domain. The protein has apoptosis-inducing activity. [provided by RefSeq, Jul 2008]","","Death associated protein kinases"
"592",1.97569329692868e-38,1.21123580537169,0.903,0.615,4.55910985199262e-34,"19","BTG1","BTG anti-proliferation factor 1","","b cell","This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia. [provided by RefSeq, Oct 2008]","","BTG/Tob family"
"593",1.49846440626324e-36,1.4132075786447,0.575,0.179,3.45785646389305e-32,"19","RGS1","regulator of G protein signaling 1","","","This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008]","G alpha (i) signalling events","Regulators of G-protein signaling"
"594",2.18011670074328e-34,1.05295230432292,0.779,0.402,5.03083729863518e-30,"19","LIMD2","LIM domain containing 2","","","Not available","","LIM domain containing"
"595",2.97219358609735e-33,2.57885119669678,0.646,0.29,6.85863391927824e-29,"19","CMC1","C-X9-C motif containing 1","","","Not available","",""
"596",6.57588268674051e-33,1.45222366211118,0.381,0.084,1.51745068879224e-28,"19","IL32","interleukin 32","","macrophage","This gene encodes a member of the cytokine family. The protein contains a tyrosine sulfation site, 3 potential N-myristoylation sites, multiple putative phosphorylation sites, and an RGD cell-attachment sequence. Expression of this protein is increased after the activation of T-cells by mitogens or the activation of NK cells by IL-2. This protein induces the production of TNFalpha from macrophage cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]","Other interleukin signaling","Interleukins"
"597",1.99380387510312e-29,1.35200924906244,0.805,0.537,4.60090182218796e-25,"19","CREM","cAMP responsive element modulator","","","This gene encodes a bZIP transcription factor that binds to the cAMP responsive element found in many viral and cellular promoters. It is an important component of cAMP-mediated signal transduction during the spermatogenetic cycle, as well as other complex processes. Alternative promoter and translation initiation site usage allows this gene to exert spatial and temporal specificity to cAMP responsiveness. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene, with some of them functioning as activators and some as repressors of transcription. [provided by RefSeq, Jul 2008]","Circadian Clock","Basic leucine zipper proteins"
"598",2.17046620644436e-17,1.27353887623654,0.735,0.59,5.008567817991e-13,"19","PPP1CB","protein phosphatase 1 catalytic subunit beta","","","The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]","Triglyceride catabolism; Downregulation of TGF-beta receptor signaling; Regulation of PLK1 Activity at G2/M Transition; Circadian Clock; RHO GTPases activate PKNs; RHO GTPases activate PKNs; RHO GTPases activate CIT; RHO GTPases Activate ROCKs; RHO GTPases activate PAKs; RHO GTPases activate PAKs","Protein phosphatase catalytic subunits"
"599",7.28145467992537e-17,1.08737567244038,0.823,0.737,1.68026848193958e-12,"19","IFITM2","interferon induced transmembrane protein 2","","","Not available","Interferon alpha/beta signaling","Interferon induced transmembrane proteins"
"600",2.22723958699337e-16,1.73726443347966,0.381,0.145,5.13957807094589e-12,"19","CCL5","C-C motif chemokine ligand 5","13, 19","basophil granulocyte, eosinophil granulocyte, monocyte","This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, functions as a chemoattractant for blood monocytes, memory T helper cells and eosinophils. It causes the release of histamine from basophils and activates eosinophils. This cytokine is one of the major HIV-suppressive factors produced by CD8+ cells. It functions as one of the natural ligands for the chemokine receptor chemokine (C-C motif) receptor 5 (CCR5), and it suppresses in vitro replication of the R5 strains of HIV-1, which use CCR5 as a coreceptor. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]","Chemokine receptors bind chemokines; G alpha (i) signalling events; Interleukin-10 signaling","Chemokine ligands|Endogenous ligands"
"601",0,1.31432632621517,0.993,0.68,0,"2","C1QA","complement C1q A chain","10, 12, 2","","This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]","Initial triggering of complement; Classical antibody-mediated complement activation; Regulation of Complement cascade","Complement system activation components|C1q domain containing"
"602",0,1.26856378265892,0.993,0.614,0,"2","C1QB","complement C1q B chain","10, 12, 2","","This gene encodes the B-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]","Initial triggering of complement; Classical antibody-mediated complement activation; Regulation of Complement cascade","Complement system activation components|C1q domain containing"
"603",0,1.238598371676,0.999,0.646,0,"2","C1QC","complement C1q C chain","10, 12, 2","","This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]","Initial triggering of complement; Classical antibody-mediated complement activation; Regulation of Complement cascade","Complement system activation components|C1q domain containing"
"604",0,1.17389613185004,0.974,0.61,0,"2","AGR2","anterior gradient 2, protein disulphide isomerase family member","10, 12, 2","","This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and a C-terminal ER-retention sequence. This protein plays a role in cell migration, cellular transformation and metastasis and is as a p53 inhibitor. As an ER-localized molecular chaperone, it plays a role in the folding, trafficking, and assembly of cysteine-rich transmembrane receptors and the cysteine-rich intestinal gylcoprotein mucin. This gene has been implicated in inflammatory bowel disease and cancer progression. [provided by RefSeq, Mar 2017]","","Protein disulfide isomerases"
"605",0,1.07652315322962,0.999,0.79,0,"2","AIF1","allograft inflammatory factor 1","10, 12, 2","macrophage, smooth muscle cell","This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]","","EF-hand domain containing"
"606",0,1.01599920915848,0.995,0.779,0,"2","HSPA1A","heat shock protein family A (Hsp70) member 1A","10, 2, 7","neutrophil granulocyte","This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008]","Viral RNP Complexes in the Host Cell Nucleus; Regulation of HSF1-mediated heat shock response; HSP90 chaperone cycle for steroid hormone receptors (SHR); HSF1 activation; Attenuation phase; HSF1-dependent transactivation; AUF1 (hnRNP D0) binds and destabilizes mRNA; Neutrophil degranulation","Heat shock 70kDa proteins|TIM23 complex"
"607",0,1.00824064870296,0.875,0.358,0,"2","NR4A2","nuclear receptor subfamily 4 group A member 2","10, 2","","This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]","Nuclear Receptor transcription pathway; SUMOylation of intracellular receptors","Nuclear hormone receptors"
"608",0,0.996530385453072,0.834,0.415,0,"2","RGS2","regulator of G protein signaling 2","10, 2","myeloid","Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 2 belongs to this family. The protein acts as a mediator of myeloid differentiation and may play a role in leukemogenesis. [provided by RefSeq, Aug 2009]","G alpha (q) signalling events","Endogenous ligands|Regulators of G-protein signaling"
"609",0,0.98783619173712,0.794,0.335,0,"2","GPR183","G protein-coupled receptor 183","15, 2","lymphoid","This gene was identified by the up-regulation of its expression upon Epstein-Barr virus infection of primary B lymphocytes. This gene is predicted to encode a G protein-coupled receptor that is most closely related to the thrombin receptor. Expression of this gene was detected in B-lymphocyte cell lines and lymphoid tissues but not in T-lymphocyte cell lines or peripheral blood T lymphocytes. The function of this gene is unknown. [provided by RefSeq, Jul 2008]","Class A/1 (Rhodopsin-like receptors); G alpha (i) signalling events","G protein-coupled receptors, Class A orphans"
"610",0,0.92482498104928,0.947,0.564,0,"2","FOLR2","folate receptor beta","10, 2","macrophage","The protein encoded by this gene is a member of the folate receptor (FOLR) family, and these genes exist in a cluster on chromosome 11. Members of this gene family have a high affinity for folic acid and for several reduced folic acid derivatives, and they mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This protein has a 68% and 79% sequence homology with the FOLR1 and FOLR3 proteins, respectively. Although this protein was originally thought to be specific to placenta, it can also exist in other tissues, and it may play a role in the transport of methotrexate in synovial macrophages in rheumatoid arthritis patients. Multiple transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]","Post-translational modification: synthesis of GPI-anchored proteins; Metabolism of folate and pterines",""
"611",0,0.922675086749683,0.865,0.422,0,"2","MS4A6A","membrane spanning 4-domains A6A","10, 12, 2","lymphoid","This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011]","","Membrane spanning 4-domains"
"612",0,0.917766742181925,0.787,0.205,0,"2","PLD4","phospholipase D family member 4","10, 2","","Not available","Synthesis of PG; Synthesis of IP3 and IP4 in the cytosol; Role of phospholipids in phagocytosis","Phospholipases"
"613",0,0.900446726969573,0.99,0.656,0,"2","CD36","CD36 molecule","0, 10, 12, 2","adipocytes, erythrocyte, megakaryocyte, neutrophil granulocyte","The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2014]","Platelet degranulation ; Cross-presentation of particulate exogenous antigens (phagosomes); ER-Phagosome pathway; MyD88:Mal cascade initiated on plasma membrane; Toll Like Receptor TLR6:TLR2 Cascade; PPARA activates gene expression; Scavenging by Class B Receptors; Scavenging by Class B Receptors; Transcriptional regulation of white adipocyte differentiation; MyD88 deficiency (TLR2/4); IRAK4 deficiency (TLR2/4); Regulation of TLR by endogenous ligand; Interleukin-4 and Interleukin-13 signaling; Neutrophil degranulation","CD molecules|Scavenger receptors"
"614",0,0.884971753490789,0.88,0.49,0,"2","CD74","CD74 molecule","15, 2, 9","macrophage, progenitor","The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]","Cell surface interactions at the vascular wall; MHC class II antigen presentation","CD molecules"
"615",0,0.879186716777987,0.999,0.866,0,"2","CST3","cystatin C","12, 2, 8","neutrophil granulocyte, smooth muscle cell","The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014]","Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Neutrophil degranulation; Post-translational protein phosphorylation; Amyloid fiber formation","Cystatins, type 2"
"616",0,0.827732598297796,0.997,0.87,0,"2","SAT1","spermidine/spermine N1-acetyltransferase 1","10, 12, 15, 2, 20","","The protein encoded by this gene belongs to the acetyltransferase family, and is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the acetylation of spermidine and spermine, and is involved in the regulation of the intracellular concentration of polyamines and their transport out of cells. Defects in this gene are associated with keratosis follicularis spinulosa decalvans (KFSD). Alternatively spliced transcripts have been found for this gene.[provided by RefSeq, Sep 2009]","Interconversion of polyamines","GCN5 related N-acetyltransferases"
"617",0,0.803854559190641,0.852,0.377,0,"2","GPR34","G protein-coupled receptor 34","12, 2","","G protein-coupled receptors (GPCRs), such as GPR34, are integral membrane proteins containing 7 putative transmembrane domains (TMs). These proteins mediate signals to the interior of the cell via activation of heterotrimeric G proteins that in turn activate various effector proteins, ultimately resulting in a physiologic response.[supplied by OMIM, Apr 2006]","","G protein-coupled receptors, Class A orphans"
"618",0,0.787329306838846,0.944,0.592,0,"2","RNASET2","ribonuclease T2","12, 2","neutrophil granulocyte","This ribonuclease gene is a novel member of the Rh/T2/S-glycoprotein class of extracellular ribonucleases. It is a single copy gene that maps to 6q27, a region associated with human malignancies and chromosomal rearrangement. [provided by RefSeq, Jul 2008]","Neutrophil degranulation",""
"619",0,0.773761849702178,0.872,0.425,0,"2","ABCG2","ATP binding cassette subfamily G member 2 (Junior blood group)","12, 2","","The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]","Abacavir transmembrane transport; Iron uptake and transport","Blood group antigens|CD molecules|ATP binding cassette subfamily G"
"620",0,0.74448616058897,0.883,0.501,0,"2","BIN1","bridging integrator 1","12, 2","","This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]","Clathrin-mediated endocytosis","N-BAR domain containing"
"621",0,0.735303578864521,0.966,0.623,0,"2","LST1","leukocyte specific transcript 1","12, 2","","The protein encoded by this gene is a membrane protein that can inhibit the proliferation of lymphocytes. Expression of this gene is enhanced by lipopolysaccharide, interferon-gamma, and bacteria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]","",""
"622",0,0.717933019487929,0.759,0.322,0,"2","RNASE6","ribonuclease A family member k6","10, 12, 2","","The protein encoded by this gene is a member of the ribonuclease A superfamily and functions in the urinary tract. The protein has broad-spectrum antimicrobial activity against pathogenic bacteria. [provided by RefSeq, Nov 2014]","Antimicrobial peptides","Ribonuclease A family"
"623",0,0.680451234860219,1,0.922,0,"2","B2M","beta-2-microglobulin","15, 2","lymphoid, neutrophil granulocyte","This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014]","ER-Phagosome pathway; ER-Phagosome pathway; Endosomal/Vacuolar pathway; Nef mediated downregulation of MHC class I complex cell surface expression; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; DAP12 interactions; DAP12 signaling; DAP12 signaling; Neutrophil degranulation; Interferon gamma signaling; Amyloid fiber formation; Antigen Presentation: Folding, assembly and peptide loading of class I MHC","C1-set domain containing"
"624",2.0261155025238e-307,0.818498688258157,0.924,0.516,4.67546413362392e-303,"2","HPGDS","hematopoietic prostaglandin D synthase","","mast cell, megakaryocyte","Prostaglandin-D synthase is a sigma class glutathione-S-transferase family member. The enzyme catalyzes the conversion of PGH2 to PGD2 and plays a role in the production of prostanoids in the immune system and mast cells. The presence of this enzyme can be used to identify the differentiation stage of human megakaryocytes. [provided by RefSeq, Jul 2008]","Glutathione conjugation; Synthesis of Prostaglandins (PG) and Thromboxanes (TX)","Soluble glutathione S-transferases"
"625",1.53700806747988e-304,0.970394491241624,0.964,0.667,3.54679981651657e-300,"2","HSPA1B","heat shock protein family A (Hsp70) member 1B","10, 2, 7","neutrophil granulocyte","This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008]","Regulation of HSF1-mediated heat shock response; HSP90 chaperone cycle for steroid hormone receptors (SHR); HSF1 activation; Attenuation phase; HSF1-dependent transactivation; Neutrophil degranulation","Heat shock 70kDa proteins|TIM23 complex"
"626",8.38984202154578e-294,0.695790475156646,0.996,0.821,1.9360399448919e-289,"2","FCGRT","Fc fragment of IgG receptor and transporter","12, 2","","This gene encodes a receptor that binds the Fc region of monomeric immunoglobulin G. The encoded protein transfers immunoglobulin G antibodies from mother to fetus across the placenta. This protein also binds immunoglobulin G to protect the antibody from degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]","","C1-set domain containing"
"627",1.23269395112909e-292,0.749193084188255,0.932,0.633,2.84456456162548e-288,"2","HLA-B","major histocompatibility complex, class I, B","15, 2","lymphoid, neutrophil granulocyte","HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]","ER-Phagosome pathway; ER-Phagosome pathway; Endosomal/Vacuolar pathway; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; Neutrophil degranulation; Interferon gamma signaling; Interferon alpha/beta signaling; Antigen Presentation: Folding, assembly and peptide loading of class I MHC; Antigen Presentation: Folding, assembly and peptide loading of class I MHC","Histocompatibility complex|C1-set domain containing"
"628",1.5485742360193e-288,0.813127656284574,0.984,0.803,3.57348990703814e-284,"2","DNAJB1","DnaJ heat shock protein family (Hsp40) member B1","10, 2","","This gene encodes a member of the DnaJ or Hsp40 (heat shock protein 40 kD) family of proteins. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. The encoded protein is a molecular chaperone that stimulates the ATPase activity of Hsp70 heat-shock proteins in order to promote protein folding and prevent misfolded protein aggregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]","Regulation of HSF1-mediated heat shock response; HSP90 chaperone cycle for steroid hormone receptors (SHR); HSF1 activation; Attenuation phase; HSF1-dependent transactivation; MAPK6/MAPK4 signaling","DNAJ (HSP40) heat shock proteins"
"629",4.2855558499797e-287,0.671984108887842,0.757,0.318,9.88934867941315e-283,"2","MS4A4A","membrane spanning 4-domains A4A","10, 12, 2","lymphoid","This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features, similar intron/exon splice boundaries, and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]","","Membrane spanning 4-domains"
"630",2.46581720558092e-281,0.687313062563308,0.917,0.483,5.69011978359852e-277,"2","LY96","lymphocyte antigen 96","0, 12, 2","","This gene encodes a protein which associates with toll-like receptor 4 on the cell surface and confers responsiveness to lipopolysaccyaride (LPS), thus providing a link between the receptor and LPS signaling. Studies of the mouse ortholog suggest that this gene may be involved in endotoxin neutralization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2010]","ER-Phagosome pathway; via Death Receptors in the presence of ligand; Toll Like Receptor 4 (TLR4) Cascade; MyD88:Mal cascade initiated on plasma membrane; MyD88-independent TLR4 cascade ; TRIF-mediated programmed cell death; MyD88 deficiency (TLR2/4); IRAK4 deficiency (TLR2/4); Regulation of TLR by endogenous ligand; TICAM1,TRAF6-dependent induction of TAK1 complex; Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon; IKK complex recruitment mediated by RIP1; TRAF6-mediated induction of TAK1 complex within TLR4 complex; IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation",""
"631",1.06809186553286e-279,0.655820719015533,0.94,0.598,2.46472878890362e-275,"2","PYCARD","PYD and CARD domain containing","12, 2","neutrophil granulocyte","This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","CLEC7A/inflammasome pathway; Neutrophil degranulation; The NLRP3 inflammasome; The AIM2 inflammasome","Caspase recruitment domain containing|Pyrin domain containing"
"632",2.10176828849976e-267,0.757572687318566,0.753,0.381,4.85004050254205e-263,"2","IFNGR1","interferon gamma receptor 1","12, 2","","This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]","Interferon gamma signaling; Regulation of IFNG signaling; Regulation of IFNG signaling","CD molecules|Interferon receptors"
"633",6.56474850030637e-266,0.851362227192491,0.735,0.347,1.5148813639307e-261,"2","SLC40A1","solute carrier family 40 member 1","12, 2","macrophage","The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]","Metal ion SLC transporters; Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages); Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum); Iron uptake and transport","Solute carriers"
"634",1.72174473526263e-265,0.674251263005816,0.929,0.505,3.97309815109205e-261,"2","MRC1","mannose receptor C-type 1","0, 2","macrophage","The recognition of complex carbohydrate structures on glycoproteins is an important part of several biological processes, including cell-cell recognition, serum glycoprotein turnover, and neutralization of pathogens. The protein encoded by this gene is a type I membrane receptor that mediates the endocytosis of glycoproteins by macrophages. The protein has been shown to bind high-mannose structures on the surface of potentially pathogenic viruses, bacteria, and fungi so that they can be neutralized by phagocytic engulfment.[provided by RefSeq, Sep 2015]","Cross-presentation of soluble exogenous antigens (endosomes); Cross-presentation of soluble exogenous antigens (endosomes)","CD molecules|Scavenger receptors|C-type lectin domain containing"
"635",3.39289396422462e-262,0.733280363887995,1,0.898,7.82944211184473e-258,"2","HSPB1","heat shock protein family B (small) member 1","10, 2","","This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct folding of other proteins. This protein plays an important role in the differentiation of a wide variety of cell types. Expression of this gene is correlated with poor clinical outcome in multiple human cancers, and the encoded protein may promote cancer cell proliferation and metastasis, while protecting cancer cells from apoptosis. Mutations in this gene have been identified in human patients with Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. [provided by RefSeq, Aug 2017]","Regulation of HSF1-mediated heat shock response; HSF1 activation; Attenuation phase; HSF1-dependent transactivation; VEGFA-VEGFR2 Pathway; AUF1 (hnRNP D0) binds and destabilizes mRNA; MAPK6/MAPK4 signaling","Small heat shock proteins"
"636",1.51632794503498e-255,0.663351870652026,0.771,0.345,3.49907836596273e-251,"2","MS4A7","membrane spanning 4-domains A7","12, 2","lymphoid","This gene encodes a member of the membrane-spanning 4A gene family, members of which are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. This family member is associated with mature cellular function in the monocytic lineage, and it may be a component of a receptor complex involved in signal transduction. This gene is localized to 11q12, in a cluster of other family members. At least four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq, Jul 2008]","","Membrane spanning 4-domains"
"637",7.18117577908986e-250,0.720834863531213,0.935,0.567,1.65712812278278e-245,"2","CD68","CD68 molecule","0, 12, 2","connective tissue macrophage, macrophage, monocyte, neutrophil granulocyte","This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]","Neutrophil degranulation","CD molecules|Scavenger receptors"
"638",1.23366590207495e-241,0.705553735814023,0.967,0.755,2.84680743562816e-237,"2","CCL4L2","C-C motif chemokine ligand 4 like 2","1, 2","","This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this family member is similar to the chemokine (C-C motif) ligand 4 product, which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals, where most individuals have one to five copies. This gene copy contains a non-consensus splice acceptor site at the 3' terminal exon found in other highly similar gene copies, and it thus uses other alternative splice sites for the 3' terminal exon, resulting in multiple transcript variants. [provided by RefSeq, Apr 2014]","G alpha (i) signalling events","Chemokine ligands"
"639",6.73164834590464e-236,0.682854214109048,0.976,0.793,1.55339517230095e-231,"2","CCL4","C-C motif chemokine ligand 4","1, 2","","The protein encoded by this gene is a mitogen-inducible monokine and is one of the major HIV-suppressive factors produced by CD8+ T-cells. The encoded protein is secreted and has chemokinetic and inflammatory functions. [provided by RefSeq, Dec 2012]","G alpha (i) signalling events; Interleukin-10 signaling","Chemokine ligands|Endogenous ligands"
"640",4.18531588524681e-233,0.690198786618498,0.95,0.683,9.65803493679554e-229,"2","GADD45B","growth arrest and DNA damage inducible beta","","","This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway.  This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. [provided by RefSeq, Jul 2008]","",""
"641",6.99870675332219e-230,0.650899246098363,0.594,0.231,1.61502157039663e-225,"2","TIMD4","T cell immunoglobulin and mucin domain containing 4","12, 2","","Not available","","V-set domain containing"
"642",1.11270266258691e-228,0.665685410720164,0.84,0.447,2.56767266418556e-224,"2","VSIG4","V-set and immunoglobulin domain containing 4","","","This gene encodes a v-set and immunoglobulin-domain containing protein that is structurally related to the B7 family of immune regulatory proteins. The encoded protein may be a negative regulator of T-cell responses. This protein is also a receptor for the complement component 3 fragments C3b and iC3b. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]","","V-set domain containing|Immunoglobulin like domain containing|Complement system regulators and receptors"
"643",4.8485597523876e-218,1.15735406572704,0.719,0.385,1.11885364846096e-213,"2","HSPA6","heat shock protein family A (Hsp70) member 6","10, 2","neutrophil granulocyte","Not available","Regulation of HSF1-mediated heat shock response; HSF1 activation; Attenuation phase; HSF1-dependent transactivation; Neutrophil degranulation","Heat shock 70kDa proteins"
"644",3.63531751680698e-210,0.656791803522768,0.886,0.605,8.38885870178378e-206,"2","HERPUD1","homocysteine inducible ER protein with ubiquitin like domain 1","","","The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. The full-length nature of all transcript variants has not been determined. [provided by RefSeq, Jan 2013]","ATF4 activates genes",""
"645",3.91586353340244e-199,0.678736471698213,0.72,0.374,9.03624668967947e-195,"2","PMAIP1","phorbol-12-myristate-13-acetate-induced protein 1","","","Not available","Activation of NOXA and translocation to mitochondria; BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members; TP53 Regulates Transcription of Genes Involved in Cytochrome C Release","BCL2 homology region 3 (BH3) only"
"646",1.20071437001085e-197,0.658173321642516,0.827,0.531,2.77076848023703e-193,"2","RHOB","ras homolog family member B","10, 2","","Not available","GPVI-mediated activation cascade; Rho GTPase cycle; G alpha (12/13) signalling events; Sema4D induced cell migration and growth-cone collapse; Sema4D induced cell migration and growth-cone collapse; RHO GTPases activate PKNs; RHO GTPases activate CIT; RHO GTPases activate CIT; RHO GTPases Activate ROCKs; RHO GTPases Activate ROCKs; RHO GTPases Activate Formins; RHO GTPases Activate Rhotekin and Rhophilins","Rho family GTPases"
"647",3.45706909569473e-169,0.733642641341919,0.787,0.518,7.97753264522517e-165,"2","ZFAND2A","zinc finger AN1-type containing 2A","10, 2","","Not available","","Zinc fingers AN1-type"
"648",2.02285514853616e-154,0.750495532374652,0.97,0.783,4.66794054076205e-150,"2","RNASE1","ribonuclease A family member 1, pancreatic","0, 1, 10, 2","","This gene encodes a member of the pancreatic-type of secretory ribonucleases, a subset of the ribonuclease A superfamily. The encoded endonuclease cleaves internal phosphodiester RNA bonds on the 3'-side of pyrimidine bases. It prefers poly(C) as a substrate and hydrolyzes 2',3'-cyclic nucleotides, with a pH optimum near 8.0. The encoded protein is monomeric and more commonly acts to degrade ds-RNA over ss-RNA. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]","","Ribonuclease A family"
"649",7.6471743074479e-147,0.706534988743487,0.855,0.639,1.76466194318668e-142,"2","HMOX1","heme oxygenase 1","0, 10, 12, 2","","Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. [provided by RefSeq, Jul 2008]","Heme degradation; Interleukin-4 and Interleukin-13 signaling; Iron uptake and transport",""
"650",2.54526687879656e-121,0.670697917495477,0.901,0.709,5.87345784951095e-117,"2","SEPP1","SEPP1","2, 6","","SEPP1","SEPP1","SEPP1"
"651",0,3.63116133596438,0.99,0.037,0,"20","PSG3","pregnancy specific beta-1-glycoprotein 3","","","The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]","Cell surface interactions at the vascular wall","V-set domain containing|Pregnancy specific glycoproteins"
"652",0,3.06993823959931,0.942,0.024,0,"20","PSG9","pregnancy specific beta-1-glycoprotein 9","","megakaryocyte","The protein encoded by this gene is a member of the pregnancy-specific glycoprotein (PSG) family. This protein family and the closely related carcinoembryonic antigen cell adhesion molecule (CEACAM) gene family are both members of the immunoglobulin superfamily, and are organized as a large gene cluster. This protein is thought to inhibit platelet-fibrinogen interactions. Several studies suggest that reduced serum concentrations of PSGs are associated with fetal growth restrictions, while up-regulation of this gene has been observed in colorectal cancers. Several pseudogenes of this gene are found on chromosome 19. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms. [provided by RefSeq, Sep 2014]","Cell surface interactions at the vascular wall","V-set domain containing|Pregnancy specific glycoproteins"
"653",0,2.95606057612706,0.99,0.022,0,"20","PSG1","pregnancy specific beta-1-glycoprotein 1","","","The human placenta is a multihormonal endocrine organ that produces hormones, enzymes, and other molecules that support fetal survival and development. Pregnancy-specific beta-1-glycoprotein (PSBG, PSG) is a major product of the syncytiotrophoblast, reaching concentrations of 100 to 290 mg/l at term in the serum of pregnant women (Horne et al., 1976 [PubMed 971765]). PSG is a member of the immunoglobulin (Ig) superfamily (Watanabe and Chou, 1988 [PubMed 3257488]; Streydio et al., 1988 [PubMed 3260773]).[supplied by OMIM, Oct 2009]","Cell surface interactions at the vascular wall","CD molecules|V-set domain containing|Pregnancy specific glycoproteins"
"654",0,2.9264054382992,1,0.019,0,"20","PSG2","pregnancy specific beta-1-glycoprotein 2","","","The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]","Cell surface interactions at the vascular wall","V-set domain containing|Pregnancy specific glycoproteins"
"655",0,2.83861415214728,0.981,0.02,0,"20","PSG4","pregnancy specific beta-1-glycoprotein 4","","","The protein encoded by this gene is a pregnancy-specific glycoprotein (PSG), one of several encoded by a cluster of similar genes on chromosome 19. This gene is a member of the carcinoembryonic antigen (CEA) gene family and may play a role in regulation of the innate immune system. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]","Cell surface interactions at the vascular wall","V-set domain containing|Pregnancy specific glycoproteins"
"656",0,2.81083624004215,1,0.023,0,"20","PSG5","pregnancy specific beta-1-glycoprotein 5","","","The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]","Cell surface interactions at the vascular wall","V-set domain containing|Pregnancy specific glycoproteins"
"657",0,2.67578846994306,0.99,0.012,0,"20","CGB7","chorionic gonadotropin subunit beta 7","","","This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 7 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008]","",""
"658",0,2.60052022652883,0.99,0.015,0,"20","PSG11","pregnancy specific beta-1-glycoprotein 11","","","The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]","Cell surface interactions at the vascular wall","V-set domain containing|Pregnancy specific glycoproteins"
"659",0,2.53079930805941,0.923,0.033,0,"20","EBI3","Epstein-Barr virus induced 3","","","This gene was identified by its induced expression in B lymphocytes in response Epstein-Barr virus infection. It encodes a secreted glycoprotein belonging to the hematopoietin receptor family, and heterodimerizes with a 28 kDa protein to form interleukin 27 (IL-27). IL-27 regulates T cell and inflammatory responses, in part by activating the Jak/STAT pathway of CD4+ T cells. [provided by RefSeq, Sep 2008]","Interleukin-35 Signalling; Interleukin-27 signaling","Fibronectin type III domain containing|Minor histocompatibility antigens"
"660",0,2.49429013760583,0.913,0.017,0,"20","GH2","growth hormone 2","","anterior pituitary cells gonadotropes, anterior pituitary cells somatotropes","The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. As in the case of its pituitary counterpart, growth hormone 1, the predominant isoform of this particular family member shows similar somatogenic activity, with reduced lactogenic activity. Mutations in this gene lead to placental growth hormone/lactogen deficiency. [provided by RefSeq, Jul 2008]","Prolactin receptor signaling; Prolactin receptor signaling; Growth hormone receptor signaling; Growth hormone receptor signaling","Endogenous ligands|Growth hormone family"
"661",0,2.42128469966762,0.885,0.011,0,"20","PSG7","pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)","","","This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]","Cell surface interactions at the vascular wall","Pregnancy specific glycoproteins"
"662",0,2.29508229516413,0.952,0.02,0,"20","INSL4","insulin like 4","","progenitor","INSL4 encodes the insulin-like 4 protein, a member of the insulin superfamily. INSL4 encodes a precursor that undergoes post-translational cleavage to produce 3 polypeptide chains, A-C, that form tertiary structures composed of either all three chains, or just the A and B chains. Expression of INSL4 products occurs within the early placental cytotrophoblast and syncytiotrophoblast. [provided by RefSeq, Jul 2008]","",""
"663",0,2.28906997066449,0.942,0.018,0,"20","LGALS14","galectin 14","","","This gene is predominantly expressed in placenta. The encoded protein belongs to the galectin (galaptin/S-lectin) family. The members of galectin family contain one or two carbohydrate recognition domains, which can bind beta-galactoside. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]","","Galectins"
"664",0,2.24519989706406,0.952,0.01,0,"20","PSG6","pregnancy specific beta-1-glycoprotein 6","","","This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. The protein encoded by this gene contains the Arg-Gly-Asp tripeptide associated with cellular adhesion and recognition. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]","Cell surface interactions at the vascular wall","V-set domain containing|Pregnancy specific glycoproteins"
"665",0,2.21520964588354,0.981,0.007,0,"20","CGB2","chorionic gonadotropin subunit beta 2","","","The beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous with the luteinizing hormone beta (LHB) subunit gene. The CGB genes are primarily distinguished by differences in the 5' untranscribed region. This gene was originally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts in vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protein product corresponding to CGB2 has not been isolated. The deduced sequence of the hypothetical protein of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 163 aa protein, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. [provided by RefSeq, Jul 2008]","",""
"666",0,2.15810478209727,0.971,0.041,0,"20","HSD17B1","hydroxysteroid 17-beta dehydrogenase 1","","adipocytes","This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentration gradient between serum and peripheral tissues. The encoded protein catalyzes the last step in estrogen activation, using NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-terminal short-chain dehydrogenase domain with a cofactor binding site, and a narrow, hydrophobic C-terminal domain with a steroid substrate binding site. This gene is expressed primarily in the placenta and ovarian granulosa cells, and to a lesser extent, in the endometrium, adipose tissue, and prostate. Polymorphisms in this gene have been linked to breast and prostate cancer. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]","Estrogen biosynthesis; The canonical retinoid cycle in rods (twilight vision)","Short chain dehydrogenase/reductase superfamily"
"667",0,2.10266358901636,0.962,0.014,0,"20","XAGE2","X antigen family member 2","","","This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in normal testis, and in Ewing's sarcoma, rhabdomyosarcoma, a breast cancer and a germ cell tumor. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. [provided by RefSeq, Jul 2008]","",""
"668",0,2.03119020420928,0.962,0.014,0,"20","LGALS13","galectin 13","","","Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene has lysophospholipase activity. It is composed of two identical subunits which are held together by disulfide bonds. This protein has structural similarity to several members of the beta-galactoside-binding S-type lectin family. [provided by RefSeq, Jul 2008]","","Galectins"
"669",0,1.97583931279141,0.99,0.012,0,"20","CYP11A1","cytochrome P450 family 11 subfamily A member 1","","","This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]","Pregnenolone biosynthesis; Endogenous sterols; Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)","Cytochrome P450 family 11"
"670",0,1.86116348031078,0.904,0.014,0,"20","LEP","leptin","","adipocytes","This gene encodes a protein that is secreted by white adipocytes into the circulation and plays a major role in the regulation of energy homeostasis. Circulating leptin binds to the leptin receptor in the brain, which activates downstream signaling pathways that inhibit feeding and promote energy expenditure. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis, reproduction, bone formation and wound healing. Mutations in this gene and its regulatory regions cause severe obesity and morbid obesity with hypogonadism in human patients. A mutation in this gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Aug 2017]","Signaling by Leptin; Transcriptional regulation of white adipocyte differentiation; Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1); Synthesis, secretion, and deacylation of Ghrelin",""
"671",0,1.76378059549694,0.817,0.02,0,"20","CGB8","chorionic gonadotropin subunit beta 8","","","This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 8 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008]","Glycoprotein hormones; TFAP2 (AP-2) family regulates transcription of growth factors and their receptors",""
"672",0,1.61478691191555,0.894,0.009,0,"20","MFAP5","microfibril associated protein 5","","","This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]","Elastic fibre formation; Molecules associated with elastic fibres; Molecules associated with elastic fibres",""
"673",0,1.60318462615335,0.846,0.008,0,"20","XAGE3","X antigen family member 3","","","This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is expressed in placenta and fetal liver/spleen, and may function in inhibiting cancer cell growth. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene generates 2 transcript variants differing in the 5' UTR. [provided by RefSeq, Jul 2008]","",""
"674",0,1.5960241216646,0.894,0.005,0,"20","LINC00967","long intergenic non-protein coding RNA 967","","","Not available","",""
"675",0,1.4448764454353,0.798,0.036,0,"20","HSPB8","heat shock protein family B (small) member 8","","","The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation, apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]","HSF1-dependent transactivation","Small heat shock proteins"
"676",0,1.43001774859372,0.808,0.008,0,"20","INHA","inhibin subunit alpha","","anterior pituitary cells gonadotropes, theca interna cell of ovarian follicle secreting estrogen","This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate multiple peptide products, including the alpha subunit of the inhibin A and B protein complexes. These complexes negatively regulate follicle stimulating hormone secretion from the pituitary gland. Inhibins have also been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. Mutations in this gene may be associated with male infertility and premature ovarian failure in female human patients. [provided by RefSeq, Aug 2016]","Glycoprotein hormones","Inhibin subunits"
"677",0,1.41747998465112,0.846,0.013,0,"20","FXYD3","FXYD domain containing ion transport regulator 3","","","This gene belongs to a small family of FXYD-domain containing regulators of Na+/K+ ATPases which share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD, and containing 7 invariant and 6 highly conserved amino acids. This gene encodes a cell membrane protein that may regulate the function of ion-pumps and ion-channels. This gene may also play a role in tumor progression. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]","Ion homeostasis; Ion transport by P-type ATPases",""
"678",1.28152874779938e-278,2.47985998141042,1,0.081,2.95725573842185e-274,"20","CLIC3","chloride intracellular channel 3","18, 20","","Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 3 is a member of the p64 family and is predominantly localized in the nucleus and stimulates chloride ion channel activity. In addition, this protein may participate in cellular growth control, based on its association with ERK7, a member of the MAP kinase family. [provided by RefSeq, Jul 2008]","","Chloride intracellular channels"
"679",6.62499578672765e-257,2.80129547204987,1,0.09,1.52878402774527e-252,"20","HOPX","HOP homeobox","","","The protein encoded by this gene is a homeodomain protein that lacks certain conserved residues required for DNA binding. It was reported that choriocarcinoma cell lines and tissues failed to express this gene, which suggested the possible involvement of this gene in malignant conversion of placental trophoblasts. Studies in mice suggest that this protein may interact with serum response factor (SRF) and modulate SRF-dependent cardiac-specific gene expression and cardiac development. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Feb 2009]","","PRD class homeoboxes and pseudogenes"
"680",1.22987469837345e-205,3.84146105290861,0.99,0.115,2.83805885396657e-201,"20","TFPI2","tissue factor pathway inhibitor 2","","","This gene encodes a member of the Kunitz-type serine proteinase inhibitor family. The protein can inhibit a variety of serine proteases including factor VIIa/tissue factor, factor Xa, plasmin, trypsin, chymotryspin and plasma kallikrein. This gene has been identified as a tumor suppressor gene in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]","",""
"681",3.65641567269679e-201,1.44660287246902,0.837,0.072,8.4375448063151e-197,"20","CRYAB","crystallin alpha B","","","Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]","HSF1-dependent transactivation","Small heat shock proteins"
"682",1.36274758920259e-192,3.81480980346265,1,0.129,3.14467633684389e-188,"20","S100P","S100 calcium binding protein P","","neutrophil granulocyte","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 4p16. This protein, in addition to binding Ca2+, also binds Zn2+ and Mg2+. This protein may play a role in the etiology of prostate cancer. [provided by RefSeq, Jul 2008]","Neutrophil degranulation","S100 calcium binding proteins|EF-hand domain containing"
"683",7.3451014631921e-181,1.49418798771484,0.913,0.102,1.69495561364621e-176,"20","PGF","placental growth factor","","","This gene encodes a growth factor found in placenta which is homologous to vascular endothelial growth factor. Alternatively spliced transcripts encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]","VEGF ligand-receptor interactions; VEGF binds to VEGFR leading to receptor dimerization","VEGF family"
"684",8.55101846727429e-168,4.38610914865712,0.962,0.137,1.97323302150821e-163,"20","CSH1","chorionic somatomammotropin hormone 1","","anterior pituitary cells somatotropes","The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, although the ratio of 1 to 2 increases by term. Mutations in this gene result in placental lactogen deficiency and Silver-Russell syndrome. [provided by RefSeq, Jul 2008]","Prolactin receptor signaling; Prolactin receptor signaling; Growth hormone receptor signaling","Growth hormone family"
"685",2.21243793637737e-160,4.47325230526754,1,0.163,5.10542178198443e-156,"20","CSH2","chorionic somatomammotropin hormone 2","","anterior pituitary cells somatotropes","The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, while the ratio of 1 to 2 increases by term. Structural and expression differences provide avenues for developmental regulation and tissue specificity. [provided by RefSeq, Jul 2008]","","Growth hormone family"
"686",1.17471286599638e-127,2.14008311969929,0.933,0.168,2.71076740957326e-123,"20","PKIB","cAMP-dependent protein kinase inhibitor beta","","","This gene encodes a member of the cAMP-dependent protein kinase inhibitor family. The encoded protein may play a role in the protein kinase A (PKA) pathway by interacting with the catalytic subunit of PKA, and overexpression of this gene may play a role in prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]","",""
"687",2.0311441433245e-122,5.23192621535369,0.99,0.226,4.68706822513562e-118,"20","CGB","CGB","","","CGB","CGB","CGB"
"688",1.10082333230083e-98,4.12480452347871,1,0.307,2.5402599216174e-94,"20","GDF15","growth differentiation factor 15","14, 20","","This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The protein is expressed in a broad range of cell types, acts as a pleiotropic cytokine and is involved in the stress response program of cells after cellular injury. Increased protein levels are associated with disease states such as tissue hypoxia, inflammation, acute injury and oxidative stress. [provided by RefSeq, Aug 2016]","",""
"689",7.67321842728408e-85,1.79927051728148,0.962,0.3,1.77067188428007e-80,"20","FDX1","ferredoxin 1","","","This gene encodes a small iron-sulfur protein that transfers electrons from NADPH through ferredoxin reductase to mitochondrial cytochrome P450, involved in steroid, vitamin D, and bile acid metabolism. Pseudogenes of this functional gene are found on chromosomes 20 and 21. [provided by RefSeq, Aug 2011]","Mitochondrial iron-sulfur cluster biogenesis; Pregnenolone biosynthesis; Endogenous sterols; Electron transport from NADPH to Ferredoxin; Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)",""
"690",1.91919895104998e-84,5.80314618173033,1,0.428,4.42874349944293e-80,"20","KISS1","KiSS-1 metastasis suppressor","","","This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and thereby attenuate metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A protein product of this gene, kisspeptin, stimulates gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion and regulates the pubertal activation of GnRH nuerons. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq, Mar 2012]","Peptide ligand-binding receptors; G alpha (q) signalling events","Endogenous ligands"
"691",3.05997976550131e-78,1.48993338690545,0.933,0.235,7.06120930687083e-74,"20","KRT19","keratin 19","16, 18, 20","","The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically expressed in the periderm, the transiently superficial layer that envelopes the developing epidermis. The type I cytokeratins are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2008]","Keratinization; Formation of the cornified envelope","Keratins, type I"
"692",4.96742671079532e-71,1.58829393663762,0.875,0.275,1.14628338778313e-66,"20","NUCB2","nucleobindin 2","","endothelial cells","This gene encodes a protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. [provided by RefSeq, Oct 2011]","","EF-hand domain containing"
"693",5.42350665631836e-70,6.31663252481464,1,0.785,1.25152839601202e-65,"20","CGA","glycoprotein hormones, alpha polypeptide","","adrenal gland secreting steroid hormones mineralocorticoids glucocorticoid","The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. The protein encoded by this gene is the alpha subunit and belongs to the glycoprotein hormones alpha chain family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]","Androgen biosynthesis; Mineralocorticoid biosynthesis; Glycoprotein hormones; Thyroxine biosynthesis; Hormone ligand-binding receptors; G alpha (s) signalling events; TFAP2 (AP-2) family regulates transcription of growth factors and their receptors; Reactions specific to the complex N-glycan synthesis pathway","Endogenous ligands"
"694",5.96084850215696e-68,2.06066129790163,1,0.546,1.37552540035774e-63,"20","GLRX","glutaredoxin","12, 20","","This gene encodes a member of the glutaredoxin family. The encoded protein is a cytoplasmic enzyme catalyzing the reversible reduction of glutathione-protein mixed disulfides. This enzyme highly contributes to the antioxidant defense system. It is crucial for several signalling pathways by controlling the S-glutathionylation status of signalling mediators. It is involved in beta-amyloid toxicity and Alzheimer's disease. Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2011]","Interconversion of nucleotide di- and triphosphates","Glutaredoxin domain containing"
"695",3.73557987748972e-62,1.61044030875079,0.942,0.398,8.62022412529528e-58,"20","HIST1H1C","histone cluster 1 H1 family member c","14, 20","","Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]","Activation of DNA fragmentation factor; Formation of Senescence-Associated Heterochromatin Foci (SAHF)","Histones"
"696",3.77620969145533e-59,1.41939862792718,0.99,0.668,8.71398148400231e-55,"20","FKBP2","FK506 binding protein 2","","","The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is thought to function as an ER chaperone and may also act as a component of membrane cytoskeletal scaffolds. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]","","FKBP prolyl isomerases"
"697",1.32201514373712e-58,1.87111229090579,0.942,0.375,3.05068214568777e-54,"20","TFPI","tissue factor pathway inhibitor","11, 20, 6","","This gene encodes a Kunitz-type serine protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. Inhibition of the encoded protein restores hemostasis in animal models of hemophilia. This gene encodes multiple protein isoforms that differ in their inhibitory activity, specificity and cellular localization. [provided by RefSeq, Jul 2016]","Extrinsic Pathway of Fibrin Clot Formation",""
"698",7.39079542060943e-49,1.43011300384995,0.962,0.394,1.70549995125983e-44,"20","KRT8","keratin 8","16, 18, 20, 4","","This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]","Keratinization; Formation of the cornified envelope","Keratins, type II"
"699",1.12468925662663e-47,1.41897906243988,1,0.819,2.59533292859162e-43,"20","S100A6","S100 calcium binding protein A6","14, 15, 20","","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-dependent insulin release, stimulation of prolactin secretion, and exocytosis. Chromosomal rearrangements and altered expression of this gene have been implicated in melanoma. [provided by RefSeq, Jul 2008]","","S100 calcium binding proteins|EF-hand domain containing"
"700",6.58098381327116e-43,1.48320788527469,1,0.881,1.51862782475045e-38,"20","SAT1","spermidine/spermine N1-acetyltransferase 1","10, 12, 15, 2, 20","","The protein encoded by this gene belongs to the acetyltransferase family, and is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the acetylation of spermidine and spermine, and is involved in the regulation of the intracellular concentration of polyamines and their transport out of cells. Defects in this gene are associated with keratosis follicularis spinulosa decalvans (KFSD). Alternatively spliced transcripts have been found for this gene.[provided by RefSeq, Sep 2009]","Interconversion of polyamines","GCN5 related N-acetyltransferases"
"701",2.7437168186792e-182,1.04257304815154,0.818,0.066,6.33140093078412e-178,"21","GABRE","gamma-aminobutyric acid type A receptor epsilon subunit","21, 5","","The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants have been identified, but only one is thought to encode a protein. [provided by RefSeq, Oct 2008]","","Gamma-aminobutyric acid type A receptor subunits"
"702",9.54297671409918e-127,2.8430340264843,1,0.146,2.20213730654553e-122,"21","HBB","hemoglobin subunit beta","17, 21, 5","erythrocyte, megakaryocyte, neutrophil granulocyte","The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Scavenging of heme from plasma; Neutrophil degranulation; Factors involved in megakaryocyte development and platelet production","Hemoglobin subunits"
"703",5.36750007165788e-110,1.03559418071741,0.795,0.1,1.23860431653577e-105,"21","HBD","hemoglobin subunit delta","13, 21","megakaryocyte","The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order:      5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia. [provided by RefSeq, Jul 2008]","Factors involved in megakaryocyte development and platelet production","Hemoglobin subunits"
"704",1.54866159687437e-99,0.611634060032969,0.659,0.073,3.5736915009473e-95,"21","PRDM6","PR/SET domain 6","21, 5","smooth muscle cell","The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. Mutations in this gene result in patent ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017]","","Zinc fingers C2H2-type|Lysine methyltransferases|PR/SET domain family"
"705",5.28784241248325e-92,1.77005078142673,0.909,0.189,1.22022251510463e-87,"21","DONSON","downstream neighbor of SON","14, 17, 21, 5","","This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008]","",""
"706",1.11152734057301e-89,0.950162726670666,0.773,0.119,2.56496049110627e-85,"21","ACVR2B","activin A receptor type 2B","21, 5","","Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]","Signaling by NODAL; Regulation of signaling by NODAL; Signaling by Activin; Signaling by Activin; Signaling by BMP","Type 2 receptor serine/threonine kinases"
"707",7.60295215474843e-83,0.799309704863817,0.727,0.115,1.75445723922975e-78,"21","BDH1","3-hydroxybutyrate dehydrogenase 1","21, 5","","This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]","Utilization of Ketone Bodies; Synthesis of Ketone Bodies","Short chain dehydrogenase/reductase superfamily"
"708",2.84095756313953e-74,1.89732173271458,0.989,0.348,6.55579367270079e-70,"21","AC104389.1","AC104389.1","14, 17, 21, 5","","AC104389.1","AC104389.1","AC104389.1"
"709",2.61862569061044e-62,0.407036190279048,0.409,0.042,6.04274064365265e-58,"21","KRT1","keratin 1","21, 5","neutrophil granulocyte, wet stratified barrier epithelial cells","The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]","Neutrophil degranulation; Keratinization; Formation of the cornified envelope","Keratins, type II"
"710",1.89913137997289e-60,0.513733142754838,0.727,0.138,4.38243557242544e-56,"21","MT1M","metallothionein 1M","21, 22, 8","adrenal gland secreting steroid hormones mineralocorticoids glucocorticoid","This gene encodes a member of the metallothionein superfamily, type 1 family. Metallothioneins have a high content of cysteine residues that bind various heavy metals. These genes are transcriptionally regulated by both heavy metals and glucocorticoids. [provided by RefSeq, Oct 2011]","Metallothioneins bind metals","Metallothioneins"
"711",2.77048310466981e-59,2.67212843797368,1,0.575,6.39316681233605e-55,"21","HBG1","hemoglobin subunit gamma 1","17, 21, 22, 3, 5","megakaryocyte","The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]","Factors involved in megakaryocyte development and platelet production","Hemoglobin subunits"
"712",1.57136517347478e-50,2.17544447776617,1,0.864,3.62608227431041e-46,"21","HBA2","hemoglobin subunit alpha 2","14, 17, 21, 22, 3, 5","erythrocyte","The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Scavenging of heme from plasma","Hemoglobin subunits"
"713",7.19335444376197e-48,2.00030396674909,1,0.84,1.65993847144251e-43,"21","HBA1","hemoglobin subunit alpha 1","14, 17, 21, 22, 3, 5","erythrocyte","The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Scavenging of heme from plasma","Hemoglobin subunits"
"714",7.9076710628493e-46,2.12839312297996,1,0.861,1.8247741744631e-41,"21","HBG2","hemoglobin subunit gamma 2","14, 17, 21, 22, 3, 5","megakaryocyte","The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]","Factors involved in megakaryocyte development and platelet production","Hemoglobin subunits"
"715",2.48187231913194e-44,1.38598653982483,1,0.583,5.72716856362886e-40,"21","SLC25A37","solute carrier family 25 member 37","14, 17, 21, 22, 3, 5","","SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011]","Mitochondrial iron-sulfur cluster biogenesis","Solute carriers"
"716",2.01869254891603e-41,1.00535406256882,0.955,0.415,4.65833492587862e-37,"21","SNCA","synuclein alpha","17, 21, 5","","Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Alternatively spliced transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2016]","Amyloid fiber formation","Parkinson disease associated genes"
"717",7.86450752597381e-37,0.909403522206313,0.818,0.251,1.81481375669372e-32,"21","ALAS2","5'-aminolevulinate synthase 2","17, 21, 22, 3, 5","erythrocyte","The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]","Heme biosynthesis",""
"718",1.4376855693293e-31,0.397513911352142,0.602,0.15,3.31760321978429e-27,"21","MMP9","matrix metallopeptidase 9","1, 21","neutrophil granulocyte, progenitor","Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008]","Signaling by SCF-KIT; Collagen degradation; Collagen degradation; Degradation of the extracellular matrix; Degradation of the extracellular matrix; Activation of Matrix Metalloproteinases; Assembly of collagen fibrils and other multimeric structures; EPH-ephrin mediated repulsion of cells; Interleukin-4 and Interleukin-13 signaling; Neutrophil degranulation","M10 matrix metallopeptidases"
"719",1.60854448370427e-28,0.599798511713697,0.75,0.264,3.71187725059597e-24,"21","FAM210B","family with sequence similarity 210 member B","14, 17, 21, 22, 3, 5","","Not available","",""
"720",3.63474778181032e-26,0.712777519544138,0.705,0.254,8.38754398130549e-22,"21","BPGM","bisphosphoglycerate mutase","14, 17, 21, 5","erythrocyte","2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]","Glycolysis","Phosphoglycerate mutases|Bisphosphoglycerate phosphatases"
"721",6.53138698669084e-24,0.413303611469956,0.92,0.569,1.50718286104878e-19,"21","MT1X","metallothionein 1X","14, 15, 21, 22, 3","","Not available","Metallothioneins bind metals","Metallothioneins"
"722",9.01045020471461e-24,0.40566736213769,0.67,0.213,2.07925148923994e-19,"21","HBQ1","hemoglobin subunit theta 1","14, 17, 21, 22, 3, 5","erythrocyte","Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue. [provided by RefSeq, Jul 2008]","","Hemoglobin subunits"
"723",1.53831019343253e-19,0.360125342358793,0.977,0.827,3.54980460236491e-15,"21","MT2A","metallothionein 2A","15, 21, 22, 3","","This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions, altering the intracellular concentration of heavy metals in the cell. These proteins act as anti-oxidants, protect against hydroxyl free radicals, are important in homeostatic control of metal in the cell, and play a role in detoxification of heavy metals. The encoded protein interacts with the protein encoded by the homeobox containing 1 gene in some cell types, controlling intracellular zinc levels, affecting apoptotic and autophagy pathways. Some polymorphisms in this gene are associated with an increased risk of cancer. [provided by RefSeq, Sep 2017]","Metallothioneins bind metals; Metallothioneins bind metals; Interferon gamma signaling","Metallothioneins"
"724",8.9579823700965e-19,0.637214805520214,0.5,0.167,2.06714401172347e-14,"21","SMOX","spermine oxidase","","","Polyamines are ubiquitous polycationic alkylamines which include spermine, spermidine, putrescine, and agmatine. These molecules participate in a broad range of cellular functions which include cell cycle modulation, scavenging reactive oxygen species, and the control of gene expression. These molecules also play important roles in neurotransmission through their regulation of cell-surface receptor activity, involvement in intracellular signalling pathways, and their putative roles as neurotransmitters. This gene encodes an FAD-containing enzyme that catalyzes the oxidation of spermine to spermadine and secondarily produces hydrogen peroxide. Multiple transcript variants encoding different isoenzymes have been identified for this gene, some of which have failed to demonstrate significant oxidase activity on natural polyamine substrates. The characterized isoenzymes have distinctive biochemical characteristics and substrate specificities, suggesting the existence of additional levels of complexity in polyamine catabolism. [provided by RefSeq, Jul 2012]","PAOs oxidise polyamines to amines; Interconversion of polyamines",""
"725",2.16531927852011e-16,0.250497063738409,0.352,0.096,4.99669076711301e-12,"21","GMPR","guanosine monophosphate reductase","21, 5","","This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides.[provided by RefSeq, Oct 2009]","Purine salvage",""
"726",8.55436748215698e-15,0.550730870545973,0.83,0.596,1.97400584018254e-10,"21","SLC25A39","solute carrier family 25 member 39","17, 21, 22, 3, 5","","This gene encodes a member of the SLC25 transporter or mitochondrial carrier family of proteins. Members of this family are encoded by the nuclear genome while their protein products are usually embedded in the inner mitochondrial membrane and exhibit wide-ranging substrate specificity. Although the encoded protein is currently considered an orphan transporter, this protein is related to other carriers known to transport amino acids. This protein may play a role in iron homeostasis. [provided by RefSeq, Mar 2016]","","Solute carriers"
"727",8.55599951897166e-14,0.304853307309333,0.466,0.171,1.9743824489979e-09,"21","MTRNR2L12","MT-RNR2 like 12","18, 21","","Not available","",""
"728",9.9697024541584e-14,0.337725673543209,0.398,0.138,2.30060853832159e-09,"21","FAM46C","FAM46C","21, 5","","FAM46C","FAM46C","FAM46C"
"729",1.89923193750408e-12,0.363347677927723,0.557,0.267,4.38266761898442e-08,"21","DCAF12","DDB1 and CUL4 associated factor 12","21, 5","","This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 2009]","","WD repeat domain containing|DDB1 and CUL4 associated factors"
"730",1.37579585515343e-11,0.2961447589578,0.58,0.273,3.17478651535206e-07,"21","MYO1F","myosin IF","","","Myosins are molecular motors that use the energy from ATP hydrolysis to generate force on actin filaments. The protein encoded by this gene is an unconventional myosin that may be involved in the intracellular movement of membrane-enclosed compartments. There is evidence to suggest that mutations in this gene can result in hearing loss. [provided by RefSeq, Jan 2017]","","Myosins, class I"
"731",1.74060555049639e-11,0.477830194310579,0.705,0.474,4.01662136832546e-07,"21","ADIPOR1","adiponectin receptor 1","14, 21, 5","adipocytes","This gene encodes a protein which acts as a receptor for adiponectin, a hormone secreted by adipocytes which regulates fatty acid catabolism and glucose levels. Binding of adiponectin to the encoded protein results in activation of an AMP-activated kinase signaling pathway which affects levels of fatty acid oxidation and insulin sensitivity. A pseudogene of this gene is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2014]","AMPK inhibits chREBP transcriptional activation activity; AMPK inhibits chREBP transcriptional activation activity","Adiponectin receptors|Progestin and adipoQ receptor family"
"732",2.33113261415629e-11,0.297323089242718,0.534,0.249,5.37932162042706e-07,"21","R3HDM4","R3H domain containing 4","21, 5","","Not available","",""
"733",6.58838386357963e-10,0.328666915061415,0.568,0.306,1.52033546035964e-05,"21","STRADB","STE20-related kinase adaptor beta","17, 21, 3, 5","","This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]","Energy dependent regulation of mTOR by LKB1-AMPK",""
"734",1.40250466609889e-09,0.324016506632622,0.591,0.323,3.2364197674898e-05,"21","PCGF5","polycomb group ring finger 5","","","Not available","RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known","Ring finger proteins|Polycomb group ring fingers"
"735",4.95569544123646e-08,-0.251120777176613,0.023,0.286,0.00114357628001972,"21","MTX2","metaxin 2","","","The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009]","Mitochondrial protein import; Cristae formation",""
"736",5.54445056768302e-08,-0.250603364884818,0.034,0.307,0.00127943741299853,"21","UBQLN1","ubiquilin 1","","","This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","Cargo recognition for clathrin-mediated endocytosis","Ubiquilin family"
"737",5.78096852405415e-08,-0.250420282279709,0.011,0.27,0.00133401629661074,"21","TMEM60","transmembrane protein 60","","","Not available","",""
"738",7.80566833232409e-08,-0.250286568549981,0.023,0.28,0.00180123602436711,"21","MRPS2","mitochondrial ribosomal protein S2","","","Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S2 family. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]","Mitochondrial translation initiation; Mitochondrial translation elongation; Mitochondrial translation elongation; Mitochondrial translation termination","Mitochondrial ribosomal proteins"
"739",1.22326898989912e-07,-0.250613970595221,0.011,0.26,0.00282281552109122,"21","TROVE2","TROVE domain family member 2","","","Not available","",""
"740",1.22386741060463e-07,-0.250265590152246,0.034,0.291,0.00282419643671124,"21","BCCIP","BRCA2 and CDKN1A interacting protein","","","This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]","",""
"741",1.50096163619801e-07,-0.250152199709603,0.023,0.272,0.00346361907169053,"21","ATF6B","activating transcription factor 6 beta","","","The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]","","Basic leucine zipper proteins"
"742",2.59064082856413e-07,-0.251091234495914,0.011,0.257,0.00597816277599459,"21","CPQ","carboxypeptidase Q","","","This gene encodes a metallopeptidase that belongs to the peptidase M28 family. The encoded protein may catalyze the cleavage of dipeptides with unsubstituted terminals into amino acids. [provided by RefSeq, Jul 2013]","","M14 carboxypeptidases"
"743",3.55396160373938e-07,-0.251307714824593,0.023,0.261,0.00820112179678899,"21","RHBDD2","rhomboid domain containing 2","","","The protein encoded by this gene is a member of the rhomboid family of membrane-bound proteases and is overexpressed in some breast cancers. Members of this family are involved in intramembrane proteolysis. In mouse, the orthologous protein associates with the Golgi body. [provided by RefSeq, Sep 2016]","","Rhomboid family"
"744",6.51646287252764e-07,-0.251224430511035,0.034,0.265,0.0150373897246448,"21","ADPGK","ADP dependent glucokinase","","","ADPGK (EC 2.7.1.147) catalyzes the ADP-dependent phosphorylation of glucose to glucose-6-phosphate and may play a role in glycolysis, possibly during ischemic conditions (Ronimus and Morgan, 2004 [PubMed 14975750]).[supplied by OMIM, Mar 2008]","Glycolysis",""
"745",8.67180809839847e-07,-0.250952585518071,0.045,0.276,0.0200110643678643,"21","ATP6V1H","ATPase H+ transporting V1 subunit H","","gastric gland zymogenic cell","This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]","ROS, RNS production in phagocytes; Nef Mediated CD4 Down-regulation; Nef Mediated CD8 Down-regulation; Insulin receptor recycling; Transferrin endocytosis and recycling; Ion channel transport","V-type ATPases|Armadillo-like helical domain containing"
"746",9.89210290845285e-07,0.340231299058932,0.807,0.739,0.0228270166715458,"21","FKBP8","FK506 binding protein 8","21, 5","","The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008]","Ub-specific processing proteases","Tetratricopeptide repeat domain containing|FKBP prolyl isomerases"
"747",1.53431912450793e-06,-0.250722636405121,0.08,0.309,0.035405948117145,"21","CDC26","cell division cycle 26","","cdc, conventional dendritic cell","The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc26, a component of cell cycle anaphase-promoting complex (APC). APC is composed of a group of highly conserved proteins and functions as a cell cycle-regulated ubiquitin-protein ligase. APC thus is responsible for the cell cycle regulated proteolysis of various proteins. [provided by RefSeq, Jul 2008]","Inactivation of APC/C via direct inhibition of the APC/C complex; APC/C:Cdc20 mediated degradation of Cyclin B; Autodegradation of Cdh1 by Cdh1:APC/C; APC/C:Cdc20 mediated degradation of Securin; APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1; Cdc20:Phospho-APC/C mediated degradation of Cyclin A; Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase; Regulation of APC/C activators between G1/S and early anaphase; APC/C:Cdc20 mediated degradation of mitotic proteins; Phosphorylation of the APC/C; APC-Cdc20 mediated degradation of Nek2A; Separation of Sister Chromatids; Senescence-Associated Secretory Phenotype (SASP); CDK-mediated phosphorylation and removal of Cdc6; Antigen processing: Ubiquitination & Proteasome degradation","Anaphase promoting complex "
"748",6.81001820093784e-06,-0.251276024649188,0.102,0.321,0.157147980004842,"21","CHP1","calcineurin like EF-hand protein 1","","","This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a role in the mitogenic regulation of NHE1. The protein shares similarity with calcineurin B and calmodulin and it is also known to be an endogenous inhibitor of calcineurin activity. [provided by RefSeq, Jul 2008]","Hyaluronan uptake and degradation","EF-hand domain containing"
"749",0.00012528240119983,-0.250968145349406,0.659,0.421,1,"21","AHSP","alpha hemoglobin stabilizing protein","17, 21, 22, 3, 5","","This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]","",""
"750",0.00209687378420801,0.295422590644466,0.682,0.624,1,"21","BNIP3L","BCL2 interacting protein 3 like","17, 21, 5","","This gene encodes a protein that belongs to the pro-apoptotic subfamily within the Bcl-2 family of proteins. The encoded protein binds to Bcl-2 and possesses the BH3 domain. The protein directly targets mitochondria and causes apoptotic changes, including loss of membrane potential and the release of cytochrome c. [provided by RefSeq, Feb 2015]","TP53 Regulates Transcription of Genes Involved in Cytochrome C Release",""
"751",7.09962475201047e-80,0.850196074116227,0.9,0.104,1.63830940777394e-75,"22","C17orf99","chromosome 17 open reading frame 99","22, 3","","Not available","",""
"752",2.80119782503044e-75,0.958131665757834,0.92,0.117,6.46404410104025e-71,"22","RP11-797H7.5","RP11-797H7.5","22, 3","","RP11-797H7.5","RP11-797H7.5","RP11-797H7.5"
"753",2.15424253732339e-61,0.845824351769652,0.9,0.129,4.97113007912745e-57,"22","GYPE","glycophorin E (MNS blood group)","22, 3","","The protein encoded by this gene is a sialoglycoprotein and a type I membrane protein. It is a member of a gene family with GPA and GPB genes. This encoded protein might carry the M blood group antigen. GYPA, GYPB, and GYPE are organized in tandem on chromosome 4. This gene might have derived from an ancestral gene common to the GPB gene by gene duplication. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]","","Blood group antigens"
"754",8.18211155644803e-52,0.655032440120524,0.7,0.094,1.88810406276595e-47,"22","ST8SIA1","ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1","","","Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]","Sialic acid metabolism","Sialyltransferases"
"755",8.27935499604924e-47,1.0458640102674,0.92,0.198,1.91054395888832e-42,"22","SLC39A8","solute carrier family 39 member 8","22, 3","","This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008]","Zinc influx into cells by the SLC39 gene family","Solute carriers"
"756",2.9992835765004e-42,0.708213186133003,0.9,0.174,6.92114678113232e-38,"22","SLC4A1","solute carrier family 4 member 1 (Diego blood group)","17, 22, 3","erythrocyte","The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Bicarbonate transporters; Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4),  distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)","Blood group antigens|CD molecules|Solute carriers"
"757",1.51990179527403e-40,1.39808004823394,1,0.264,3.50732538277436e-36,"22","GYPA","glycophorin A (MNS blood group)","17, 22, 3, 5","erythrocyte","Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. In addition to the M or N and S or s antigens that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008]","Cell surface interactions at the vascular wall","Blood group antigens|CD molecules"
"758",1.89270085263968e-40,1.53671920936373,1,0.297,4.36759648755132e-36,"22","GYPB","glycophorin B (MNS blood group)","17, 22, 3","erythrocyte","Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. GYPB gene consists of 5 exons and has 97% sequence homology with GYPA from the 5' UTR to the coding sequence encoding the first 45 amino acids. In addition to the M or N and S or s antigens, that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta; also, Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]","Cell surface interactions at the vascular wall","Blood group antigens|CD molecules"
"759",1.29839750545877e-39,0.956435428522332,0.92,0.201,2.99618208359666e-35,"22","HEMGN","hemogen","14, 17, 22, 3, 5","","Not available","",""
"760",1.95155118041519e-39,0.470068195939468,0.56,0.075,4.5033995039261e-35,"22","CTA-363E6.6","CTA-363E6.6","","","CTA-363E6.6","CTA-363E6.6","CTA-363E6.6"
"761",1.37789355880661e-37,1.13957159377875,0.98,0.252,3.17962717630213e-33,"22","ALAS2","5'-aminolevulinate synthase 2","17, 21, 22, 3, 5","erythrocyte","The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]","Heme biosynthesis",""
"762",5.40677709991911e-35,1.63072514526359,1,0.326,1.24766788357733e-30,"22","HBM","hemoglobin subunit mu","17, 22, 3, 5","","The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. This gene has an ORF encoding a 141 aa polypeptide which is similar to the delta globins found in reptiles and birds. This locus was originally described as a pseudogene; however, it is currently thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]","","Hemoglobin subunits"
"763",1.33792724641021e-32,0.883277851355558,0.98,0.321,3.0874009138162e-28,"22","HMBS","hydroxymethylbilane synthase","14, 17, 22, 3","","This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]","Heme biosynthesis",""
"764",4.44485270502023e-32,0.486322439120542,0.54,0.084,1.02569421021047e-27,"22","CTSE","cathepsin E","22, 3","","This gene encodes a member of the A1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme, an aspartic endopeptidase, may be involved in antigen processing and the maturation of secretory proteins. Elevated expression of this gene has been observed in neurodegeneration. [provided by RefSeq, Nov 2015]","MHC class II antigen presentation","Cathepsins"
"765",1.92567127357027e-31,1.52788468332425,1,0.46,4.44367903089075e-27,"22","MT1F","metallothionein 1F","22, 3, 8","","Not available","Metallothioneins bind metals","Metallothioneins"
"766",2.66261028593077e-31,1.49955576524719,1,0.42,6.14423949581385e-27,"22","AHSP","alpha hemoglobin stabilizing protein","17, 21, 22, 3, 5","","This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]","",""
"767",1.6679418783579e-30,0.468846114137788,0.66,0.123,3.84894267849868e-26,"22","KLF1","Kruppel like factor 1","14, 17, 22, 3","erythrocyte","This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]","","Zinc fingers C2H2-type|Kruppel like factors"
"768",8.09864336516515e-29,0.914095910262908,0.96,0.362,1.86884294294551e-24,"22","SMIM1","small integral membrane protein 1 (Vel blood group)","22, 3","erythrocyte","This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013]","","Blood group antigens"
"769",8.53739437538298e-29,1.76696460230796,0.98,0.494,1.97008912606338e-24,"22","MT1E","metallothionein 1E","14, 22, 3, 8","","Not available","Metallothioneins bind metals","Metallothioneins"
"770",2.94908855154693e-28,2.11332025380804,1,0.891,6.8053167415497e-24,"22","HBE1","hemoglobin subunit epsilon 1","14, 22, 3","megakaryocyte","The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order:  5'-epsilon - G-gamma - A-gamma - delta - beta-3' [provided by RefSeq, Jul 2008]","Factors involved in megakaryocyte development and platelet production","Hemoglobin subunits"
"771",9.70521507572032e-28,1.62905088236297,1,0.57,2.23957543087322e-23,"22","MT1X","metallothionein 1X","14, 15, 21, 22, 3","","Not available","Metallothioneins bind metals","Metallothioneins"
"772",1.0746095015696e-27,1.22459710652679,1,0.879,2.47976888582201e-23,"22","GYPC","glycophorin C (Gerbich blood group)","22, 3","erythrocyte","Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]","Cell surface interactions at the vascular wall","Blood group antigens|CD molecules"
"773",1.78656515879816e-27,1.64012054524636,1,0.827,4.12267776044262e-23,"22","MT2A","metallothionein 2A","15, 21, 22, 3","","This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions, altering the intracellular concentration of heavy metals in the cell. These proteins act as anti-oxidants, protect against hydroxyl free radicals, are important in homeostatic control of metal in the cell, and play a role in detoxification of heavy metals. The encoded protein interacts with the protein encoded by the homeobox containing 1 gene in some cell types, controlling intracellular zinc levels, affecting apoptotic and autophagy pathways. Some polymorphisms in this gene are associated with an increased risk of cancer. [provided by RefSeq, Sep 2017]","Metallothioneins bind metals; Metallothioneins bind metals; Interferon gamma signaling","Metallothioneins"
"774",3.76697451301911e-27,0.763949036799483,0.9,0.271,8.6926703862429e-23,"22","MYL4","myosin light chain 4","17, 22, 3","","Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]","Striated Muscle Contraction","Myosin light chains|EF-hand domain containing"
"775",9.60553349662443e-27,0.563841704357562,0.82,0.229,2.21657290968105e-22,"22","SELENBP1","selenium binding protein 1","17, 22, 3, 5","","This gene encodes a member of the selenium-binding protein family. Selenium is an essential nutrient that exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. The effects of selenium in preventing cancer and neurologic diseases may be mediated by selenium-binding proteins, and decreased expression of this gene may be associated with several types of cancer. The encoded protein may play a selenium-dependent role in ubiquitination/deubiquitination-mediated protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]","",""
"776",2.20738855815159e-26,1.32020326856693,1,0.872,5.0937698367906e-22,"22","PRDX2","peroxiredoxin 2","14, 17, 22, 3","","This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein plays an antioxidant protective role in cells, and it may contribute to the antiviral activity of CD8(+) T-cells. The crystal structure of this protein has been resolved to 2.7 angstroms. This protein prevents hemolytic anemia from oxidative stress by stabilizing hemoglobin, thus making this gene a therapeutic target for patients with hemolytic anemia. This protein may have a proliferative effect and play a role in cancer development or progression. Related pseudogenes have been identified on chromosomes 5, 6, 10 and 13. [provided by RefSeq, Mar 2013]","Detoxification of Reactive Oxygen Species; TP53 Regulates Metabolic Genes; Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models","Peroxiredoxins"
"777",2.7987216047217e-26,1.5096043028876,1,0.742,6.4583299750558e-22,"22","MT1H","metallothionein 1H","22, 3, 8","","Not available","Metallothioneins bind metals","Metallothioneins"
"778",3.17279169727254e-26,0.844184976112778,0.92,0.33,7.32153412062611e-22,"22","HSF1","heat shock transcription factor 1","","","The product of this gene is a transcription factor that is rapidly induced after temperature stress and binds heat shock promoter elements (HSE). This protein plays a role in the regulation of lifespan. Expression of this gene is repressed by phosphorylation, which promotes binding by heat shock protein 90. [provided by RefSeq, Jul 2017]","Regulation of HSF1-mediated heat shock response; HSF1 activation; Attenuation phase; HSF1-dependent transactivation",""
"779",4.87158281983339e-26,2.09171830626597,1,0.902,1.12416645150475e-21,"22","HBZ","hemoglobin subunit zeta","22, 3","","Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human alpha-globin gene cluster that includes five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3'. [provided by RefSeq, Nov 2009]","","Hemoglobin subunits"
"780",5.77430665958455e-26,1.41953119537778,1,0.822,1.33247900476573e-21,"22","MT1G","metallothionein 1G","22, 3, 8","","Not available","Metallothioneins bind metals","Metallothioneins"
"781",5.67468373868705e-25,0.857274367935682,1,0.596,1.30949001953942e-20,"22","SLC25A39","solute carrier family 25 member 39","17, 21, 22, 3, 5","","This gene encodes a member of the SLC25 transporter or mitochondrial carrier family of proteins. Members of this family are encoded by the nuclear genome while their protein products are usually embedded in the inner mitochondrial membrane and exhibit wide-ranging substrate specificity. Although the encoded protein is currently considered an orphan transporter, this protein is related to other carriers known to transport amino acids. This protein may play a role in iron homeostasis. [provided by RefSeq, Mar 2016]","","Solute carriers"
"782",5.68954179567594e-25,1.23428612078936,1,0.584,1.31291866477018e-20,"22","SLC25A37","solute carrier family 25 member 37","14, 17, 21, 22, 3, 5","","SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011]","Mitochondrial iron-sulfur cluster biogenesis","Solute carriers"
"783",6.86525815436251e-24,1.54278580368799,1,0.576,1.58422697170069e-19,"22","HBG1","hemoglobin subunit gamma 1","17, 21, 22, 3, 5","megakaryocyte","The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]","Factors involved in megakaryocyte development and platelet production","Hemoglobin subunits"
"784",1.57242778951088e-23,0.951301152703465,0.62,0.14,3.6285343670753e-19,"22","MT1M","metallothionein 1M","21, 22, 8","adrenal gland secreting steroid hormones mineralocorticoids glucocorticoid","This gene encodes a member of the metallothionein superfamily, type 1 family. Metallothioneins have a high content of cysteine residues that bind various heavy metals. These genes are transcriptionally regulated by both heavy metals and glucocorticoids. [provided by RefSeq, Oct 2011]","Metallothioneins bind metals","Metallothioneins"
"785",1.64213282799997e-23,0.546626090174077,0.88,0.265,3.78938571389273e-19,"22","FAM210B","family with sequence similarity 210 member B","14, 17, 21, 22, 3, 5","","Not available","",""
"786",5.40078217500911e-23,0.613144480013315,0.78,0.214,1.2462844947051e-18,"22","HBQ1","hemoglobin subunit theta 1","14, 17, 21, 22, 3, 5","erythrocyte","Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue. [provided by RefSeq, Jul 2008]","","Hemoglobin subunits"
"787",2.94511991112134e-22,0.728671974394076,0.88,0.35,6.79615870690361e-18,"22","FAM213A","FAM213A","22, 3","","FAM213A","FAM213A","FAM213A"
"788",1.34433254922664e-20,0.455973921184036,0.6,0.148,3.10218179059538e-16,"22","ICAM4","intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)","","lymphoid","This gene encodes the Landsteiner-Wiener (LW) blood group antigen(s) that belongs to the immunoglobulin (Ig) superfamily, and that shares similarity with the intercellular adhesion molecule (ICAM) protein family. This ICAM protein contains 2 Ig-like C2-type domains and binds to the leukocyte adhesion LFA-1 protein. The molecular basis of the LW(A)/LW(B) blood group antigens is a single aa variation at position 100; Gln-100=LW(A) and Arg-100=LW(B). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; Integrin cell surface interactions","Blood group antigens|CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family"
"789",5.40989575879089e-18,0.521252908166131,0.86,0.331,1.24838754529859e-13,"22","UBAC1","UBA domain containing 1","22, 3","","Not available","Antigen processing: Ubiquitination & Proteasome degradation",""
"790",1.07207051712044e-17,0.926511085234651,1,0.84,2.47390992530712e-13,"22","HBA1","hemoglobin subunit alpha 1","14, 17, 21, 22, 3, 5","erythrocyte","The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Scavenging of heme from plasma","Hemoglobin subunits"
"791",1.6757358893512e-17,0.503106017913624,0.82,0.309,3.86692813826683e-13,"22","TUBB6","tubulin beta 6 class V","22, 3","","Not available","Translocation of SLC2A4 (GLUT4) to the plasma membrane; Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane; Gap junction assembly; MHC class II antigen presentation; Separation of Sister Chromatids; Resolution of Sister Chromatid Cohesion; HSP90 chaperone cycle for steroid hormone receptors (SHR); Recruitment of NuMA to mitotic centrosomes; Prefoldin mediated transfer of substrate  to CCT/TriC; Formation of tubulin folding intermediates by CCT/TriC; Post-chaperonin tubulin folding pathway; Recycling pathway of L1; Recycling pathway of L1; Hedgehog 'off' state; Cilium Assembly; Intraflagellar transport; RHO GTPases activate IQGAPs; RHO GTPases Activate Formins; COPI-mediated anterograde transport; COPI-dependent Golgi-to-ER retrograde traffic; COPI-independent Golgi-to-ER retrograde traffic; Mitotic Prometaphase; The role of GTSE1 in G2/M progression after G2 checkpoint; Carboxyterminal post-translational modifications of tubulin; Carboxyterminal post-translational modifications of tubulin; Kinesins","Tubulins"
"792",3.42907914894005e-17,0.669084122669476,1,0.865,7.91294304409406e-13,"22","HBA2","hemoglobin subunit alpha 2","14, 17, 21, 22, 3, 5","erythrocyte","The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Scavenging of heme from plasma","Hemoglobin subunits"
"793",4.269761251787e-17,0.694875673194853,0.88,0.464,9.85290106462367e-13,"22","UROS","uroporphyrinogen III synthase","22, 3","","The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]","Heme biosynthesis",""
"794",5.58921932152546e-17,0.497209802970915,1,0.861,1.28976825063522e-12,"22","HBG2","hemoglobin subunit gamma 2","14, 17, 21, 22, 3, 5","megakaryocyte","The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]","Factors involved in megakaryocyte development and platelet production","Hemoglobin subunits"
"795",1.48161208998985e-16,0.514240923978017,0.82,0.321,3.41896805886058e-12,"22","NARF","nuclear prelamin A recognition factor","","","Several proteins have been found to be prenylated and methylated at their carboxyl-terminal ends. Prenylation was initially believed to be important only for membrane attachment. However, another role for prenylation appears to be its importance in protein-protein interactions. The only nuclear proteins known to be prenylated in mammalian cells are prelamin A- and B-type lamins. Prelamin A is farnesylated and carboxymethylated on the cysteine residue of a carboxyl-terminal CaaX motif. This post-translationally modified cysteine residue is removed from prelamin A when it is endoproteolytically processed into mature lamin A. The protein encoded by this gene binds to the prenylated prelamin A carboxyl-terminal tail domain. It may be a component of a prelamin A endoprotease complex. The encoded protein is located in the nucleus, where it partially colocalizes with the nuclear lamina. It shares limited sequence similarity with iron-only bacterial hydrogenases. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, including one with a novel exon that is generated by RNA editing. [provided by RefSeq, Jul 2008]","",""
"796",3.26098942220315e-12,0.551996999977139,1,0.884,7.525059190676e-08,"22","BLVRB","biliverdin reductase B","17, 22, 3","","The final step in heme metabolism in mammals is catalyzed by the cytosolic biliverdin reductase enzymes A and B (EC 1.3.1.24).[supplied by OMIM, Jul 2009]","Heme degradation","Short chain dehydrogenase/reductase superfamily"
"797",8.54140576078578e-12,0.671345928090732,0.58,0.207,1.97101479335893e-07,"22","BEX1","brain expressed X-linked 1","22, 3","","Not available","","Brain expressed X-linked family"
"798",2.33011906864141e-11,0.524395129279037,0.86,0.485,5.37698276279692e-07,"22","UROD","uroporphyrinogen decarboxylase","17, 22, 3","","This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]","Heme biosynthesis",""
"799",4.9565598882973e-11,0.561445769452513,0.48,0.16,1.14377575982348e-06,"22","HIST3H2A","histone cluster 3 H2A","14, 22","","Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]","HDACs deacetylate histones; HATs acetylate histones; HATs acetylate histones; RMTs methylate histone arginines; UCH proteinases; Ub-specific processing proteases; Metalloprotease DUBs","Histones"
"800",0.000528293594394039,0.398528889383809,0.96,0.775,1,"22","RGS10","regulator of G protein signaling 10","","","Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 10 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. This protein associates specifically with the activated forms of the two related G-protein subunits, G-alphai3 and G-alphaz but fails to interact with the structurally and functionally distinct G-alpha subunits. Regulator of G protein signaling 10 protein is localized in the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","G alpha (i) signalling events","Regulators of G-protein signaling"
"801",0,3.66528035927462,1,0.893,0,"3","HBZ","hemoglobin subunit zeta","22, 3","","Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human alpha-globin gene cluster that includes five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3'. [provided by RefSeq, Nov 2009]","","Hemoglobin subunits"
"802",0,3.06592150290668,0.999,0.882,0,"3","HBE1","hemoglobin subunit epsilon 1","14, 22, 3","megakaryocyte","The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order:  5'-epsilon - G-gamma - A-gamma - delta - beta-3' [provided by RefSeq, Jul 2008]","Factors involved in megakaryocyte development and platelet production","Hemoglobin subunits"
"803",0,2.12241217298035,0.999,0.235,0,"3","GYPB","glycophorin B (MNS blood group)","17, 22, 3","erythrocyte","Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. GYPB gene consists of 5 exons and has 97% sequence homology with GYPA from the 5' UTR to the coding sequence encoding the first 45 amino acids. In addition to the M or N and S or s antigens, that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta; also, Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]","Cell surface interactions at the vascular wall","Blood group antigens|CD molecules"
"804",0,2.02562621917651,1,0.369,0,"3","AHSP","alpha hemoglobin stabilizing protein","17, 21, 22, 3, 5","","This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]","",""
"805",0,2.01319765771926,1,0.538,0,"3","HBG1","hemoglobin subunit gamma 1","17, 21, 22, 3, 5","megakaryocyte","The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]","Factors involved in megakaryocyte development and platelet production","Hemoglobin subunits"
"806",0,1.97065801618235,0.998,0.2,0,"3","GYPA","glycophorin A (MNS blood group)","17, 22, 3, 5","erythrocyte","Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. In addition to the M or N and S or s antigens that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008]","Cell surface interactions at the vascular wall","Blood group antigens|CD molecules"
"807",0,1.72093146011174,1,0.861,0,"3","PRDX2","peroxiredoxin 2","14, 17, 22, 3","","This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein plays an antioxidant protective role in cells, and it may contribute to the antiviral activity of CD8(+) T-cells. The crystal structure of this protein has been resolved to 2.7 angstroms. This protein prevents hemolytic anemia from oxidative stress by stabilizing hemoglobin, thus making this gene a therapeutic target for patients with hemolytic anemia. This protein may have a proliferative effect and play a role in cancer development or progression. Related pseudogenes have been identified on chromosomes 5, 6, 10 and 13. [provided by RefSeq, Mar 2013]","Detoxification of Reactive Oxygen Species; TP53 Regulates Metabolic Genes; Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models","Peroxiredoxins"
"808",0,1.51110689273359,0.996,0.267,0,"3","HBM","hemoglobin subunit mu","17, 22, 3, 5","","The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. This gene has an ORF encoding a 141 aa polypeptide which is similar to the delta globins found in reptiles and birds. This locus was originally described as a pseudogene; however, it is currently thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]","","Hemoglobin subunits"
"809",0,1.31855112486816,0.999,0.812,0,"3","MT2A","metallothionein 2A","15, 21, 22, 3","","This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions, altering the intracellular concentration of heavy metals in the cell. These proteins act as anti-oxidants, protect against hydroxyl free radicals, are important in homeostatic control of metal in the cell, and play a role in detoxification of heavy metals. The encoded protein interacts with the protein encoded by the homeobox containing 1 gene in some cell types, controlling intracellular zinc levels, affecting apoptotic and autophagy pathways. Some polymorphisms in this gene are associated with an increased risk of cancer. [provided by RefSeq, Sep 2017]","Metallothioneins bind metals; Metallothioneins bind metals; Interferon gamma signaling","Metallothioneins"
"810",0,1.15689979995677,0.993,0.186,0,"3","ALAS2","5'-aminolevulinate synthase 2","17, 21, 22, 3, 5","erythrocyte","The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]","Heme biosynthesis",""
"811",0,1.15391605930571,1,0.826,0,"3","HBA1","hemoglobin subunit alpha 1","14, 17, 21, 22, 3, 5","erythrocyte","The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Scavenging of heme from plasma","Hemoglobin subunits"
"812",0,1.10558504505224,0.992,0.533,0,"3","MT1X","metallothionein 1X","14, 15, 21, 22, 3","","Not available","Metallothioneins bind metals","Metallothioneins"
"813",0,1.06612450886326,0.99,0.451,0,"3","MT1E","metallothionein 1E","14, 22, 3, 8","","Not available","Metallothioneins bind metals","Metallothioneins"
"814",0,1.05175615116606,0.998,0.869,0,"3","GYPC","glycophorin C (Gerbich blood group)","22, 3","erythrocyte","Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]","Cell surface interactions at the vascular wall","Blood group antigens|CD molecules"
"815",0,1.03183815245829,0.971,0.209,0,"3","MYL4","myosin light chain 4","17, 22, 3","","Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]","Striated Muscle Contraction","Myosin light chains|EF-hand domain containing"
"816",0,0.994804718106054,0.972,0.263,0,"3","HMBS","hydroxymethylbilane synthase","14, 17, 22, 3","","This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]","Heme biosynthesis",""
"817",0,0.988733957718007,0.913,0.06,0,"3","GYPE","glycophorin E (MNS blood group)","22, 3","","The protein encoded by this gene is a sialoglycoprotein and a type I membrane protein. It is a member of a gene family with GPA and GPB genes. This encoded protein might carry the M blood group antigen. GYPA, GYPB, and GYPE are organized in tandem on chromosome 4. This gene might have derived from an ancestral gene common to the GPB gene by gene duplication. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]","","Blood group antigens"
"818",0,0.970904783298426,0.893,0.146,0,"3","BEX1","brain expressed X-linked 1","22, 3","","Not available","","Brain expressed X-linked family"
"819",0,0.9541793402689,0.998,0.806,0,"3","MT1G","metallothionein 1G","22, 3, 8","","Not available","Metallothioneins bind metals","Metallothioneins"
"820",0,0.919218978431178,0.977,0.308,0,"3","SMIM1","small integral membrane protein 1 (Vel blood group)","22, 3","erythrocyte","This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013]","","Blood group antigens"
"821",0,0.897354335520593,1,0.853,0,"3","HBA2","hemoglobin subunit alpha 2","14, 17, 21, 22, 3, 5","erythrocyte","The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Scavenging of heme from plasma","Hemoglobin subunits"
"822",0,0.894519434993055,0.942,0.135,0,"3","HEMGN","hemogen","14, 17, 22, 3, 5","","Not available","",""
"823",0,0.885811387876419,0.997,0.547,0,"3","SLC25A37","solute carrier family 25 member 37","14, 17, 21, 22, 3, 5","","SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011]","Mitochondrial iron-sulfur cluster biogenesis","Solute carriers"
"824",0,0.878522257770608,0.987,0.414,0,"3","MT1F","metallothionein 1F","22, 3, 8","","Not available","Metallothioneins bind metals","Metallothioneins"
"825",0,0.864076136115525,0.956,0.204,0,"3","FAM210B","family with sequence similarity 210 member B","14, 17, 21, 22, 3, 5","","Not available","",""
"826",0,0.84592731316969,0.928,0.107,0,"3","SLC4A1","solute carrier family 4 member 1 (Diego blood group)","17, 22, 3","erythrocyte","The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Bicarbonate transporters; Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4),  distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)","Blood group antigens|CD molecules|Solute carriers"
"827",0,0.822020149322058,0.911,0.047,0,"3","RP11-797H7.5","RP11-797H7.5","22, 3","","RP11-797H7.5","RP11-797H7.5","RP11-797H7.5"
"828",0,0.818646144717572,1,0.849,0,"3","HBG2","hemoglobin subunit gamma 2","14, 17, 21, 22, 3, 5","megakaryocyte","The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]","Factors involved in megakaryocyte development and platelet production","Hemoglobin subunits"
"829",0,0.807788761110759,0.952,0.148,0,"3","HBQ1","hemoglobin subunit theta 1","14, 17, 21, 22, 3, 5","erythrocyte","Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue. [provided by RefSeq, Jul 2008]","","Hemoglobin subunits"
"830",0,0.787722099239104,0.993,0.561,0,"3","SLC25A39","solute carrier family 25 member 39","17, 21, 22, 3, 5","","This gene encodes a member of the SLC25 transporter or mitochondrial carrier family of proteins. Members of this family are encoded by the nuclear genome while their protein products are usually embedded in the inner mitochondrial membrane and exhibit wide-ranging substrate specificity. Although the encoded protein is currently considered an orphan transporter, this protein is related to other carriers known to transport amino acids. This protein may play a role in iron homeostasis. [provided by RefSeq, Mar 2016]","","Solute carriers"
"831",0,0.774588864362043,0.957,0.296,0,"3","FAM213A","FAM213A","22, 3","","FAM213A","FAM213A","FAM213A"
"832",0,0.73473852984918,0.917,0.135,0,"3","SLC39A8","solute carrier family 39 member 8","22, 3","","This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008]","Zinc influx into cells by the SLC39 gene family","Solute carriers"
"833",0,0.720119466839243,0.969,0.442,0,"3","UROD","uroporphyrinogen decarboxylase","17, 22, 3","","This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]","Heme biosynthesis",""
"834",0,0.708566126135908,0.958,0.42,0,"3","UROS","uroporphyrinogen III synthase","22, 3","","The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]","Heme biosynthesis",""
"835",0,0.705139206383348,0.995,0.719,0,"3","MT1H","metallothionein 1H","22, 3, 8","","Not available","Metallothioneins bind metals","Metallothioneins"
"836",0,0.642255192467821,0.936,0.253,0,"3","TUBB6","tubulin beta 6 class V","22, 3","","Not available","Translocation of SLC2A4 (GLUT4) to the plasma membrane; Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane; Gap junction assembly; MHC class II antigen presentation; Separation of Sister Chromatids; Resolution of Sister Chromatid Cohesion; HSP90 chaperone cycle for steroid hormone receptors (SHR); Recruitment of NuMA to mitotic centrosomes; Prefoldin mediated transfer of substrate  to CCT/TriC; Formation of tubulin folding intermediates by CCT/TriC; Post-chaperonin tubulin folding pathway; Recycling pathway of L1; Recycling pathway of L1; Hedgehog 'off' state; Cilium Assembly; Intraflagellar transport; RHO GTPases activate IQGAPs; RHO GTPases Activate Formins; COPI-mediated anterograde transport; COPI-dependent Golgi-to-ER retrograde traffic; COPI-independent Golgi-to-ER retrograde traffic; Mitotic Prometaphase; The role of GTSE1 in G2/M progression after G2 checkpoint; Carboxyterminal post-translational modifications of tubulin; Carboxyterminal post-translational modifications of tubulin; Kinesins","Tubulins"
"837",0,0.579972821409629,0.728,0.026,0,"3","CTSE","cathepsin E","22, 3","","This gene encodes a member of the A1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme, an aspartic endopeptidase, may be involved in antigen processing and the maturation of secretory proteins. Elevated expression of this gene has been observed in neurodegeneration. [provided by RefSeq, Nov 2015]","MHC class II antigen presentation","Cathepsins"
"838",0,0.577324990886181,0.818,0.072,0,"3","RFESD","Rieske Fe-S domain containing","17, 3","","Not available","",""
"839",0,0.549838768064801,0.765,0.049,0,"3","TMEM56","transmembrane protein 56","","","Not available","","TLC domain containing"
"840",0,0.544336211731173,0.791,0.043,0,"3","C17orf99","chromosome 17 open reading frame 99","22, 3","","Not available","",""
"841",0,0.536212045472934,0.905,0.253,0,"3","STRADB","STE20-related kinase adaptor beta","17, 21, 3, 5","","This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]","Energy dependent regulation of mTOR by LKB1-AMPK",""
"842",0,0.533671863479921,0.879,0.283,0,"3","UBAC1","UBA domain containing 1","22, 3","","Not available","Antigen processing: Ubiquitination & Proteasome degradation",""
"843",0,0.514652129467272,0.85,0.174,0,"3","SELENBP1","selenium binding protein 1","17, 22, 3, 5","","This gene encodes a member of the selenium-binding protein family. Selenium is an essential nutrient that exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. The effects of selenium in preventing cancer and neurologic diseases may be mediated by selenium-binding proteins, and decreased expression of this gene may be associated with several types of cancer. The encoded protein may play a selenium-dependent role in ubiquitination/deubiquitination-mediated protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]","",""
"844",0,0.4994360402782,0.783,0.051,0,"3","RHAG","Rh associated glycoprotein","17, 3","erythrocyte","The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Rhesus glycoproteins mediate ammonium transport.; Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN)","Blood group antigens|CD molecules|Solute carriers"
"845",0,0.476786293226327,0.789,0.064,0,"3","KLF1","Kruppel like factor 1","14, 17, 22, 3","erythrocyte","This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]","","Zinc fingers C2H2-type|Kruppel like factors"
"846",4.98851423822651e-262,0.497192222809912,0.983,0.642,1.15114954561315e-257,"3","TMEM14B","transmembrane protein 14B","","","Not available","",""
"847",8.68698654285884e-245,0.553820311168311,1,0.874,2.00460901463011e-240,"3","BLVRB","biliverdin reductase B","17, 22, 3","","The final step in heme metabolism in mammals is catalyzed by the cytosolic biliverdin reductase enzymes A and B (EC 1.3.1.24).[supplied by OMIM, Jul 2009]","Heme degradation","Short chain dehydrogenase/reductase superfamily"
"848",5.79497467515271e-176,0.510515294435399,0.972,0.705,1.33724835603824e-171,"3","HMGB2","high mobility group box 2","10, 3, 9","","This gene encodes a member of the non-histone chromosomal high mobility group protein family. The proteins of this family are chromatin-associated and ubiquitously distributed in the nucleus of higher eukaryotic cells. In vitro studies have demonstrated that this protein is able to efficiently bend DNA and form DNA circles.  These studies suggest a role in facilitating cooperative interactions between cis-acting proteins by promoting DNA flexibility. This protein was also reported to be involved in the final ligation step in DNA end-joining processes of DNA double-strand breaks repair and V(D)J recombination. [provided by RefSeq, Jul 2008]","Activation of DNA fragmentation factor","Canonical high mobility group|SET complex"
"849",3.76909625453496e-154,0.549505513329777,0.823,0.432,8.69756651696488e-150,"3","PTTG1","pituitary tumor-transforming 1","10, 3","cdc, conventional dendritic cell, fibroblasts","The encoded protein is a homolog of yeast securin proteins, which prevent separins from promoting sister chromatid separation. It is an anaphase-promoting complex (APC) substrate that associates with a separin until activation of the APC. The gene product has transforming activity in vitro and tumorigenic activity in vivo, and the gene is highly expressed in various tumors. The gene product contains 2 PXXP motifs, which are required for its transforming and tumorigenic activities, as well as for its stimulation of basic fibroblast growth factor expression. It also contains a destruction box (D box) that is required for its degradation by the APC. The acidic C-terminal region of the encoded protein can act as a transactivation domain. The gene product is mainly a cytosolic protein, although it partially localizes in the nucleus. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]","APC/C:Cdc20 mediated degradation of Securin; APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1; Separation of Sister Chromatids",""
"850",2.61875341492702e-86,0.770847677875812,0.887,0.625,6.04303538028559e-82,"3","HIST1H4C","histone cluster 1 H4 family member c","10, 3, 7","hematopoietic stem cell, megakaryocyte","Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]","Meiotic synapsis; Packaging Of Telomere Ends; Pre-NOTCH Transcription and Translation; Formation of the beta-catenin:TCF transactivating complex; Formation of the beta-catenin:TCF transactivating complex; PRC2 methylates histones and DNA; Condensation of Prophase Chromosomes; Oxidative Stress Induced Senescence; Senescence-Associated Secretory Phenotype (SASP); DNA Damage/Telomere Stress Induced Senescence; HDACs deacetylate histones; PKMTs methylate histone lysines; HDMs demethylate histones; HATs acetylate histones; HATs acetylate histones; RMTs methylate histone arginines; SIRT1 negatively regulates rRNA expression; ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression; NoRC negatively regulates rRNA expression; NoRC negatively regulates rRNA expression; SUMOylation of chromatin organization proteins; B-WICH complex positively regulates rRNA expression; DNA methylation; Transcriptional regulation by small RNAs; Activation of anterior HOX genes in hindbrain development during early embryogenesis; Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3; Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks; Nonhomologous End-Joining (NHEJ); Processing of DNA double-strand break ends; Deposition of new CENPA-containing nucleosomes at the centromere; G2/M DNA damage checkpoint; RNA Polymerase I Promoter Opening; RNA Polymerase I Chain Elongation; RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function; RUNX1 regulates transcription of genes involved in differentiation of HSCs; Estrogen-dependent gene expression; Meiotic recombination; Amyloid fiber formation","Histones"
"851",0,2.45751309633531,1,0.275,0,"4","COL1A1","collagen type I alpha 1 chain","16, 4","lymphoid, megakaryocyte, osteoblast","This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]","GPVI-mediated activation cascade; Collagen degradation; Collagen degradation; Extracellular matrix organization; Collagen biosynthesis and modifying enzymes; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; Assembly of collagen fibrils and other multimeric structures; Cell surface interactions at the vascular wall; Integrin cell surface interactions; Integrin cell surface interactions; Anchoring fibril formation; Crosslinking of collagen fibrils; Syndecan interactions; Non-integrin membrane-ECM interactions; ECM proteoglycans; ECM proteoglycans; Scavenging by Class A Receptors; GP1b-IX-V activation signalling; Platelet Adhesion to exposed collagen; Platelet Adhesion to exposed collagen; Platelet Aggregation (Plug Formation); MET activates PTK2 signaling; RUNX2 regulates osteoblast differentiation; Collagen chain trimerization","Collagens"
"852",0,2.42767270191019,1,0.33,0,"4","FRZB","frizzled related protein","18, 4, 6","","The protein encoded by this gene is a secreted protein that is involved in the regulation of bone development. Defects in this gene are a cause of female-specific osteoarthritis (OA) susceptibility. [provided by RefSeq, Apr 2010]","","Secreted frizzled-related proteins"
"853",0,2.26039024093935,1,0.419,0,"4","IGF2","insulin like growth factor 2","18, 4, 6","megakaryocyte","This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]","Platelet degranulation ; Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R); IRS-related events triggered by IGF1R; SHC-related events triggered by IGF1R; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)",""
"854",0,2.20725702661572,1,0.535,0,"4","SPARC","secreted protein acidic and cysteine rich","16, 4","megakaryocyte","This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene product has been associated with tumor suppression but has also been correlated with metastasis based on changes to cell shape which can promote tumor cell invasion. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2015]","Platelet degranulation ; ECM proteoglycans; Scavenging by Class H Receptors","SPARC family"
"855",0,2.18945987934699,1,0.353,0,"4","COL1A2","collagen type I alpha 2 chain","16, 4","lymphoid, megakaryocyte","This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]","GPVI-mediated activation cascade; Collagen degradation; Collagen degradation; Extracellular matrix organization; Collagen biosynthesis and modifying enzymes; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; Assembly of collagen fibrils and other multimeric structures; Cell surface interactions at the vascular wall; Integrin cell surface interactions; Integrin cell surface interactions; Anchoring fibril formation; Crosslinking of collagen fibrils; Syndecan interactions; Non-integrin membrane-ECM interactions; ECM proteoglycans; ECM proteoglycans; Scavenging by Class A Receptors; GP1b-IX-V activation signalling; Interleukin-4 and Interleukin-13 signaling; Platelet Adhesion to exposed collagen; Platelet Adhesion to exposed collagen; Platelet Aggregation (Plug Formation); MET activates PTK2 signaling; Collagen chain trimerization","Collagens"
"856",0,2.14794767180736,1,0.362,0,"4","COL3A1","collagen type III alpha 1 chain","16, 4, 6","lymphoid","This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]","Collagen degradation; Collagen degradation; Extracellular matrix organization; Collagen biosynthesis and modifying enzymes; Signaling by PDGF; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; Assembly of collagen fibrils and other multimeric structures; Integrin cell surface interactions; Syndecan interactions; Non-integrin membrane-ECM interactions; ECM proteoglycans; ECM proteoglycans; Scavenging by Class A Receptors; NCAM1 interactions; MET activates PTK2 signaling; Collagen chain trimerization","Collagens"
"857",0,2.0588737871197,0.999,0.376,0,"4","KRT18","keratin 18","16, 18, 4","","KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]","Keratinization; Formation of the cornified envelope","Keratins, type I"
"858",0,2.03286738527377,1,0.613,0,"4","TPM1","tropomyosin 1","","","This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]","Striated Muscle Contraction; Smooth Muscle Contraction","Tropomyosins"
"859",0,2.02320535914673,0.612,0.141,0,"4","TAGLN","transgelin","","smooth muscle cell","This gene encodes a shape change and transformation sensitive actin-binding protein which belongs to the calponin family. It is ubiquitously expressed in vascular and visceral smooth muscle, and is an early marker of smooth muscle differentiation. The encoded protein is thought to be involved in calcium-independent smooth muscle contraction. It acts as a tumor suppressor, and the loss of its expression is an early event in cell transformation and the development of some tumors, coinciding with cellular plasticity. The encoded protein has a domain architecture consisting of an N-terminal calponin homology (CH) domain and a C-terminal calponin-like (CLIK) domain. Mice with a knockout of the orthologous gene are viable and fertile but their vascular smooth muscle cells exhibit alterations in the distribution of the actin filament and changes in cytoskeletal organization. [provided by RefSeq, Aug 2017]","",""
"860",0,2.00949311425157,0.725,0.193,0,"4","ACTA2","actin, alpha 2, smooth muscle, aorta","4, 6","","This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017]","Smooth Muscle Contraction; NOTCH4 Intracellular Domain Regulates Transcription","Actins"
"861",0,1.98793802093201,1,0.369,0,"4","LUM","lumican","16, 4, 6","cdc, conventional dendritic cell","This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. [provided by RefSeq, Jul 2008]","Keratan sulfate biosynthesis; Keratan sulfate degradation; Integrin cell surface interactions; ECM proteoglycans; Defective CHST6 causes MCDC1; Defective ST3GAL3 causes MCT12 and EIEE15; Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)","Small leucine rich repeat proteoglycans"
"862",0,1.98263980078654,1,0.449,0,"4","MDK","midkine","16, 4","","This gene encodes a member of a small family of secreted growth factors that binds heparin and responds to retinoic acid. The encoded protein promotes cell growth, migration, and angiogenesis, in particular during tumorigenesis. This gene has been targeted as a therapeutic for a variety of different disorders. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]","NOTCH2 Activation and Transmission of Signal to the Nucleus",""
"863",0,1.94749019325485,0.993,0.351,0,"4","KRT8","keratin 8","16, 18, 20, 4","","This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]","Keratinization; Formation of the cornified envelope","Keratins, type II"
"864",0,1.93570645341183,0.997,0.261,0,"4","DCN","decorin","16, 4, 6","","This gene encodes a member of the small leucine-rich proteoglycan family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. This protein plays a role in collagen fibril assembly. Binding of this protein to multiple cell surface receptors mediates its role in tumor suppression, including a stimulatory effect on autophagy and inflammation and an inhibitory effect on angiogenesis and tumorigenesis. This gene and the related gene biglycan are thought to be the result of a gene duplication. Mutations in this gene are associated with congenital stromal corneal dystrophy in human patients. [provided by RefSeq, Nov 2015]","Degradation of the extracellular matrix; A tetrasaccharide linker sequence is required for GAG synthesis; Chondroitin sulfate biosynthesis; Dermatan sulfate biosynthesis; CS/DS degradation; ECM proteoglycans; ECM proteoglycans; Defective B4GALT7 causes EDS, progeroid type; Defective B3GAT3 causes JDSSDHD; Defective CHST3 causes SEDCJD; Defective CHST14 causes EDS, musculocontractural type; Defective CHSY1 causes TPBS; Defective B3GALT6 causes EDSP2 and SEMDJL1","Small leucine rich repeat proteoglycans"
"865",0,1.92627859792816,1,0.207,0,"4","COL6A2","collagen type VI alpha 2 chain","","","This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]","Collagen degradation; Collagen biosynthesis and modifying enzymes; Signaling by PDGF; Assembly of collagen fibrils and other multimeric structures; Integrin cell surface interactions; ECM proteoglycans; ECM proteoglycans; NCAM1 interactions; Collagen chain trimerization","Collagens"
"866",0,1.85983468518721,0.926,0.182,0,"4","CSRP2","cysteine and glycine rich protein 2","","","CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding activity, and may be involved in regulating ordered cell growth. Other genes in the family include CSRP1 and CSRP3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]","","LIM domain containing"
"867",0,1.79373586958183,0.994,0.302,0,"4","MEST","mesoderm specific transcript","","","This gene encodes a member of the alpha/beta hydrolase superfamily. It is imprinted, exhibiting preferential expression from the paternal allele in fetal tissues, and isoform-specific imprinting in lymphocytes. The loss of imprinting of this gene has been linked to certain types of cancer and may be due to promotor switching. The encoded protein may play a role in development. Alternatively spliced transcript variants encoding multiple isoforms have been identified for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3 and 4, and the long arm of chromosomes 6 and 15. [provided by RefSeq, Dec 2011]","",""
"868",0,1.74323050613825,0.997,0.203,0,"4","COL6A1","collagen type VI alpha 1 chain","","","The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]","Collagen degradation; Collagen biosynthesis and modifying enzymes; Signaling by PDGF; Assembly of collagen fibrils and other multimeric structures; Integrin cell surface interactions; ECM proteoglycans; ECM proteoglycans; NCAM1 interactions; Collagen chain trimerization","Collagens"
"869",0,1.70853785643692,0.996,0.273,0,"4","CALD1","caldesmon 1","4, 6","","This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of smooth muscle contraction. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]","Smooth Muscle Contraction",""
"870",0,1.69371405124419,0.977,0.161,0,"4","CRABP2","cellular retinoic acid binding protein 2","","","This gene encodes a member of the retinoic acid (RA, a form of vitamin A) binding protein family and lipocalin/cytosolic fatty-acid binding protein family. The protein is a cytosol-to-nuclear shuttling protein, which facilitates RA binding to its cognate receptor complex and transfer to the nucleus. It is involved in the retinoid signaling pathway, and is associated with increased circulating low-density lipoprotein cholesterol. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2010]","Signaling by Retinoic Acid","Fatty acid binding protein family"
"871",0,1.67596961116848,0.948,0.271,0,"4","MYL9","myosin light chain 9","","megakaryocyte","Myosin, a structural component of muscle, consists of two heavy chains and four light chains. The protein encoded by this gene is a myosin light chain that may regulate muscle contraction by modulating the ATPase activity of myosin heads. The encoded protein binds calcium and is activated by myosin light chain kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","EPHA-mediated growth cone collapse; Sema4D induced cell migration and growth-cone collapse; Smooth Muscle Contraction; RHO GTPases activate PKNs; RHO GTPases activate CIT; RHO GTPases Activate ROCKs; RHO GTPases activate PAKs; RHO GTPases activate PAKs; RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function","Myosin light chains|EF-hand domain containing"
"872",0,1.63296994918831,0.978,0.253,0,"4","TPM2","tropomyosin 2","","","This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]","Striated Muscle Contraction; Smooth Muscle Contraction","Tropomyosins"
"873",0,1.63259390887056,0.833,0.141,0,"4","IGFBP7","insulin like growth factor binding protein 7","4, 6","neuron retina horizontal cell","This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011]","Senescence-Associated Secretory Phenotype (SASP); Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Post-translational protein phosphorylation","I-set domain containing"
"874",0,1.57647124115865,0.996,0.317,0,"4","MEG3","maternally expressed 3","4, 6","","This gene is a maternally expressed imprinted gene. Multiple alternatively spliced transcript variants have been transcribed from this gene and all of them are long non-coding RNAs (lncRNAs). This gene is expressed in many normal tissues, but its expression is lost in multiple cancer cell lines of various tissue origins. It inhibits tumor cell proliferation in vitro. It also interacts with the tumor suppressor p53, and regulates p53 target gene expression. Its deletion enhances angiogenesis in vivo. Many experimental evidences demonstrate that this gene is a lncRNA tumor suppressor. [provided by RefSeq, Mar 2012]","","Long non-coding RNAs (published)"
"875",0,1.55246854959207,0.983,0.176,0,"4","CTHRC1","collagen triple helix repeat containing 1","4, 6","","This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]","",""
"876",0,1.5433989505003,0.967,0.221,0,"4","SDC2","syndecan 2","4, 6","","The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-2 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-2 expression has been detected in several different tumor types. [provided by RefSeq, Jul 2008]","A tetrasaccharide linker sequence is required for GAG synthesis; HS-GAG biosynthesis; HS-GAG biosynthesis; HS-GAG degradation; Cell surface interactions at the vascular wall; Syndecan interactions; Syndecan interactions; Defective B4GALT7 causes EDS, progeroid type; Defective B3GAT3 causes JDSSDHD; Defective EXT2 causes exostoses 2; Defective EXT1 causes exostoses 1, TRPS2 and CHDS; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); EPHB-mediated forward signaling; Defective B3GALT6 causes EDSP2 and SEMDJL1; Post-translational protein phosphorylation; Retinoid metabolism and transport","CD molecules|Syndecans"
"877",0,1.5420483881105,0.954,0.236,0,"4","RBP1","retinol binding protein 1","","","This gene encodes the carrier protein involved in the transport of retinol (vitamin A alcohol) from the liver storage site to peripheral tissue. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]","Retinoid cycle disease events; The canonical retinoid cycle in rods (twilight vision); Retinoid metabolism and transport","Fatty acid binding protein family"
"878",0,1.51642310130114,0.967,0.183,0,"4","PCOLCE","procollagen C-endopeptidase enhancer","16, 4","progenitor","Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, respectively, which are cleaved, upon secretion of procollagen from the cell, to yield the mature triple helical, highly structured fibrils. This gene encodes a glycoprotein which binds and drives the enzymatic cleavage of type I procollagen and heightens C-proteinase activity. [provided by RefSeq, Jul 2008]","Collagen biosynthesis and modifying enzymes; Crosslinking of collagen fibrils",""
"879",0,1.4583854781815,0.927,0.162,0,"4","VCAN","versican","","","This gene is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix. This protein is involved in cell adhesion, proliferation, proliferation, migration and angiogenesis and plays a central role in tissue morphogenesis and maintenance. Mutations in this gene are the cause of Wagner syndrome type 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]","A tetrasaccharide linker sequence is required for GAG synthesis; Chondroitin sulfate biosynthesis; Dermatan sulfate biosynthesis; CS/DS degradation; ECM proteoglycans; Defective B4GALT7 causes EDS, progeroid type; Defective B3GAT3 causes JDSSDHD; Defective CHST3 causes SEDCJD; Defective CHST14 causes EDS, musculocontractural type; Defective CHSY1 causes TPBS; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Defective B3GALT6 causes EDSP2 and SEMDJL1; Post-translational protein phosphorylation","Hyalectan proteoglycans|V-set domain containing|Sushi domain containing|C-type lectin domain containing"
"880",0,1.40729135619639,0.998,0.556,0,"4","NGFRAP1","NGFRAP1","11, 4","","NGFRAP1","NGFRAP1","NGFRAP1"
"881",0,1.37172700657525,0.968,0.214,0,"4","AKAP12","A-kinase anchoring protein 12","","endothelial cells, fibroblasts","The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","","A-kinase anchoring proteins"
"882",0,1.31307391509331,0.964,0.152,0,"4","COL5A2","collagen type V alpha 2 chain","16, 4","","This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]","Collagen degradation; Extracellular matrix organization; Collagen biosynthesis and modifying enzymes; Signaling by PDGF; Assembly of collagen fibrils and other multimeric structures; Integrin cell surface interactions; Syndecan interactions; Non-integrin membrane-ECM interactions; ECM proteoglycans; NCAM1 interactions; MET activates PTK2 signaling; Collagen chain trimerization","Collagens"
"883",0,1.30821358428284,0.903,0.078,0,"4","HAND1","heart and neural crest derivatives expressed 1","18, 4","","The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]","","Basic helix-loop-helix proteins"
"884",0,1.29141092386027,0.875,0.192,0,"4","FN1","fibronectin 1","","megakaryocyte","This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. The encoded preproprotein is proteolytically processed to generate the mature protein. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. The full-length nature of some variants has not been determined. [provided by RefSeq, Jan 2016]","Platelet degranulation ; Degradation of the extracellular matrix; Degradation of the extracellular matrix; Extracellular matrix organization; Fibronectin matrix formation; Cell surface interactions at the vascular wall; Molecules associated with elastic fibres; Integrin cell surface interactions; Syndecan interactions; Non-integrin membrane-ECM interactions; ECM proteoglycans; Integrin alphaIIb beta3 signaling; GRB2:SOS provides linkage to MAPK signaling for Integrins ; p130Cas linkage to MAPK signaling for integrins; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); MAP2K and MAPK activation; Interleukin-4 and Interleukin-13 signaling; Signaling by moderate kinase activity BRAF mutants; Signaling by high-kinase activity BRAF mutants; Signaling by RAS mutants; Signaling by BRAF and RAF fusions; Paradoxical activation of RAF signaling by kinase inactive BRAF; MET activates PTK2 signaling; Post-translational protein phosphorylation","Endogenous ligands|Fibronectin type III domain containing"
"885",0,1.2896065784364,0.963,0.212,0,"4","TMEM88","transmembrane protein 88","16, 18, 4","","Not available","",""
"886",0,1.27675918356092,0.898,0.182,0,"4","PHGDH","phosphoglycerate dehydrogenase","","","This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011]","Serine biosynthesis",""
"887",0,1.25368962287101,0.961,0.16,0,"4","POSTN","periostin","16, 4","","This gene encodes a secreted extracellular matrix protein that functions in tissue development and regeneration, including wound healing, and ventricular remodeling following myocardial infarction. The encoded protein binds to integrins to support adhesion and migration of epithelial cells. This protein plays a role in cancer stem cell maintenance and metastasis. Mice lacking this gene exhibit cardiac valve disease, and skeletal and dental defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]","","Gla domain containing"
"888",0,1.22273894306757,0.856,0.143,0,"4","COL4A1","collagen type IV alpha 1 chain","4, 6","","This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]","Collagen degradation; Collagen degradation; Extracellular matrix organization; Collagen biosynthesis and modifying enzymes; Signaling by PDGF; Assembly of collagen fibrils and other multimeric structures; Integrin cell surface interactions; Integrin cell surface interactions; Anchoring fibril formation; Crosslinking of collagen fibrils; Laminin interactions; Laminin interactions; Non-integrin membrane-ECM interactions; ECM proteoglycans; Scavenging by Class A Receptors; NCAM1 interactions; Collagen chain trimerization","Collagens"
"889",0,1.21820128513507,0.988,0.447,0,"4","MAGED2","MAGE family member D2","","megakaryocyte","This gene is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked intellectual disability (XLID). Mutations in this gene cause a form of transient antenatal Bartter's syndrome. This gene may also be involved in several types of cancer, including breast cancer and melanoma. The protein encoded by this gene is progressively recruited from the cytoplasm to the nucleoplasm during the interphase and after nucleolar stress and is thus thought to play a role in cell cycle regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]","Platelet degranulation ","MAGE family"
"890",0,1.21014111290181,0.625,0.088,0,"4","COLEC11","collectin subfamily member 11","4, 6","","This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]","Lectin pathway of complement activation; Initial triggering of complement; Scavenging by Class A Receptors","Collectins|C-type lectin domain containing|Complement system activation components"
"891",0,1.19884738464501,0.945,0.262,0,"4","PPIC","peptidylprolyl isomerase C","","","The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase)) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. Similar to other PPIases, this protein can bind immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008]","","Cyclophilin peptidylprolyl isomerases"
"892",0,1.19720134463792,0.875,0.151,0,"4","SPON2","spondin 2","4, 6","","Not available","Defective B3GALTL causes Peters-plus syndrome (PpS); O-glycosylation of TSR domain-containing proteins",""
"893",0,1.19208982665729,0.754,0.127,0,"4","IGFBP3","insulin like growth factor binding protein 3","4, 6","","This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]","Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); TP53 Regulates Transcription of Death Receptors and Ligands; Post-translational protein phosphorylation","Insulin like growth factor binding proteins"
"894",0,1.19045519407008,0.982,0.46,0,"4","S100A10","S100 calcium binding protein A10","15, 16, 18, 4","","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in exocytosis and endocytosis. [provided by RefSeq, Jul 2008]","Dissolution of Fibrin Clot","S100 calcium binding proteins"
"895",0,1.18557763443662,0.903,0.111,0,"4","COL5A1","collagen type V alpha 1 chain","","","This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]","Collagen degradation; Extracellular matrix organization; Collagen biosynthesis and modifying enzymes; Signaling by PDGF; Assembly of collagen fibrils and other multimeric structures; Integrin cell surface interactions; Syndecan interactions; Non-integrin membrane-ECM interactions; ECM proteoglycans; NCAM1 interactions; MET activates PTK2 signaling; Collagen chain trimerization","Collagens"
"896",0,1.1726578174923,0.915,0.221,0,"4","KCNQ1OT1","KCNQ1 opposite strand/antisense transcript 1","","","Human chromosomal region 11p15.5 contains two clusters of epigenetically-regulated genes that are expressed from only one chromosome in a parent-of-origin manner. Each cluster, or imprinted domain, is regulated by a functionally independent imprinting control region (ICR). The human CDKN1C/KCNQ1OT1 domain is regulated by an ICR located in an intron of KCNQ1, and contains at least eight genes that are expressed exclusively or preferentially from the maternally-inherited allele. The DNA of the ICR is specifically methylated on the maternally-inherited chromosome, and unmethylated on the paternally-inherited chromosome. The ICR contains the promoter of the KCNQ1OT1 gene that is exclusively expressed from the paternal allele. The KCNQ1OT1 transcript is the antisense to the KCNQ1 gene and is a unspliced long non-coding RNA. It interacts with chromatin and regulates transcription of multiple target genes through epigenetic modifications. The transcript is abnormally expressed from both chromosomes in most patients with Beckwith-Wiedemann syndrome, and the transcript also plays an important role in colorectal carcinogenesis. [provided by RefSeq, Apr 2012]","","Long non-coding RNAs (published)"
"897",0,1.17226084077847,0.977,0.241,0,"4","GPC3","glypican 3","18, 4, 8","","Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]","A tetrasaccharide linker sequence is required for GAG synthesis; HS-GAG biosynthesis; HS-GAG biosynthesis; HS-GAG degradation; Defective B4GALT7 causes EDS, progeroid type; Defective B3GAT3 causes JDSSDHD; Defective EXT2 causes exostoses 2; Defective EXT1 causes exostoses 1, TRPS2 and CHDS; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Defective B3GALT6 causes EDSP2 and SEMDJL1; Post-translational protein phosphorylation; Retinoid metabolism and transport","Glypicans"
"898",0,1.16214347320743,0.311,0.032,0,"4","ACTC1","actin, alpha, cardiac muscle 1","","","Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]","Striated Muscle Contraction","Actins"
"899",0,1.15828769835716,0.788,0.061,0,"4","NID2","nidogen 2","","","This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.[provided by RefSeq, Jun 2010]","Laminin interactions; Laminin interactions",""
"900",2.99307629684928e-187,1.23365990349841,0.287,0.053,6.90682286260941e-183,"4","PLA2G2A","phospholipase A2 group IIA","","","The protein encoded by this gene is a member of the phospholipase A2 family (PLA2). PLA2s constitute a diverse family of enzymes with respect to sequence, function, localization, and divalent cation requirements. This gene product belongs to group II, which contains secreted form of PLA2, an extracellular enzyme that has a low molecular mass and requires calcium ions for catalysis. It catalyzes the hydrolysis of the sn-2 fatty acid acyl ester bond of phosphoglycerides, releasing free fatty acids and lysophospholipids, and thought to participate in the regulation of the phospholipid metabolism in biomembranes. Several alternatively spliced transcript variants with different 5' UTRs have been found for this gene.[provided by RefSeq, Sep 2009]","Acyl chain remodelling of PC; Acyl chain remodelling of PS; Acyl chain remodelling of PE; Acyl chain remodelling of PI; Acyl chain remodelling of PG; Synthesis of PA; Antimicrobial peptides","Phospholipases"
"901",0,3.58781079378724,1,0.1,0,"5","HBB","hemoglobin subunit beta","17, 21, 5","erythrocyte, megakaryocyte, neutrophil granulocyte","The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Scavenging of heme from plasma; Neutrophil degranulation; Factors involved in megakaryocyte development and platelet production","Hemoglobin subunits"
"902",0,2.91173936329373,1,0.853,0,"5","HBG2","hemoglobin subunit gamma 2","14, 17, 21, 22, 3, 5","megakaryocyte","The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]","Factors involved in megakaryocyte development and platelet production","Hemoglobin subunits"
"903",0,2.83480222044474,1,0.857,0,"5","HBA2","hemoglobin subunit alpha 2","14, 17, 21, 22, 3, 5","erythrocyte","The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Scavenging of heme from plasma","Hemoglobin subunits"
"904",0,2.610917298564,1,0.831,0,"5","HBA1","hemoglobin subunit alpha 1","14, 17, 21, 22, 3, 5","erythrocyte","The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]","Erythrocytes take up carbon dioxide and release oxygen; Erythrocytes take up oxygen and release carbon dioxide; Scavenging of heme from plasma","Hemoglobin subunits"
"905",0,2.00894788428948,1,0.552,0,"5","HBG1","hemoglobin subunit gamma 1","17, 21, 22, 3, 5","megakaryocyte","The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]","Factors involved in megakaryocyte development and platelet production","Hemoglobin subunits"
"906",0,1.96351403011484,0.999,0.383,0,"5","SNCA","synuclein alpha","17, 21, 5","","Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Alternatively spliced transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2016]","Amyloid fiber formation","Parkinson disease associated genes"
"907",0,1.54731773621805,0.985,0.213,0,"5","BPGM","bisphosphoglycerate mutase","14, 17, 21, 5","erythrocyte","2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]","Glycolysis","Phosphoglycerate mutases|Bisphosphoglycerate phosphatases"
"908",0,1.53312885362281,0.991,0.21,0,"5","ALAS2","5'-aminolevulinate synthase 2","17, 21, 22, 3, 5","erythrocyte","The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]","Heme biosynthesis",""
"909",0,1.48051729517553,1,0.56,0,"5","SLC25A37","solute carrier family 25 member 37","14, 17, 21, 22, 3, 5","","SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011]","Mitochondrial iron-sulfur cluster biogenesis","Solute carriers"
"910",0,1.43776418771529,0.999,0.313,0,"5","AC104389.1","AC104389.1","14, 17, 21, 5","","AC104389.1","AC104389.1","AC104389.1"
"911",0,1.37894005042208,0.998,0.146,0,"5","DONSON","downstream neighbor of SON","14, 17, 21, 5","","This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008]","",""
"912",0,0.918971001097235,0.994,0.724,0,"5","FKBP8","FK506 binding protein 8","21, 5","","The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008]","Ub-specific processing proteases","Tetratricopeptide repeat domain containing|FKBP prolyl isomerases"
"913",0,0.914797334521919,0.972,0.588,0,"5","NCOA4","nuclear receptor coactivator 4","17, 5","","This gene encodes an androgen receptor coactivator. The encoded protein interacts with the androgen receptor in a ligand-dependent manner to enhance its transcriptional activity. Chromosomal translocations between this gene and the ret tyrosine kinase gene, also located on chromosome 10, have been associated with papillary thyroid carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes are present on chromosomes 4, 5, 10, and 14. [provided by RefSeq, Feb 2009]","",""
"914",0,0.886991670681976,0.865,0.164,0,"5","HEMGN","hemogen","14, 17, 22, 3, 5","","Not available","",""
"915",0,0.850104396201807,0.926,0.293,0,"5","HBM","hemoglobin subunit mu","17, 22, 3, 5","","The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. This gene has an ORF encoding a 141 aa polypeptide which is similar to the delta globins found in reptiles and birds. This locus was originally described as a pseudogene; however, it is currently thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]","","Hemoglobin subunits"
"916",0,0.646012608374927,0.851,0.276,0,"5","STRADB","STE20-related kinase adaptor beta","17, 21, 3, 5","","This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]","Energy dependent regulation of mTOR by LKB1-AMPK",""
"917",0,0.61720299590574,0.983,0.389,0,"5","AHSP","alpha hemoglobin stabilizing protein","17, 21, 22, 3, 5","","This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]","",""
"918",0,0.605031470874531,0.752,0.086,0,"5","ACVR2B","activin A receptor type 2B","21, 5","","Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]","Signaling by NODAL; Regulation of signaling by NODAL; Signaling by Activin; Signaling by Activin; Signaling by BMP","Type 2 receptor serine/threonine kinases"
"919",0,0.582059554664744,0.651,0.028,0,"5","PHOSPHO1","phosphoethanolamine/phosphocholine phosphatase","17, 5","","Not available","Synthesis of PC; Synthesis of PE","HAD Asp-based non-protein phosphatases"
"920",0,0.569679059857006,0.556,0.014,0,"5","KRT1","keratin 1","21, 5","neutrophil granulocyte, wet stratified barrier epithelial cells","The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]","Neutrophil degranulation; Keratinization; Formation of the cornified envelope","Keratins, type II"
"921",0,0.565964358439813,0.947,0.226,0,"5","GYPA","glycophorin A (MNS blood group)","17, 22, 3, 5","erythrocyte","Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. In addition to the M or N and S or s antigens that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008]","Cell surface interactions at the vascular wall","Blood group antigens|CD molecules"
"922",0,0.548469192690199,0.768,0.183,0,"5","HBQ1","hemoglobin subunit theta 1","14, 17, 21, 22, 3, 5","erythrocyte","Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue. [provided by RefSeq, Jul 2008]","","Hemoglobin subunits"
"923",0,0.406936095350431,0.584,0.091,0,"5","BDH1","3-hydroxybutyrate dehydrogenase 1","21, 5","","This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]","Utilization of Ketone Bodies; Synthesis of Ketone Bodies","Short chain dehydrogenase/reductase superfamily"
"924",0,0.403716089362326,0.558,0.048,0,"5","PRDM6","PR/SET domain 6","21, 5","smooth muscle cell","The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. Mutations in this gene result in patent ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017]","","Zinc fingers C2H2-type|Lysine methyltransferases|PR/SET domain family"
"925",0,0.397978857814777,0.611,0.111,0,"5","FAM46C","FAM46C","21, 5","","FAM46C","FAM46C","FAM46C"
"926",0,0.373092346713851,0.513,0.044,0,"5","GABRE","gamma-aminobutyric acid type A receptor epsilon subunit","21, 5","","The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants have been identified, but only one is thought to encode a protein. [provided by RefSeq, Oct 2008]","","Gamma-aminobutyric acid type A receptor subunits"
"927",0,0.353148394718185,0.413,0.015,0,"5","RUNDC3A","RUN domain containing 3A","","","Not available","",""
"928",8.93884305177217e-303,0.265341862728178,0.394,0.051,2.06272742262695e-298,"5","TRIM58","tripartite motif containing 58","17, 5","","Not available","","Ring finger proteins|Tripartite motif containing"
"929",1.46525058047686e-302,0.603884441796803,0.812,0.252,3.3812122395084e-298,"5","FECH","ferrochelatase","17, 5","","The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010]","Heme biosynthesis",""
"930",4.90486746512285e-284,0.792332119151049,0.974,0.604,1.13184721625175e-279,"5","BNIP3L","BCL2 interacting protein 3 like","17, 21, 5","","This gene encodes a protein that belongs to the pro-apoptotic subfamily within the Bcl-2 family of proteins. The encoded protein binds to Bcl-2 and possesses the BH3 domain. The protein directly targets mitochondria and causes apoptotic changes, including loss of membrane potential and the release of cytochrome c. [provided by RefSeq, Feb 2015]","TP53 Regulates Transcription of Genes Involved in Cytochrome C Release",""
"931",1.36312647130954e-267,0.497832969115093,0.795,0.236,3.1455506451939e-263,"5","FAM210B","family with sequence similarity 210 member B","14, 17, 21, 22, 3, 5","","Not available","",""
"932",7.59083813550972e-267,0.526713256689376,0.753,0.239,1.75166180815022e-262,"5","DCAF12","DDB1 and CUL4 associated factor 12","21, 5","","This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 2009]","","WD repeat domain containing|DDB1 and CUL4 associated factors"
"933",8.25416573710807e-246,0.286434249608734,0.434,0.078,1.90473128549506e-241,"5","GMPR","guanosine monophosphate reductase","21, 5","","This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides.[provided by RefSeq, Oct 2009]","Purine salvage",""
"934",9.09295242255334e-229,0.694706454325299,0.969,0.576,2.09828970102841e-224,"5","SLC25A39","solute carrier family 25 member 39","17, 21, 22, 3, 5","","This gene encodes a member of the SLC25 transporter or mitochondrial carrier family of proteins. Members of this family are encoded by the nuclear genome while their protein products are usually embedded in the inner mitochondrial membrane and exhibit wide-ranging substrate specificity. Although the encoded protein is currently considered an orphan transporter, this protein is related to other carriers known to transport amino acids. This protein may play a role in iron homeostasis. [provided by RefSeq, Mar 2016]","","Solute carriers"
"935",1.01329777092751e-204,0.534092895135995,0.886,0.451,2.33828593619232e-200,"5","ADIPOR1","adiponectin receptor 1","14, 21, 5","adipocytes","This gene encodes a protein which acts as a receptor for adiponectin, a hormone secreted by adipocytes which regulates fatty acid catabolism and glucose levels. Binding of adiponectin to the encoded protein results in activation of an AMP-activated kinase signaling pathway which affects levels of fatty acid oxidation and insulin sensitivity. A pseudogene of this gene is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2014]","AMPK inhibits chREBP transcriptional activation activity; AMPK inhibits chREBP transcriptional activation activity","Adiponectin receptors|Progestin and adipoQ receptor family"
"936",9.09147551832083e-183,0.298649774379463,0.448,0.111,2.09794889060772e-178,"5","EPB41","erythrocyte membrane protein band 4.1","","erythrocyte","The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009]","Neurexins and neuroligins","Erythrocyte membrane protein band 4.1|FERM domain containing"
"937",1.03919029848739e-160,0.324572695935667,0.624,0.207,2.3980355327895e-156,"5","SELENBP1","selenium binding protein 1","17, 22, 3, 5","","This gene encodes a member of the selenium-binding protein family. Selenium is an essential nutrient that exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. The effects of selenium in preventing cancer and neurologic diseases may be mediated by selenium-binding proteins, and decreased expression of this gene may be associated with several types of cancer. The encoded protein may play a selenium-dependent role in ubiquitination/deubiquitination-mediated protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]","",""
"938",1.61682519747618e-151,0.436760229995508,0.772,0.368,3.73098582569603e-147,"5","MKRN1","makorin ring finger protein 1","","","This gene encodes a protein that belongs to a novel class of zinc finger proteins. The encoded protein functions as a transcriptional co-regulator, and as an E3 ubiquitin ligase that promotes the ubiquitination and proteasomal degradation of target proteins. The protein encoded by this gene is thought to regulate RNA polymerase II-catalyzed transcription. Substrates for this protein's E3 ubiquitin ligase activity include the capsid protein of the West Nile virus and the catalytic subunit of the telomerase ribonucleoprotein. This protein controls cell cycle arrest and apoptosis by regulating p21, a cell cycle regulator, and the tumor suppressor protein p53. Pseudogenes of this gene are present on chromosomes 1, 3, 9, 12 and 20, and on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]","AKT phosphorylates targets in the cytosol; Regulation of PTEN stability and activity; Antigen processing: Ubiquitination & Proteasome degradation","Ring finger proteins"
"939",2.4643879974402e-149,0.316092861683138,0.594,0.209,5.686821742893e-145,"5","BCL2L1","BCL2 like 1","","","The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Alternative splicing results in multiple transcript variants encoding two different isoforms. The longer isoform acts as an apoptotic inhibitor and the shorter isoform acts as an apoptotic activator. [provided by RefSeq, Dec 2015]","BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members; Interleukin-4 and Interleukin-13 signaling; The NLRP1 inflammasome","Protein phosphatase 1 regulatory subunits|BCL2 family"
"940",3.98721207657445e-126,0.284906442733492,0.59,0.231,9.2008905879032e-122,"5","R3HDM4","R3H domain containing 4","21, 5","","Not available","",""
"941",1.00200342640379e-123,0.333035983805814,0.646,0.272,2.31222310676939e-119,"5","RNF11","ring finger protein 11","","","The protein encoded by this gene contains a RING-H2 finger motif, which is known to be important for protein-protein interactions. The expression of this gene has been shown to be induced by mutant RET proteins (MEN2A/MEN2B). The germline mutations in RET gene are known to be responsible for the development of multiple endocrine neoplasia (MEN). [provided by RefSeq, Jul 2008]","","Ring finger proteins"
"942",8.06228472983342e-103,0.387428339835054,0.941,0.727,1.86045282425636e-98,"5","GABARAPL2","GABA type A receptor associated protein like 2","","","Not available","Macroautophagy; TBC/RABGAPs","Autophagy related"
"943",2.44769746986008e-83,0.27196494184135,0.617,0.308,5.64830668144912e-79,"5","CCNDBP1","cyclin D1 binding protein 1","17, 5","","This gene was identified by the interaction of its gene product with Grap2, a leukocyte-specific adaptor protein important for immune cell signaling. The protein encoded by this gene was shown to interact with cyclin D. Transfection of this gene in cells was reported to reduce the phosphorylation of Rb gene product by cyclin D-dependent protein kinase, and inhibit E2F1-mediated transcription activity. This protein was also found to interact with helix-loop-helix protein E12 and is thought to be a negative regulator of liver-specific gene expression. Several alternatively spliced variants have been found for this gene. [provided by RefSeq, Apr 2009]","",""
"944",2.52746170686512e-79,0.261505289353443,0.578,0.283,5.83237063476195e-75,"5","RNF10","ring finger protein 10","","","The protein encoded by this gene contains a ring finger motif, which is known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. EST data suggests the existence of multiple alternatively spliced transcript variants, however, their full length nature is not known. [provided by RefSeq, Jul 2008]","","Ring finger proteins"
"945",2.5901148940977e-77,0.293366313294306,0.75,0.442,5.97694912961985e-73,"5","FBXO7","F-box protein 7","17, 5","","This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008]","Neddylation; Antigen processing: Ubiquitination & Proteasome degradation","F-boxes other|Parkinson disease associated genes"
"946",5.98360711269823e-65,-0.250587971704023,0.005,0.28,1.38077717732624e-60,"5","NKAP","NFKB activating protein","","","This gene encodes a protein that is involved in the activation of the ubiquitous transcription factor NF-kappaB. This protein is associated with the the histone deacetylase HDAC3 and with the Notch corepressor complex, and it thereby acts as a transcriptional repressor of Notch target genes. It is also required for alphabeta T cell development. A related pseudogene has been identified on chromosome X, while a related and intronless retrocopy, which has an intact CDS and may be functional, is located on chromosome 6. [provided by RefSeq, May 2010]","",""
"947",4.6455296303349e-63,-0.250587027096437,0.001,0.268,1.07200241749608e-58,"5","VPS36","vacuolar protein sorting 36 homolog","","","This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A similar protein complex in rat is associated with RNA polymerase elongation factor II. [provided by RefSeq, Aug 2013]","Endosomal Sorting Complex Required For Transport (ESCRT)","ESCRT-II"
"948",3.67034929357373e-61,-0.250650008645159,0,0.26,8.46969802985074e-57,"5","FAM173A","family with sequence similarity 173 member A","","","Not available","","Seven-beta-strand methyltransferase motif containing"
"949",3.15285152290892e-56,-0.250627761520544,0.021,0.273,7.27552017426462e-52,"5","TRIP12","thyroid hormone receptor interactor 12","","","The protein encoded by this gene is an E3 ubiquitin-protein ligase involved in the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA damage response by regulating the stability of USP7, which regulates tumor suppressor p53. [provided by RefSeq, Jan 2017]","Antigen processing: Ubiquitination & Proteasome degradation","Armadillo-like helical domain containing"
"950",1.10447802493954e-31,-0.250431681315569,0.289,0.469,2.54869349035049e-27,"5","DPM2","dolichyl-phosphate mannosyltransferase subunit 2, regulatory","","","Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1. [provided by RefSeq, Jul 2008]","Synthesis of dolichyl-phosphate mannose; Synthesis of glycosylphosphatidylinositol (GPI); Defective DPM2 causes DPM2-CDG (CDG-1u)",""
"951",0,2.85156464759931,0.999,0.347,0,"6","DLK1","delta like non-canonical Notch ligand 1","","adipocytes","This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015]","Activated NOTCH1 Transmits Signal to the Nucleus",""
"952",0,2.6311611043901,0.966,0.108,0,"6","SERPINE2","serpin family E member 2","","","This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]","Intrinsic Pathway of Fibrin Clot Formation; Common Pathway of Fibrin Clot Formation; Dissolution of Fibrin Clot","Serpin peptidase inhibitors"
"953",0,2.50956433951635,1,0.382,0,"6","LUM","lumican","16, 4, 6","cdc, conventional dendritic cell","This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. [provided by RefSeq, Jul 2008]","Keratan sulfate biosynthesis; Keratan sulfate degradation; Integrin cell surface interactions; ECM proteoglycans; Defective CHST6 causes MCDC1; Defective ST3GAL3 causes MCT12 and EIEE15; Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)","Small leucine rich repeat proteoglycans"
"954",0,1.93997056073238,0.986,0.193,0,"6","CTHRC1","collagen triple helix repeat containing 1","4, 6","","This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]","",""
"955",0,1.90268648967615,0.912,0.094,0,"6","MFAP4","microfibril associated protein 4","","","This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]","Molecules associated with elastic fibres","Fibrinogen C domain containing"
"956",0,1.77317146904272,0.983,0.236,0,"6","SDC2","syndecan 2","4, 6","","The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-2 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-2 expression has been detected in several different tumor types. [provided by RefSeq, Jul 2008]","A tetrasaccharide linker sequence is required for GAG synthesis; HS-GAG biosynthesis; HS-GAG biosynthesis; HS-GAG degradation; Cell surface interactions at the vascular wall; Syndecan interactions; Syndecan interactions; Defective B4GALT7 causes EDS, progeroid type; Defective B3GAT3 causes JDSSDHD; Defective EXT2 causes exostoses 2; Defective EXT1 causes exostoses 1, TRPS2 and CHDS; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); EPHB-mediated forward signaling; Defective B3GALT6 causes EDSP2 and SEMDJL1; Post-translational protein phosphorylation; Retinoid metabolism and transport","CD molecules|Syndecans"
"957",0,1.73943303643419,0.932,0.281,0,"6","CDKN1C","cyclin dependent kinase inhibitor 1C","18, 6","","This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]","Cyclin D associated events in G1",""
"958",0,1.72515882527604,0.929,0.15,0,"6","IGFBP7","insulin like growth factor binding protein 7","4, 6","neuron retina horizontal cell","This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011]","Senescence-Associated Secretory Phenotype (SASP); Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Post-translational protein phosphorylation","I-set domain containing"
"959",0,1.71635548439804,0.904,0.131,0,"6","IGFBP3","insulin like growth factor binding protein 3","4, 6","","This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]","Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); TP53 Regulates Transcription of Death Receptors and Ligands; Post-translational protein phosphorylation","Insulin like growth factor binding proteins"
"960",0,1.70719622191065,0.993,0.288,0,"6","CALD1","caldesmon 1","4, 6","","This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of smooth muscle contraction. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]","Smooth Muscle Contraction",""
"961",0,1.687701348784,0.954,0.159,0,"6","PLAT","plasminogen activator, tissue type","","","This gene encodes tissue-type plasminogen activator, a secreted serine protease that converts the proenzyme plasminogen to plasmin, a fibrinolytic enzyme. The encoded preproprotein is proteolytically processed by plasmin or trypsin to generate heavy and light chains. These chains associate via disulfide linkages to form the heterodimeric enzyme. This enzyme plays a role in cell migration and tissue remodeling. Increased enzymatic activity causes hyperfibrinolysis, which manifests as excessive bleeding, while decreased activity leads to hypofibrinolysis, which can result in thrombosis or embolism. Alternative splicing of this gene results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]","Signaling by PDGF; Dissolution of Fibrin Clot",""
"962",0,1.67283146700489,0.937,0.392,0,"6","SOCS3","suppressor of cytokine signaling 3","","","This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene is induced by various cytokines, including IL6, IL10, and interferon (IFN)-gamma. The protein encoded by this gene can bind to JAK2 kinase, and inhibit the activity of JAK2 kinase. Studies of the mouse counterpart of this gene suggested the roles of this gene in the negative regulation of fetal liver hematopoiesis, and placental development. [provided by RefSeq, Jul 2008]","Interleukin-6 signaling; Signaling by Leptin; Interleukin-4 and Interleukin-13 signaling; Interferon gamma signaling; Regulation of IFNG signaling; PTK6 Activates STAT3; Interleukin-20 family signaling; RUNX1 regulates transcription of genes involved in differentiation of keratinocytes; Neddylation; Interferon alpha/beta signaling; Regulation of IFNA signaling; Growth hormone receptor signaling; Antigen processing: Ubiquitination & Proteasome degradation","SH2 domain containing|Suppressors of cytokine signaling"
"963",0,1.66808984023219,0.993,0.783,0,"6","JUNB","JunB proto-oncogene, AP-1 transcription factor subunit","","","Not available","SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription; Interleukin-4 and Interleukin-13 signaling","Basic leucine zipper proteins|Jun transcription factor family"
"964",0,1.64541360907796,0.996,0.331,0,"6","MEG3","maternally expressed 3","4, 6","","This gene is a maternally expressed imprinted gene. Multiple alternatively spliced transcript variants have been transcribed from this gene and all of them are long non-coding RNAs (lncRNAs). This gene is expressed in many normal tissues, but its expression is lost in multiple cancer cell lines of various tissue origins. It inhibits tumor cell proliferation in vitro. It also interacts with the tumor suppressor p53, and regulates p53 target gene expression. Its deletion enhances angiogenesis in vivo. Many experimental evidences demonstrate that this gene is a lncRNA tumor suppressor. [provided by RefSeq, Mar 2012]","","Long non-coding RNAs (published)"
"965",0,1.63406442450294,0.669,0.011,0,"6","ASPN","asporin","","","This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.[provided by RefSeq, Jul 2014]","ECM proteoglycans","Small leucine rich repeat proteoglycans"
"966",0,1.62629349280806,0.98,0.277,0,"6","DCN","decorin","16, 4, 6","","This gene encodes a member of the small leucine-rich proteoglycan family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. This protein plays a role in collagen fibril assembly. Binding of this protein to multiple cell surface receptors mediates its role in tumor suppression, including a stimulatory effect on autophagy and inflammation and an inhibitory effect on angiogenesis and tumorigenesis. This gene and the related gene biglycan are thought to be the result of a gene duplication. Mutations in this gene are associated with congenital stromal corneal dystrophy in human patients. [provided by RefSeq, Nov 2015]","Degradation of the extracellular matrix; A tetrasaccharide linker sequence is required for GAG synthesis; Chondroitin sulfate biosynthesis; Dermatan sulfate biosynthesis; CS/DS degradation; ECM proteoglycans; ECM proteoglycans; Defective B4GALT7 causes EDS, progeroid type; Defective B3GAT3 causes JDSSDHD; Defective CHST3 causes SEDCJD; Defective CHST14 causes EDS, musculocontractural type; Defective CHSY1 causes TPBS; Defective B3GALT6 causes EDSP2 and SEMDJL1","Small leucine rich repeat proteoglycans"
"967",0,1.62143241679471,0.887,0.304,0,"6","HES1","hes family bHLH transcription factor 1","11, 6","osteoblast, progenitor","This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of basic domain that contains a helix interrupting protein that binds to the N-box rather than the canonical E-box. [provided by RefSeq, Jul 2008]","Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells; NOTCH1 Intracellular Domain Regulates Transcription; NOTCH2 intracellular domain regulates transcription; Constitutive Signaling by NOTCH1 PEST Domain Mutants; Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants; RUNX2 regulates osteoblast differentiation; RUNX3 regulates NOTCH signaling; RUNX3 regulates NOTCH signaling; NOTCH3 Intracellular Domain Regulates Transcription; NOTCH4 Intracellular Domain Regulates Transcription","Basic helix-loop-helix proteins"
"968",0,1.5958224393888,0.715,0.205,0,"6","ACTA2","actin, alpha 2, smooth muscle, aorta","4, 6","","This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017]","Smooth Muscle Contraction; NOTCH4 Intracellular Domain Regulates Transcription","Actins"
"969",0,1.57505384242183,0.997,0.787,0,"6","FOS","Fos proto-oncogene, AP-1 transcription factor subunit","","","The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2.  These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1.  As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation.  In some cases, expression of the FOS gene has also been associated with apoptotic cell death. [provided by RefSeq, Jul 2008]","Oxidative Stress Induced Senescence; Senescence-Associated Secretory Phenotype (SASP); FCERI mediated MAPK activation; Activation of the AP-1 family of transcription factors; Interleukin-4 and Interleukin-13 signaling; TP53 Regulates Transcription of DNA Repair Genes; Estrogen-dependent gene expression","Basic leucine zipper proteins|Fos transcription factor family"
"970",0,1.56843395037528,0.908,0.164,0,"6","SPON2","spondin 2","4, 6","","Not available","Defective B3GALTL causes Peters-plus syndrome (PpS); O-glycosylation of TSR domain-containing proteins",""
"971",0,1.55511697710057,0.996,0.344,0,"6","FRZB","frizzled related protein","18, 4, 6","","The protein encoded by this gene is a secreted protein that is involved in the regulation of bone development. Defects in this gene are a cause of female-specific osteoarthritis (OA) susceptibility. [provided by RefSeq, Apr 2010]","","Secreted frizzled-related proteins"
"972",0,1.54415531180066,0.995,0.375,0,"6","COL3A1","collagen type III alpha 1 chain","16, 4, 6","lymphoid","This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]","Collagen degradation; Collagen degradation; Extracellular matrix organization; Collagen biosynthesis and modifying enzymes; Signaling by PDGF; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; Assembly of collagen fibrils and other multimeric structures; Integrin cell surface interactions; Syndecan interactions; Non-integrin membrane-ECM interactions; ECM proteoglycans; ECM proteoglycans; Scavenging by Class A Receptors; NCAM1 interactions; MET activates PTK2 signaling; Collagen chain trimerization","Collagens"
"973",0,1.51751458819156,0.863,0.179,0,"6","RARRES2","retinoic acid receptor responder 2","","adipocytes, megakaryocyte","This gene encodes a secreted chemotactic protein that initiates chemotaxis via the ChemR23 G protein-coupled seven-transmembrane domain ligand. Expression of this gene is upregulated by the synthetic retinoid tazarotene and occurs in a wide variety of tissues. The active protein has several roles, including that as an adipokine and as an antimicrobial protein with activity against bacteria and fungi. [provided by RefSeq, Nov 2014]","Platelet degranulation ","Endogenous ligands"
"974",0,1.51632510695568,0.869,0.119,0,"6","COL6A3","collagen type VI alpha 3 chain","","","This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]","Collagen degradation; Collagen biosynthesis and modifying enzymes; Signaling by PDGF; Assembly of collagen fibrils and other multimeric structures; Integrin cell surface interactions; ECM proteoglycans; ECM proteoglycans; NCAM1 interactions; Collagen chain trimerization","Collagens"
"975",0,1.49278710426257,0.807,0.156,0,"6","CYR61","cysteine rich angiogenic inducer 61","16, 6","endothelial cells","The secreted protein encoded by this gene is growth factor-inducible and promotes the adhesion of endothelial cells. The encoded protein interacts with several integrins and with heparan sulfate proteoglycan. This protein also plays a role in cell proliferation, differentiation, angiogenesis, apoptosis, and extracellular matrix formation. [provided by RefSeq, Sep 2011]","Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Post-translational protein phosphorylation","CYR61/CTGF/NOV matricellular proteins"
"976",0,1.47586808324878,0.966,0.365,0,"6","APP","amyloid beta precursor protein","","megakaryocyte, progenitor","This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014]","Platelet degranulation ; ECM proteoglycans; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); G alpha (q) signalling events; G alpha (i) signalling events; Lysosome Vesicle Biogenesis; Formyl peptide receptors bind formyl peptides and many other ligands; TAK1 activates NFkB by phosphorylation and activation of IKKs complex; The NLRP3 inflammasome; Advanced glycosylation endproduct receptor signaling; Advanced glycosylation endproduct receptor signaling; Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models; Post-translational protein phosphorylation; TRAF6 mediated NF-kB activation; Amyloid fiber formation","Endogenous ligands"
"977",0,1.43150295706158,1,0.868,0,"6","RPL17","ribosomal protein L17","19, 6","","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL23 because the encoded protein shares amino acid identity with ribosomal protein L23 from Halobacterium marismortui; however, its official symbol is RPL17. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream C18orf32 (chromosome 18 open reading frame 32) gene. [provided by RefSeq, Dec 2010]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Formation of a pool of free 40S subunits; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","L ribosomal proteins"
"978",0,1.41951305037718,0.98,0.742,0,"6","ZFP36","ZFP36 ring finger protein","","","Not available","Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA","Zinc fingers CCCH-type"
"979",0,1.39263891759669,0.687,0.057,0,"6","CLEC2B","C-type lectin domain family 2 member B","","lymphoid","This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell activation antigen. An alternative splice variant has been described but its full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell","C-type lectin domain containing"
"980",0,1.39133639630915,0.95,0.296,0,"6","CNN3","calponin 3","","","This gene encodes a protein with a markedly acidic C terminus; the basic N-terminus is highly homologous to the N-terminus of a related gene, CNN1. Members of the CNN gene family all contain similar tandemly repeated motifs. This encoded protein is associated with the cytoskeleton but is not involved in contraction. [provided by RefSeq, Jul 2008]","",""
"981",0,1.38958341548665,0.997,0.431,0,"6","IGF2","insulin like growth factor 2","18, 4, 6","megakaryocyte","This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]","Platelet degranulation ; Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R); IRS-related events triggered by IGF1R; SHC-related events triggered by IGF1R; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)",""
"982",0,1.38798075335998,0.878,0.164,0,"6","COL4A2","collagen type IV alpha 2 chain","","","This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]","Collagen degradation; Collagen degradation; Extracellular matrix organization; Collagen biosynthesis and modifying enzymes; Signaling by PDGF; Assembly of collagen fibrils and other multimeric structures; Integrin cell surface interactions; Integrin cell surface interactions; Anchoring fibril formation; Crosslinking of collagen fibrils; Laminin interactions; Laminin interactions; Non-integrin membrane-ECM interactions; ECM proteoglycans; Scavenging by Class A Receptors; NCAM1 interactions; Collagen chain trimerization","Collagens"
"983",0,1.3870916482213,0.715,0.137,0,"6","MGP","matrix Gla protein","16, 6","smooth muscle cell","This gene encodes a member of the osteocalcin/matrix Gla family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a physiological inhibitor of ectopic tissue calcification. Carboxylation status of the encoded protein is associated with calcification of the vasculature in human patients with cardiovascular disease and calcification of the synovial membranes in osteoarthritis patients. Mutations in this gene cause Keutel syndrome in human patients, which is characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and facial hypoplasia. [provided by RefSeq, Sep 2016]","","Gla domain containing"
"984",0,1.37887375121113,0.883,0.276,0,"6","SOX4","SRY-box 4","","","This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]","Deactivation of the beta-catenin transactivating complex","SRY-boxes"
"985",0,1.37393482857385,0.955,0.347,0,"6","TFPI","tissue factor pathway inhibitor","11, 20, 6","","This gene encodes a Kunitz-type serine protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. Inhibition of the encoded protein restores hemostasis in animal models of hemophilia. This gene encodes multiple protein isoforms that differ in their inhibitory activity, specificity and cellular localization. [provided by RefSeq, Jul 2016]","Extrinsic Pathway of Fibrin Clot Formation",""
"986",0,1.34983752082798,0.75,0.092,0,"6","COLEC11","collectin subfamily member 11","4, 6","","This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]","Lectin pathway of complement activation; Initial triggering of complement; Scavenging by Class A Receptors","Collectins|C-type lectin domain containing|Complement system activation components"
"987",0,1.34154463829027,0.867,0.157,0,"6","COL4A1","collagen type IV alpha 1 chain","4, 6","","This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]","Collagen degradation; Collagen degradation; Extracellular matrix organization; Collagen biosynthesis and modifying enzymes; Signaling by PDGF; Assembly of collagen fibrils and other multimeric structures; Integrin cell surface interactions; Integrin cell surface interactions; Anchoring fibril formation; Crosslinking of collagen fibrils; Laminin interactions; Laminin interactions; Non-integrin membrane-ECM interactions; ECM proteoglycans; Scavenging by Class A Receptors; NCAM1 interactions; Collagen chain trimerization","Collagens"
"988",0,1.33790406949921,0.937,0.365,0,"6","SLC2A1","solute carrier family 2 member 1","14, 18, 6","","This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]","Cellular hexose transport; Vitamin C (ascorbate) metabolism; Regulation of insulin secretion; Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1); Lactose synthesis","Solute carriers"
"989",0,1.3305497138045,1,0.913,0,"6","AC090498.1","AC090498.1","","","AC090498.1","AC090498.1","AC090498.1"
"990",0,1.31186712312967,0.978,0.576,0,"6","WBP5","WBP5","","","WBP5","WBP5","WBP5"
"991",0,1.28898841404583,0.984,0.676,0,"6","LAPTM4A","lysosomal protein transmembrane 4 alpha","","","This gene encodes a protein that has four predicted transmembrane domains. The function of this gene has not yet been determined; however, studies in the mouse homolog suggest a role in the transport of small molecules across endosomal and lysosomal membranes. [provided by RefSeq, Jul 2008]","",""
"992",0,1.27909694657361,0.564,0.074,0,"6","CXCL14","C-X-C motif chemokine ligand 14","","dendritic cell, macrophage, monocyte, neutrophil granulocyte","This antimicrobial gene belongs to the cytokine gene family which encode secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded by this gene is structurally related to the CXC (Cys-X-Cys) subfamily of cytokines. Members of this subfamily are characterized by two cysteines separated by a single amino acid. This cytokine displays chemotactic activity for monocytes but not for lymphocytes, dendritic cells, neutrophils or macrophages. It has been implicated that this cytokine is involved in the homeostasis of monocyte-derived macrophages rather than in inflammation. [provided by RefSeq, Sep 2014]","","Chemokine ligands"
"993",0,1.27167670241297,0.841,0.174,0,"6","FSTL1","follistatin like 1","","","This gene encodes a protein with similarity to follistatin, an activin-binding protein. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. This gene product is thought to be an autoantigen associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]","Signaling by BMP; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Post-translational protein phosphorylation","SPARC family"
"994",0,1.25562114773384,0.788,0.151,0,"6","PLOD2","procollagen-lysine,2-oxoglutarate 5-dioxygenase 2","","","The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","Collagen biosynthesis and modifying enzymes",""
"995",0,1.2351476020753,0.853,0.399,0,"6","SERTAD1","SERTA domain containing 1","","","Not available","",""
"996",0,1.22969367304085,0.992,0.712,0,"6","SEPP1","SEPP1","2, 6","","SEPP1","SEPP1","SEPP1"
"997",0,1.22442225327512,0.771,0.193,0,"6","GEM","GTP binding protein overexpressed in skeletal muscle","","","The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]","","RGK type GTPase family"
"998",0,1.2213463653642,0.689,0.08,0,"6","MFAP2","microfibril associated protein 2","","","Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]","Elastic fibre formation; Molecules associated with elastic fibres; Molecules associated with elastic fibres",""
"999",0,1.21945209264296,0.678,0.153,0,"6","ERRFI1","ERBB receptor feedback inhibitor 1","","","ERRFI1 is a cytoplasmic protein whose expression is upregulated with cell growth (Wick et al., 1995 [PubMed 7641805]). It shares significant homology with the protein product of rat gene-33, which is induced during cell stress and mediates cell signaling (Makkinje et al., 2000 [PubMed 10749885]; Fiorentino et al., 2000 [PubMed 11003669]).[supplied by OMIM, Mar 2008]","",""
"1000",9.8004196671787e-306,1.29702253997279,0.781,0.298,2.26154484239816e-301,"6","IRF1","interferon regulatory factor 1","","megakaryocyte","The protein encoded by this gene is a transcriptional regulator and tumor suppressor, serving as an activator of genes involved in both innate and acquired immune responses. The encoded protein activates the transcription of genes involved in the body's response to viruses and bacteria, playing a role in cell proliferation, apoptosis, the immune response, and DNA damage response. This protein represses the transcription of several other genes. As a tumor suppressor, it both suppresses tumor cell growth and stimulates an immune response against tumor cells. Defects in this gene have been associated with gastric cancer, myelogenous leukemia, and lung cancer. [provided by RefSeq, Aug 2017]","Interferon gamma signaling; Interferon alpha/beta signaling; Factors involved in megakaryocyte development and platelet production",""
"1001",0,1.28961689777363,0.968,0.409,0,"7","TOP2A","DNA topoisomerase II alpha","10, 7","","This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [provided by RefSeq, Jul 2010]","Transcription of E2F targets under negative control by DREAM complex; SUMOylation of DNA replication proteins; SUMOylation of DNA replication proteins","Topoisomerases"
"1002",9.03871068156244e-277,0.707307717416244,0.801,0.255,2.08577287687735e-272,"7","MKI67","marker of proliferation Ki-67","10, 7","","This gene encodes a nuclear protein that is associated with and may be necessary for cellular proliferation. Alternatively spliced transcript variants have been described. A related pseudogene exists on chromosome X. [provided by RefSeq, Mar 2009]","","Protein phosphatase 1 regulatory subunits"
"1003",5.86436479711442e-272,0.922086288396297,1,0.843,1.35326082058212e-267,"7","H2AFZ","H2A histone family member Z","10, 7, 9","hematopoietic stem cell, megakaryocyte","Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. [provided by RefSeq, Jul 2008]","Meiotic synapsis; Packaging Of Telomere Ends; Pre-NOTCH Transcription and Translation; Formation of the beta-catenin:TCF transactivating complex; Formation of the beta-catenin:TCF transactivating complex; PRC2 methylates histones and DNA; Condensation of Prophase Chromosomes; Oxidative Stress Induced Senescence; Senescence-Associated Secretory Phenotype (SASP); DNA Damage/Telomere Stress Induced Senescence; RMTs methylate histone arginines; SIRT1 negatively regulates rRNA expression; ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression; NoRC negatively regulates rRNA expression; NoRC negatively regulates rRNA expression; B-WICH complex positively regulates rRNA expression; DNA methylation; Transcriptional regulation by small RNAs; Activation of anterior HOX genes in hindbrain development during early embryogenesis; Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3; Deposition of new CENPA-containing nucleosomes at the centromere; RNA Polymerase I Promoter Opening; RNA Polymerase I Chain Elongation; RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function; RUNX1 regulates transcription of genes involved in differentiation of HSCs; Estrogen-dependent gene expression; Meiotic recombination; Amyloid fiber formation","Histones"
"1004",2.37908990147276e-243,0.641289355555811,1,0.895,5.48998785663853e-239,"7","COX8A","cytochrome c oxidase subunit 8A","","","The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008]","TP53 Regulates Metabolic Genes; Respiratory electron transport","Mitochondrial complex IV: cytochrome c oxidase subunits"
"1005",1.23470041855031e-239,0.765941713596458,1,0.889,2.84919468584669e-235,"7","TUBA1B","tubulin alpha 1b","10, 7","","Not available","Translocation of SLC2A4 (GLUT4) to the plasma membrane; Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane; Gap junction assembly; MHC class II antigen presentation; Separation of Sister Chromatids; Resolution of Sister Chromatid Cohesion; HSP90 chaperone cycle for steroid hormone receptors (SHR); Recruitment of NuMA to mitotic centrosomes; Formation of tubulin folding intermediates by CCT/TriC; Post-chaperonin tubulin folding pathway; Recycling pathway of L1; Recycling pathway of L1; Hedgehog 'off' state; Cilium Assembly; Intraflagellar transport; RHO GTPases activate IQGAPs; RHO GTPases Activate Formins; COPI-mediated anterograde transport; COPI-dependent Golgi-to-ER retrograde traffic; COPI-independent Golgi-to-ER retrograde traffic; Mitotic Prometaphase; The role of GTSE1 in G2/M progression after G2 checkpoint; Carboxyterminal post-translational modifications of tubulin; Carboxyterminal post-translational modifications of tubulin; Kinesins","Tubulins"
"1006",4.05889608477888e-229,0.713554592016324,0.842,0.336,9.36630860523575e-225,"7","CDK1","cyclin dependent kinase 1","10, 7","cdc, conventional dendritic cell","The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is a catalytic subunit of the highly conserved protein kinase complex known as M-phase promoting factor (MPF), which is essential for G1/S and G2/M phase transitions of eukaryotic cell cycle. Mitotic cyclins stably associate with this protein and function as regulatory subunits. The kinase activity of this protein is controlled by cyclin accumulation and destruction through the cell cycle. The phosphorylation and dephosphorylation of this protein also play important regulatory roles in cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]","MAPK3 (ERK1) activation; E2F-enabled inhibition of pre-replication complex formation; Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1; Golgi Cisternae Pericentriolar Stack Reorganization; Phosphorylation of proteins involved in the G2/M transition by Cyclin A:Cdc2 complexes; APC/C:Cdc20 mediated degradation of Cyclin B; Cdc20:Phospho-APC/C mediated degradation of Cyclin A; Regulation of APC/C activators between G1/S and early anaphase; Phosphorylation of the APC/C; Phosphorylation of Emi1; Condensation of Prophase Chromosomes; MASTL Facilitates Mitotic Progression; Resolution of Sister Chromatid Cohesion; Condensation of Prometaphase Chromosomes; Regulation of PLK1 Activity at G2/M Transition; Activation of NIMA Kinases NEK9, NEK6, NEK7; Nuclear Pore Complex (NPC) Disassembly; Loss of Nlp from mitotic centrosomes; Recruitment of mitotic centrosome proteins and complexes; Loss of proteins required for interphase microtubule organization from the centrosome; Recruitment of NuMA to mitotic centrosomes; Depolymerisation of the Nuclear Lamina; Activation of E2F1 target genes at G1/S; Activation of E2F1 target genes at G1/S; Anchoring of the basal body to the plasma membrane; MAPK6/MAPK4 signaling; Ovarian tumor domain proteases; TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest; Regulation of TP53 Degradation; Mitotic Prophase; Cyclin A/B1/B2 associated events during G2/M transition; Cyclin A/B1/B2 associated events during G2/M transition; G2/M DNA replication checkpoint; Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex; The role of GTSE1 in G2/M progression after G2 checkpoint; AURKA Activation by TPX2; Transcriptional regulation by RUNX2","Cyclin dependent kinases"
"1007",3.95700502771062e-226,0.749778783659688,0.907,0.376,9.13118480194503e-222,"7","TMIGD3","transmembrane and immunoglobulin domain containing 3","0, 1, 7","","This gene encodes a transmembrane and immunoglobulin domain-containing protein. Alternative splicing results in multiple transcript variants, one of which shares its 5' terminal exon with that of the overlapping adenosine A3 receptor gene (GeneID:140), thus resulting in a fusion product. [provided by RefSeq, Nov 2014]","",""
"1008",2.27229302863803e-225,0.639451982481897,1,0.93,5.24354339288511e-221,"7","PFN1","profilin 1","","megakaryocyte","This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012]","Platelet degranulation ; Signaling by ROBO receptors; PCP/CE pathway; RHO GTPases Activate Formins; RHO GTPases Activate Formins",""
"1009",3.22650701902506e-225,0.74806506093482,1,0.877,7.44548759710223e-221,"7","HMGN2","high mobility group nucleosomal binding domain 2","10, 7","","The protein encoded by this gene binds nucleosomal DNA and is associated with transcriptionally active chromatin. Along with a similar protein, HMGN1, the encoded protein may help maintain an open chromatin configuration around transcribable genes. The protein has also been found to have antimicrobial activity against bacteria, viruses and fungi. [provided by RefSeq, Oct 2014]","","Canonical high mobility group"
"1010",3.71368254876267e-222,0.664317078267802,1,0.912,8.56969384952474e-218,"7","AP2S1","adaptor related protein complex 2 subunit sigma 1","0, 7","","One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]","Nef Mediated CD4 Down-regulation; Retrograde neurotrophin signalling; Retrograde neurotrophin signalling; Nef Mediated CD8 Down-regulation; MHC class II antigen presentation; EPH-ephrin mediated repulsion of cells; Trafficking of GluR2-containing AMPA receptors; Recycling pathway of L1; Recycling pathway of L1; WNT5A-dependent internalization of FZD4; WNT5A-dependent internalization of FZD2, FZD5 and ROR2; Cargo recognition for clathrin-mediated endocytosis; Clathrin-mediated endocytosis; VLDLR internalisation and degradation; LDL clearance",""
"1011",4.99717873227345e-219,0.693547386579555,0.999,0.863,1.15314896425942e-214,"7","TUBB","tubulin beta class I","10, 7","neutrophil granulocyte","This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014]","Regulation of PLK1 Activity at G2/M Transition; Loss of Nlp from mitotic centrosomes; Recruitment of mitotic centrosome proteins and complexes; Loss of proteins required for interphase microtubule organization from the centrosome; Recruitment of NuMA to mitotic centrosomes; Anchoring of the basal body to the plasma membrane; Neutrophil degranulation; AURKA Activation by TPX2","Tubulins"
"1012",1.18008948290513e-214,0.788047299141601,0.881,0.417,2.72317449075188e-210,"7","UBE2C","ubiquitin conjugating enzyme E2 C","10, 7","cdc, conventional dendritic cell","The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is required for the destruction of mitotic cyclins and for cell cycle progression, and may be involved in cancer progression. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been defined on chromosomes 4, 14, 15, 18, and 19. [provided by RefSeq, Aug 2013]","Inactivation of APC/C via direct inhibition of the APC/C complex; APC/C:Cdc20 mediated degradation of Cyclin B; Autodegradation of Cdh1 by Cdh1:APC/C; APC/C:Cdc20 mediated degradation of Securin; APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1; Cdc20:Phospho-APC/C mediated degradation of Cyclin A; Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase; Regulation of APC/C activators between G1/S and early anaphase; APC/C:Cdc20 mediated degradation of mitotic proteins; Phosphorylation of the APC/C; APC-Cdc20 mediated degradation of Nek2A; Separation of Sister Chromatids; Senescence-Associated Secretory Phenotype (SASP); CDK-mediated phosphorylation and removal of Cdc6; Synthesis of active ubiquitin: roles of E1 and E2 enzymes; Antigen processing: Ubiquitination & Proteasome degradation","Ubiquitin conjugating enzymes E2"
"1013",1.98583862708743e-209,0.640909673094141,0.822,0.363,4.58252121586694e-205,"7","TMPO","thymopoietin","","","The protein encoded by this gene resides in the nucleus and may play a role in the assembly of the nuclear lamina, and thus help maintain the structural organization of the nuclear envelope. It may function as a receptor for the attachment of lamin filaments to the inner nuclear membrane. Mutations in this gene are associated with dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, May 2010]","Clearance of Nuclear Envelope Membranes from Chromatin; Initiation of Nuclear Envelope Reformation; Depolymerisation of the Nuclear Lamina","LEM domain containing"
"1014",1.86793254308309e-201,0.726383540447136,0.999,0.739,4.31044113641853e-197,"7","S100A9","S100 calcium binding protein A9","0, 1, 15, 7","neutrophil granulocyte","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and altered expression of this protein is associated with the disease cystic fibrosis. This antimicrobial protein exhibits antifungal and antibacterial activity. [provided by RefSeq, Nov 2014]","Regulation of TLR by endogenous ligand; Neutrophil degranulation; Metal sequestration by antimicrobial proteins","S100 calcium binding proteins|EF-hand domain containing"
"1015",1.04755790616465e-191,1.23991065126357,0.936,0.632,2.41734462426554e-187,"7","HIST1H4C","histone cluster 1 H4 family member c","10, 3, 7","hematopoietic stem cell, megakaryocyte","Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]","Meiotic synapsis; Packaging Of Telomere Ends; Pre-NOTCH Transcription and Translation; Formation of the beta-catenin:TCF transactivating complex; Formation of the beta-catenin:TCF transactivating complex; PRC2 methylates histones and DNA; Condensation of Prophase Chromosomes; Oxidative Stress Induced Senescence; Senescence-Associated Secretory Phenotype (SASP); DNA Damage/Telomere Stress Induced Senescence; HDACs deacetylate histones; PKMTs methylate histone lysines; HDMs demethylate histones; HATs acetylate histones; HATs acetylate histones; RMTs methylate histone arginines; SIRT1 negatively regulates rRNA expression; ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression; NoRC negatively regulates rRNA expression; NoRC negatively regulates rRNA expression; SUMOylation of chromatin organization proteins; B-WICH complex positively regulates rRNA expression; DNA methylation; Transcriptional regulation by small RNAs; Activation of anterior HOX genes in hindbrain development during early embryogenesis; Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3; Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks; Nonhomologous End-Joining (NHEJ); Processing of DNA double-strand break ends; Deposition of new CENPA-containing nucleosomes at the centromere; G2/M DNA damage checkpoint; RNA Polymerase I Promoter Opening; RNA Polymerase I Chain Elongation; RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function; RUNX1 regulates transcription of genes involved in differentiation of HSCs; Estrogen-dependent gene expression; Meiotic recombination; Amyloid fiber formation","Histones"
"1016",2.32734500195001e-190,0.588653713232166,0.882,0.401,5.37058132649984e-186,"7","PYGL","glycogen phosphorylase L","","neutrophil granulocyte","This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]","Neutrophil degranulation; Glycogen breakdown (glycogenolysis)","Glycogen phosphorylases"
"1017",4.77144659800103e-186,0.730378949027841,0.992,0.674,1.10105901695472e-181,"7","EGFL7","EGF like domain multiple 7","0, 1, 7","endothelial cells","This gene encodes a secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be involved in the growth and proliferation of tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]","",""
"1018",5.01981224650696e-181,0.681902924026146,0.951,0.539,1.15837187400395e-176,"7","STAB1","stabilin 1","0, 1, 7","endothelial cells","This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008]","Scavenging by Class H Receptors","Scavenger receptors"
"1019",3.03282434406061e-179,0.624913300807496,0.909,0.433,6.99854545635426e-175,"7","TREM2","triggering receptor expressed on myeloid cells 2","0, 7","lymphoid","This gene encodes a membrane protein that forms a receptor signaling complex with the TYRO protein tyrosine kinase binding protein. The encoded protein functions in immune response and may be involved in chronic inflammation by triggering the production of constitutive inflammatory cytokines. Defects in this gene are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; DAP12 interactions; DAP12 signaling; DAP12 signaling; Other semaphorin interactions","V-set domain containing"
"1020",5.10782676718995e-179,0.66021679647753,0.932,0.485,1.17868210479675e-174,"7","KIAA0101","KIAA0101","10, 7, 9","","KIAA0101","KIAA0101","KIAA0101"
"1021",3.38208807373e-178,0.653535255010941,0.941,0.566,7.80450643893935e-174,"7","CKS1B","CDC28 protein kinase regulatory subunit 1B","10, 7","","CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. At least two transcript variants have been identified for this gene, and it appears that only one of them encodes a protein. [provided by RefSeq, Sep 2008]","SCF(Skp2)-mediated degradation of p27/p21; Cyclin D associated events in G1",""
"1022",6.77974552653998e-174,0.655175691282317,0.996,0.758,1.56449407770437e-169,"7","VAMP8","vesicle associated membrane protein 8","12, 7","neutrophil granulocyte","This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010]","ER-Phagosome pathway; Clathrin derived vesicle budding; Lysosome Vesicle Biogenesis; Golgi Associated Vesicle Biogenesis; Neutrophil degranulation; Cargo recognition for clathrin-mediated endocytosis; Clathrin-mediated endocytosis","Vesicle associated membrane proteins"
"1023",8.95581086515254e-174,0.588896295704801,0.996,0.836,2.0666429152426e-169,"7","CALM3","calmodulin 3","","","This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Activity of this protein is important in the regulation of the cell cycle and cytokinesis. Multiple alternatively spliced transcript variants have been observed at this gene. [provided by RefSeq, Aug 2016]","","Endogenous ligands|EF-hand domain containing"
"1024",1.53758914616206e-173,0.626420597442111,0.942,0.589,3.54814071368356e-169,"7","CKLF","chemokine like factor","","monocyte, neutrophil granulocyte, skeletal muscle cell","The product of this gene is a cytokine. Cytokines are small proteins that have an essential role in the immune and inflammatory responses. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. The protein encoded by this gene is a potent chemoattractant for neutrophils, monocytes and lymphocytes. It also can stimulate the proliferation of skeletal muscle cells. This protein may play important roles in inflammation and in the regeneration of skeletal muscle. Alternatively spliced transcript variants encoding different isoforms have been identified. Naturally occurring read-through transcription occurs between this locus and the neighboring locus CMTM1 (CKLF-like MARVEL transmembrane domain containing 1).[provided by RefSeq, Feb 2011]","",""
"1025",1.82206239542027e-172,0.624312851872428,0.996,0.808,4.20459118367182e-168,"7","STMN1","stathmin 1","10, 7","","This gene belongs to the stathmin family of genes. It encodes a ubiquitous cytosolic phosphoprotein proposed to function as an intracellular relay integrating regulatory signals of the cellular environment. The encoded protein is involved in the regulation of the microtubule filament system by destabilizing microtubules. It prevents assembly and promotes disassembly of microtubules. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]","","Stathmins"
"1026",1.46001801507121e-169,0.620260346059158,0.984,0.763,3.36913757157833e-165,"7","NUCKS1","nuclear casein kinase and cyclin dependent kinase substrate 1","10, 7","","This gene encodes a nuclear protein that is highly conserved in vertebrates. The conserved regions of the protein contain several consensus phosphorylation sites for casein kinase II and cyclin-dependent kinases, two putative nuclear localization signals, and a basic DNA-binding domain. It is phosphorylated in vivo by Cdk1 during mitosis of the cell cycle. [provided by RefSeq, Aug 2010]","",""
"1027",9.51778003210878e-169,0.716591020097452,0.858,0.469,2.19632292020942e-164,"7","CHCHD10","coiled-coil-helix-coiled-coil-helix domain containing 10","0, 12, 7","","This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]","Mitochondrial protein import","Mitochondrial coiled-coil-helix-coiled-coil-helix domain containing proteins"
"1028",3.89696037159105e-167,0.738838635810256,1,0.797,8.9926257534835e-163,"7","TYROBP","TYRO protein tyrosine kinase binding protein","0, 1, 7","lymphoid, myeloid, neutrophil granulocyte","This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell; DAP12 interactions; DAP12 interactions; DAP12 signaling; DAP12 signaling; Signal regulatory protein family interactions; Other semaphorin interactions; Neutrophil degranulation",""
"1029",1.81235154080891e-166,0.665010189350981,0.996,0.816,4.18218241557064e-162,"7","CTSB","cathepsin B","0, 1, 7","neutrophil granulocyte, progenitor","This gene encodes a member of the C1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to form the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer's disease, the most common cause of dementia. Overexpression of the encoded protein has been associated with esophageal adenocarcinoma and other tumors. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Nov 2015]","Collagen degradation; Trafficking and processing of endosomal TLR; Assembly of collagen fibrils and other multimeric structures; MHC class II antigen presentation; Neutrophil degranulation","Cathepsins"
"1030",1.35738731063631e-165,0.622101321223074,1,0.929,3.13230695802436e-161,"7","TMSB4X","thymosin beta 4 X-linked","0, 7","megakaryocyte","This gene encodes an actin sequestering protein which plays a role in regulation of actin polymerization. The protein is also involved in cell proliferation, migration, and differentiation. This gene escapes X inactivation and has a homolog on chromosome Y. [provided by RefSeq, Jul 2008]","Platelet degranulation ",""
"1031",3.08478660522939e-165,0.603562780715113,0.946,0.645,7.11845357022734e-161,"7","DEK","DEK proto-oncogene","","","This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]","B-WICH complex positively regulates rRNA expression; Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors",""
"1032",5.14289570972145e-165,0.585448260227501,0.809,0.367,1.18677461397532e-160,"7","TYMS","thymidylate synthetase","","","Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using, 10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occurring antisense transcript, mitochondrial enolase superfamily member 1 (GeneID:55556), vary inversely when cell-growth progresses from late-log to plateau phase. Polymorphisms in this gene may be associated with etiology of neoplasia, including breast cancer, and response to chemotherapy. [provided by RefSeq, Aug 2017]","Interconversion of nucleotide di- and triphosphates; Activation of E2F1 target genes at G1/S",""
"1033",1.2504162669224e-161,0.688000056568472,1,1,2.88546057755012e-157,"7","FTL","ferritin light chain","0, 1, 7","neutrophil granulocyte","This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]","Scavenging by Class A Receptors; Golgi Associated Vesicle Biogenesis; Neutrophil degranulation; Iron uptake and transport","Ferritin subunits"
"1034",1.7549687093699e-156,0.569674106826435,1,0.893,4.04976579374198e-152,"7","SH3BGRL3","SH3 domain binding glutamate rich protein like 3","0, 7","","Not available","",""
"1035",6.24910763079949e-156,0.699037102027949,0.997,0.831,1.44204407688329e-151,"7","S100A4","S100 calcium binding protein A4","0, 1, 12, 7","","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]","","S100 calcium binding proteins|EF-hand domain containing"
"1036",5.26281654689761e-155,0.693480158856183,0.996,0.63,1.21444754636209e-150,"7","LYVE1","lymphatic vessel endothelial hyaluronan receptor 1","0, 1, 7","","This gene encodes a type I integral membrane glycoprotein. The encoded protein acts as a receptor and binds to both soluble and immobilized hyaluronan. This protein may function in lymphatic hyaluronan transport and have a role in tumor metastasis. [provided by RefSeq, Jul 2008]","Hyaluronan uptake and degradation",""
"1037",2.21755106659105e-152,0.664268492226459,0.978,0.669,5.1172208412655e-148,"7","HCST","hematopoietic cell signal transducer","0, 1, 7","lymphoid","This gene encodes a transmembrane signaling adaptor that contains a YxxM motif in its cytoplasmic domain. The encoded protein may form part of the immune recognition receptor complex with the C-type lectin-like receptor NKG2D. As part of this receptor complex, this protein may activate phosphatidylinositol 3-kinase dependent signaling pathways through its intracytoplasmic YxxM motif. This receptor complex may have a role in cell survival and proliferation by activation of NK and T cell responses. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell",""
"1038",2.64541269974603e-151,0.57654874724363,0.996,0.805,6.10455434593394e-147,"7","CTSD","cathepsin D","0, 7","neutrophil granulocyte","This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]","Collagen degradation; Metabolism of Angiotensinogen to Angiotensins; MHC class II antigen presentation; Neutrophil degranulation; Estrogen-dependent gene expression","Cathepsins"
"1039",4.05119048992142e-150,0.605941447584591,0.959,0.709,9.34852717454267e-146,"7","CKS2","CDC28 protein kinase regulatory subunit 2","10, 7","","CKS2 protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS2 mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects specialized role for the encoded protein. [provided by RefSeq, Jul 2008]","",""
"1040",4.19121646204701e-149,0.640289658922453,1,0.761,9.67165110781969e-145,"7","FCER1G","Fc fragment of IgE receptor Ig","0, 1, 7","megakaryocyte, neutrophil granulocyte","The high affinity IgE receptor is a key molecule involved in allergic reactions. It is a tetramer composed of 1 alpha, 1 beta, and 2 gamma chains. The gamma chains are also subunits of other Fc receptors. [provided by RefSeq, Jul 2008]","GPVI-mediated activation cascade; Cell surface interactions at the vascular wall; Fc epsilon receptor (FCERI) signaling; Fc epsilon receptor (FCERI) signaling; Role of LAT2/NTAL/LAB on calcium mobilization; Role of LAT2/NTAL/LAB on calcium mobilization; FCERI mediated MAPK activation; FCERI mediated Ca+2 mobilization; FCERI mediated Ca+2 mobilization; FCERI mediated NF-kB activation; Dectin-2 family; Dectin-2 family; Neutrophil degranulation; Platelet Adhesion to exposed collagen",""
"1041",4.567237952812e-149,0.585229540805959,0.908,0.594,1.0539358299909e-144,"7","C20orf24","C20orf24","","","C20orf24","C20orf24","C20orf24"
"1042",1.42655620810989e-146,0.593488267756772,0.982,0.659,3.29192110583438e-142,"7","MAF","MAF bZIP transcription factor","0, 12, 7","osteoblast","The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]","RUNX2 regulates osteoblast differentiation","Basic leucine zipper proteins"
"1043",4.77354474249266e-140,0.617465582864766,0.991,0.712,1.10154318477761e-135,"7","CD14","CD14 molecule","0, 1, 7","macrophage, monocyte, neutrophil granulocyte","The protein encoded by this gene is a surface antigen that is preferentially expressed on monocytes/macrophages. It cooperates with other proteins to mediate the innate immune response to bacterial lipopolysaccharide. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Mar 2010]","ER-Phagosome pathway; via Death Receptors in the presence of ligand; Toll Like Receptor 4 (TLR4) Cascade; Transfer of LPS from LBP carrier to CD14; MyD88:Mal cascade initiated on plasma membrane; MyD88-independent TLR4 cascade ; Toll Like Receptor TLR1:TLR2 Cascade; Toll Like Receptor TLR6:TLR2 Cascade; TRIF-mediated programmed cell death; MyD88 deficiency (TLR2/4); IRAK4 deficiency (TLR2/4); Regulation of TLR by endogenous ligand; Neutrophil degranulation; TICAM1,TRAF6-dependent induction of TAK1 complex; Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon; IKK complex recruitment mediated by RIP1; TRAF6-mediated induction of TAK1 complex within TLR4 complex; IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation","CD molecules|Scavenger receptors"
"1044",3.82873668328996e-137,0.643687077207303,0.999,0.717,8.83519277035991e-133,"7","DAB2","DAB2, clathrin adaptor protein","0, 12, 7","","This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]","Gap junction degradation; Formation of annular gap junctions; Cargo recognition for clathrin-mediated endocytosis; Clathrin-mediated endocytosis",""
"1045",1.04826624155602e-135,0.701090753300801,0.827,0.447,2.41897917901468e-131,"7","IER5","immediate early response 5","10, 7","","This gene encodes a protein that is similar to other immediate early response proteins. In the mouse, a similar gene may play an important role in mediating the cellular response to mitogenic signals. Studies in rats found the expression of a similar gene to be increased after waking and sleep deprivation. [provided by RefSeq, Jul 2008]","",""
"1046",7.21806315321401e-134,0.676602799556815,0.901,0.548,1.66564025323566e-129,"7","RETN","resistin","0, 1, 7","adipocytes, neutrophil granulocyte","This gene belongs to the family defined by the mouse resistin-like genes. The characteristic feature of this family is the C-terminal stretch of 10 cys residues with identical spacing. The mouse homolog of this protein is secreted by adipocytes, and may be the hormone potentially linking obesity to type II diabetes. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]","Neutrophil degranulation",""
"1047",1.53798839858231e-133,0.659842460346729,0.951,0.681,3.54906202856854e-129,"7","HSPA1B","heat shock protein family A (Hsp70) member 1B","10, 2, 7","neutrophil granulocyte","This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008]","Regulation of HSF1-mediated heat shock response; HSP90 chaperone cycle for steroid hormone receptors (SHR); HSF1 activation; Attenuation phase; HSF1-dependent transactivation; Neutrophil degranulation","Heat shock 70kDa proteins|TIM23 complex"
"1048",2.47839584404449e-131,0.57871721043934,0.957,0.614,5.71914624971708e-127,"7","CORO1A","coronin 1A","","","This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. A related pseudogene has been defined on chromosome 16. [provided by RefSeq, Sep 2010]","","WD repeat domain containing|Coronins"
"1049",8.84981808516218e-129,0.632336446927696,0.999,0.868,2.04218402133202e-124,"7","LGALS1","galectin 1","0, 1, 7","","The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. This gene product may act as an autocrine negative growth factor that regulates cell proliferation. [provided by RefSeq, Jul 2008]","Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Post-translational protein phosphorylation","Endogenous ligands|Galectins"
"1050",5.66019647813838e-122,0.587728208750442,0.985,0.789,1.30614693929521e-117,"7","HSPA1A","heat shock protein family A (Hsp70) member 1A","10, 2, 7","neutrophil granulocyte","This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008]","Viral RNP Complexes in the Host Cell Nucleus; Regulation of HSF1-mediated heat shock response; HSP90 chaperone cycle for steroid hormone receptors (SHR); HSF1 activation; Attenuation phase; HSF1-dependent transactivation; AUF1 (hnRNP D0) binds and destabilizes mRNA; Neutrophil degranulation","Heat shock 70kDa proteins|TIM23 complex"
"1051",0,4.03247140481252,1,0.654,0,"8","APOA2","apolipoprotein A2","","","This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia. [provided by RefSeq, Jul 2008]","PPARA activates gene expression; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Post-translational protein phosphorylation; Chylomicron assembly; Chylomicron remodeling; Retinoid metabolism and transport; Retinoid metabolism and transport","Apolipoproteins"
"1052",0,3.93887882267057,1,0.706,0,"8","TTR","transthyretin","","neutrophil granulocyte","This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]","Retinoid cycle disease events; The canonical retinoid cycle in rods (twilight vision); Non-integrin membrane-ECM interactions; Neutrophil degranulation; Retinoid metabolism and transport; Amyloid fiber formation","Gla domain containing"
"1053",0,3.89585677923698,1,0.555,0,"8","APOC3","apolipoprotein C3","","","This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs through multiple modes. This protein has been shown to promote the secretion of VLDL1, inhibit lipoprotein lipase enzyme activity, and delay catabolism of TRL remnants. Mutations in this gene are associated with low plasma triglyceride levels and reduced risk of ischemic cardiovascular disease, and hyperalphalipoproteinemia, which is characterized by elevated levels of high density lipoprotein (HDL) and HDL cholesterol in human patients. This gene and other related genes comprise an apolipoprotein gene cluster on chromosome 11. [provided by RefSeq, Sep 2017]","Chylomicron assembly; Chylomicron remodeling; HDL remodeling; Retinoid metabolism and transport; Retinoid metabolism and transport","Apolipoproteins"
"1054",0,3.78902874449329,1,0.469,0,"8","AHSG","alpha 2-HS glycoprotein","","hepatocyte, megakaryocyte, neutrophil granulocyte","The protein encoded by this gene is a negatively-charged serum glycoprotein that is synthesized by hepatocytes. The encoded protein consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several processes, including endocytosis, brain development, and the formation of bone tissue. Defects in this gene are a cause of susceptibility to leanness. [provided by RefSeq, Aug 2017]","Platelet degranulation ; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Neutrophil degranulation; Post-translational protein phosphorylation","Cystatins, type 4"
"1055",0,3.72385563653557,1,0.396,0,"8","RBP4","retinol binding protein 4","",""," This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008]","Retinoid cycle disease events; The canonical retinoid cycle in rods (twilight vision); Retinoid metabolism disease events; Retinoid metabolism and transport","Lipocalins"
"1056",0,3.63842701620436,0.999,0.532,0,"8","AFP","alpha fetoprotein","18, 8","","This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Jul 2008]","Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Post-translational protein phosphorylation",""
"1057",0,3.54842352539601,0.997,0.457,0,"8","APOM","apolipoprotein M","","","The protein encoded by this gene is an apolipoprotein and member of the lipocalin protein family. It is found associated with high density lipoproteins and to a lesser extent with low density lipoproteins and triglyceride-rich lipoproteins. The encoded protein is secreted through the plasma membrane but remains membrane-bound, where it is involved in lipid transport. Alternate splicing results in both coding and non-coding variants of this gene. [provided by RefSeq, Jan 2012]","Retinoid metabolism and transport","Apolipoproteins|Lipocalins"
"1058",0,3.52179256564482,0.999,0.52,0,"8","SERPINA1","serpin family A member 1","","megakaryocyte, neutrophil granulocyte","The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]","Platelet degranulation ; COPII-mediated vesicle transport; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Cargo concentration in the ER; Neutrophil degranulation; Post-translational protein phosphorylation","Serpin peptidase inhibitors"
"1059",0,3.40634595795306,0.999,0.363,0,"8","FABP1","fatty acid binding protein 1","","","This gene encodes the fatty acid binding protein found in liver. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. This protein and FABP6 (the ileal fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Mar 2011]","Triglyceride catabolism; PPARA activates gene expression; Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)","Fatty acid binding protein family"
"1060",0,3.40207261997932,1,0.552,0,"8","APOA1","apolipoprotein A1","18, 8","megakaryocyte","This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]","Platelet degranulation ; ABC transporters in lipid homeostasis; PPARA activates gene expression; Scavenging of heme from plasma; Scavenging by Class B Receptors; Scavenging by Class B Receptors; Scavenging by Class A Receptors; Scavenging by Class A Receptors; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Post-translational protein phosphorylation; Chylomicron assembly; HDL assembly; Chylomicron remodeling; HDL clearance; HDL remodeling; Retinoid metabolism and transport; Retinoid metabolism and transport; Amyloid fiber formation","Apolipoproteins"
"1061",0,3.21821606268599,0.996,0.36,0,"8","VTN","vitronectin","18, 8","","The protein encoded by this gene is a member of the pexin family. It is found in serum and tissues and promotes cell adhesion and spreading, inhibits the membrane-damaging effect of the terminal cytolytic complement pathway, and binds to several serpin serine protease inhibitors. It is a secreted protein and exists in either a single chain form or a clipped, two chain form held together by a disulfide bond. [provided by RefSeq, Jul 2008]","Molecules associated with elastic fibres; Integrin cell surface interactions; Syndecan interactions; ECM proteoglycans; ECM proteoglycans; Regulation of Complement cascade","Endogenous ligands|Complement system regulators and receptors"
"1062",0,3.07162874613673,0.984,0.221,0,"8","FGG","fibrinogen gamma chain","","megakaryocyte","The protein encoded by this gene is the gamma component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]","Platelet degranulation ; Common Pathway of Fibrin Clot Formation; Integrin cell surface interactions; Integrin alphaIIb beta3 signaling; GRB2:SOS provides linkage to MAPK signaling for Integrins ; p130Cas linkage to MAPK signaling for integrins; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); MAP2K and MAPK activation; Regulation of TLR by endogenous ligand; Signaling by moderate kinase activity BRAF mutants; Signaling by high-kinase activity BRAF mutants; Signaling by RAS mutants; Signaling by BRAF and RAF fusions; Paradoxical activation of RAF signaling by kinase inactive BRAF; Post-translational protein phosphorylation","Endogenous ligands|Fibrinogen C domain containing"
"1063",0,2.9728698303859,0.975,0.3,0,"8","APOA4","apolipoprotein A4","","","Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon.  The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles.  Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008]","Chylomicron assembly; Assembly of active LPL and LIPC lipase complexes; Chylomicron remodeling; Retinoid metabolism and transport; Retinoid metabolism and transport; Amyloid fiber formation","Apolipoproteins"
"1064",0,2.9519420369277,0.996,0.73,0,"8","MT1H","metallothionein 1H","22, 3, 8","","Not available","Metallothioneins bind metals","Metallothioneins"
"1065",0,2.94640194552671,1,0.306,0,"8","SPINK1","serine peptidase inhibitor, Kazal type 1","18, 8","gastric gland zymogenic cell, pancreatic acinar cell","The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008]","","Serine peptidase inhibitors, Kazal type"
"1066",0,2.9427794310842,0.993,0.261,0,"8","FGB","fibrinogen beta chain","18, 8","megakaryocyte","The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]","Platelet degranulation ; Common Pathway of Fibrin Clot Formation; Integrin cell surface interactions; Integrin alphaIIb beta3 signaling; GRB2:SOS provides linkage to MAPK signaling for Integrins ; p130Cas linkage to MAPK signaling for integrins; MAP2K and MAPK activation; Regulation of TLR by endogenous ligand; Signaling by moderate kinase activity BRAF mutants; Signaling by high-kinase activity BRAF mutants; Signaling by RAS mutants; Signaling by BRAF and RAF fusions; Paradoxical activation of RAF signaling by kinase inactive BRAF","Endogenous ligands|Fibrinogen C domain containing"
"1067",0,2.93539220871832,0.987,0.183,0,"8","GSTA2","glutathione S-transferase alpha 2","","","Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes function in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding these enzymes are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of some drugs. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, located in a cluster mapped to chromosome 6, are the most abundantly expressed glutathione S-transferases in liver. In addition to metabolizing bilirubin and certain anti-cancer drugs in the liver, the alpha class of these enzymes exhibit glutathione peroxidase activity thereby protecting the cells from reactive oxygen species and the products of peroxidation. [provided by RefSeq, Jul 2008]","Glutathione conjugation; Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation","Soluble glutathione S-transferases"
"1068",0,2.82223399801831,0.962,0.285,0,"8","TF","transferrin","","megakaryocyte","This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter and allergens from serum. [provided by RefSeq, Sep 2009]","Platelet degranulation ; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Cargo recognition for clathrin-mediated endocytosis; Clathrin-mediated endocytosis; Post-translational protein phosphorylation; Iron uptake and transport; Transferrin endocytosis and recycling","Transferrins"
"1069",0,2.77576320798311,0.997,0.814,0,"8","MT1G","metallothionein 1G","22, 3, 8","","Not available","Metallothioneins bind metals","Metallothioneins"
"1070",0,2.61692098187817,1,0.602,0,"8","APOC1","apolipoprotein C1","15, 8","macrophage, monocyte","This gene encodes a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. The encoded protein plays a central role in high density lipoprotein (HDL) and very low density lipoprotein (VLDL) metabolism. This protein has also been shown to inhibit cholesteryl ester transfer protein in plasma. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Sep 2016]","VLDL assembly; VLDL clearance; VLDL clearance","Apolipoproteins"
"1071",0,2.59540730079595,0.963,0.143,0,"8","GSTA1","glutathione S-transferase alpha 1","","","This gene encodes a member of a family of enzymes that function to add glutathione to target electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins, and products of oxidative stress. This action is an important step in detoxification of these compounds. This subfamily of enzymes has a particular role in protecting cells from reactive oxygen species and the products of peroxidation. Polymorphisms in this gene influence the ability of individuals to metabolize different drugs. This gene is located in a cluster of similar genes and pseudogenes on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]","Glutathione conjugation","Soluble glutathione S-transferases"
"1072",0,2.54278969700756,0.984,0.072,0,"8","APOC2","apolipoprotein C2","","","This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011]","Chylomicron assembly; Assembly of active LPL and LIPC lipase complexes; Chylomicron remodeling; HDL remodeling; Retinoid metabolism and transport; Retinoid metabolism and transport","Apolipoproteins"
"1073",0,2.24547233000276,0.991,0.436,0,"8","MT1F","metallothionein 1F","22, 3, 8","","Not available","Metallothioneins bind metals","Metallothioneins"
"1074",0,2.23828308993577,0.975,0.181,0,"8","MGST1","microsomal glutathione S-transferase 1","","neutrophil granulocyte","The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, two of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. Other family members, demonstrating glutathione S-transferase and peroxidase activities, are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. This gene encodes a protein that catalyzes the conjugation of glutathione to electrophiles and the reduction of lipid hydroperoxides. This protein is localized to the endoplasmic reticulum and outer mitochondrial membrane where it is thought to protect these membranes from oxidative stress. Several transcript variants, some non-protein coding and some protein coding, have been found for this gene. [provided by RefSeq, May 2012]","Glutathione conjugation; Aflatoxin activation and detoxification; Neutrophil degranulation","Microsomal glutathione S-transferases"
"1075",0,2.20173783467327,0.899,0.138,0,"8","FGA","fibrinogen alpha chain","18, 8","megakaryocyte","This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016]","Platelet degranulation ; Common Pathway of Fibrin Clot Formation; Integrin cell surface interactions; Integrin alphaIIb beta3 signaling; GRB2:SOS provides linkage to MAPK signaling for Integrins ; p130Cas linkage to MAPK signaling for integrins; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); MAP2K and MAPK activation; Regulation of TLR by endogenous ligand; Signaling by moderate kinase activity BRAF mutants; Signaling by high-kinase activity BRAF mutants; Signaling by RAS mutants; Signaling by BRAF and RAF fusions; Paradoxical activation of RAF signaling by kinase inactive BRAF; Post-translational protein phosphorylation; Amyloid fiber formation","Endogenous ligands|Fibrinogen C domain containing"
"1076",0,2.17801734089129,0.943,0.152,0,"8","AMBP","alpha-1-microglobulin/bikunin precursor","","progenitor","This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes. [provided by RefSeq, Jul 2008]","Scavenging of heme from plasma","Lipocalins"
"1077",0,2.08972554114396,0.96,0.211,0,"8","PRAP1","proline rich acidic protein 1","18, 8","","Not available","",""
"1078",0,2.08241515326264,0.993,0.422,0,"8","APOE","apolipoprotein E","18, 8","","The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]","Scavenging by Class A Receptors; Scavenging by Class A Receptors; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors; Post-translational protein phosphorylation; Chylomicron assembly; Chylomicron remodeling; Chylomicron clearance; Chylomicron clearance; HDL remodeling; Retinoid metabolism and transport; Retinoid metabolism and transport","Apolipoproteins"
"1079",0,2.05248424054371,0.912,0.088,0,"8","RBP2","retinol binding protein 2","","","This gene encodes an abundant protein present in the small intestinal epithelium. It is thought to participate in the uptake and/or intracellular metabolism of vitamin A. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. This protein may also modulate the supply of retinoic acid to the nuclei of endometrial cells during the menstrual cycle. [provided by RefSeq, Aug 2015]","Retinoid metabolism and transport","Fatty acid binding protein family"
"1080",0,1.9822705489172,0.947,0.277,0,"8","MSMO1","methylsterol monooxygenase 1","","","Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localized to the endoplasmic reticulum membrane and is believed to function in cholesterol biosynthesis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","Cholesterol biosynthesis","Fatty acid hydroxylase domain containing"
"1081",0,1.94793585439227,0.956,0.262,0,"8","GPC3","glypican 3","18, 4, 8","","Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]","A tetrasaccharide linker sequence is required for GAG synthesis; HS-GAG biosynthesis; HS-GAG biosynthesis; HS-GAG degradation; Defective B4GALT7 causes EDS, progeroid type; Defective B3GAT3 causes JDSSDHD; Defective EXT2 causes exostoses 2; Defective EXT1 causes exostoses 1, TRPS2 and CHDS; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Defective B3GALT6 causes EDSP2 and SEMDJL1; Post-translational protein phosphorylation; Retinoid metabolism and transport","Glypicans"
"1082",0,1.72175326450461,0.74,0.09,0,"8","APOB","apolipoprotein B","","megakaryocyte","This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Jul 2008]","Cell surface interactions at the vascular wall; Scavenging by Class B Receptors; Scavenging by Class B Receptors; Scavenging by Class A Receptors; Scavenging by Class A Receptors; Scavenging by Class F Receptors; Scavenging by Class F Receptors; Scavenging by Class H Receptors; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Platelet sensitization by LDL; Regulation of TLR by endogenous ligand; Cargo recognition for clathrin-mediated endocytosis; Clathrin-mediated endocytosis; VLDL assembly; Post-translational protein phosphorylation; Chylomicron assembly; Chylomicron remodeling; Chylomicron clearance; Chylomicron clearance; LDL clearance; LDL clearance; LDL remodeling; VLDL clearance; VLDL clearance; Retinoid metabolism and transport; Retinoid metabolism and transport","Apolipoproteins"
"1083",0,1.69156368666625,0.91,0.076,0,"8","SERPINA6","serpin family A member 6","","","This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008]","","Serpin peptidase inhibitors"
"1084",0,1.67738147504102,0.856,0.084,0,"8","AGT","angiotensinogen","","progenitor","The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Jul 2008]","PPARA activates gene expression; Metabolism of Angiotensinogen to Angiotensins; Metabolism of Angiotensinogen to Angiotensins; Peptide ligand-binding receptors; G alpha (q) signalling events; G alpha (i) signalling events","Endogenous ligands|Serpin peptidase inhibitors"
"1085",0,1.60056895713745,0.938,0.082,0,"8","LGALS2","galectin 2","","","The protein encoded by this gene is a soluble beta-galactoside binding lectin. The encoded protein is found as a homodimer and can bind to lymphotoxin-alpha. A single nucleotide polymorphism in an intron of this gene can alter the transcriptional level of the protein, with a resultant increased risk of myocardial infarction. [provided by RefSeq, Jul 2008]","","Galectins"
"1086",0,1.59133074594439,0.974,0.472,0,"8","MT1E","metallothionein 1E","14, 22, 3, 8","","Not available","Metallothioneins bind metals","Metallothioneins"
"1087",0,1.5775167176009,0.863,0.058,0,"8","SERPINA7","serpin family A member 7","","","There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.[provided by RefSeq, Jun 2012]","","Serpin peptidase inhibitors"
"1088",0,1.55818855871659,0.778,0.11,0,"8","MT1M","metallothionein 1M","21, 22, 8","adrenal gland secreting steroid hormones mineralocorticoids glucocorticoid","This gene encodes a member of the metallothionein superfamily, type 1 family. Metallothioneins have a high content of cysteine residues that bind various heavy metals. These genes are transcriptionally regulated by both heavy metals and glucocorticoids. [provided by RefSeq, Oct 2011]","Metallothioneins bind metals","Metallothioneins"
"1089",0,1.51820760231449,0.913,0.157,0,"8","FKBP11","FK506 binding protein 11","16, 8","","FKBP11 belongs to the FKBP family of peptidyl-prolyl cis/trans isomerases, which catalyze the folding of proline-containing polypeptides. The peptidyl-prolyl isomerase activity of FKBP proteins is inhibited by the immunosuppressant compounds FK506 and rapamycin (Rulten et al., 2006 [PubMed 16596453]).[supplied by OMIM, Mar 2008]","","FKBP prolyl isomerases"
"1090",0,1.4641797903284,0.849,0.065,0,"8","HPX","hemopexin","","","This gene encodes a plasma glycoprotein that binds heme with high affinity. The encoded protein is an acute phase protein that transports heme from the plasma to the liver and may be involved in protecting cells from oxidative stress. [provided by RefSeq, Apr 2009]","Scavenging of heme from plasma",""
"1091",0,1.44971194116964,0.966,0.314,0,"8","LGALS3","galectin 3","15, 8","myeloid, neutrophil granulocyte","This gene encodes a member of the galectin family of carbohydrate binding proteins. Members of this protein family have an affinity for beta-galactosides. The encoded protein is characterized by an N-terminal proline-rich tandem repeat domain and a single C-terminal carbohydrate recognition domain. This protein can self-associate through the N-terminal domain allowing it to bind to multivalent saccharide ligands. This protein localizes to the extracellular matrix, the cytoplasm and the nucleus. This protein plays a role in numerous cellular functions including apoptosis, innate immunity, cell adhesion and T-cell regulation. The protein exhibits antimicrobial activity against bacteria and fungi. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2014]","Neutrophil degranulation; Advanced glycosylation endproduct receptor signaling; RUNX1 regulates transcription of genes involved in differentiation of myeloid cells; RUNX2 regulates genes involved in differentiation of myeloid cells","Endogenous ligands|Galectins"
"1092",0,1.39584957003377,0.882,0.153,0,"8","CLU","clusterin","","megakaryocyte","The protein encoded by this gene is a secreted chaperone that can under some stress conditions also be found in the cell cytosol. It has been suggested to be involved in several basic biological events such as cell death, tumor progression, and neurodegenerative disorders. Alternate splicing results in both coding and non-coding variants.[provided by RefSeq, May 2011]","Platelet degranulation ; Terminal pathway of complement; Antimicrobial peptides; Regulation of Complement cascade","Complement system regulators and receptors"
"1093",0,1.39480584481471,0.953,0.363,0,"8","EBP","EBP, cholestenol delta-isomerase","","","The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008]","Cholesterol biosynthesis via desmosterol; Cholesterol biosynthesis via lathosterol",""
"1094",0,1.38670684460895,0.953,0.507,0,"8","FDPS","farnesyl diphosphate synthase","","","This gene encodes an enzyme that catalyzes the production of geranyl pyrophosphate and farnesyl pyrophosphate from isopentenyl pyrophosphate and dimethylallyl pyrophosphate. The resulting product, farnesyl pyrophosphate, is a key intermediate in cholesterol and sterol biosynthesis, a substrate for protein farnesylation and geranylgeranylation, and a ligand or agonist for certain hormone receptors and growth receptors. Drugs that inhibit this enzyme prevent the post-translational modifications of small GTPases and have been used to treat diseases related to bone resorption. Multiple pseudogenes have been found on chromosomes 1, 7, 14, 15, 21 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]","Cholesterol biosynthesis; Activation of gene expression by SREBF (SREBP)",""
"1095",0,1.37967533932224,0.91,0.047,0,"8","S100A14","S100 calcium binding protein A14","","","This gene encodes a member of the S100 protein family which contains an EF-hand motif and binds calcium. The gene is located in a cluster of S100 genes on chromosome 1. Levels of the encoded protein have been found to be lower in cancerous tissue and associated with metastasis suggesting a tumor suppressor function (PMID: 19956863, 19351828). [provided by RefSeq, Dec 2011]","","S100 calcium binding proteins"
"1096",0,1.37221116880236,1,0.873,0,"8","CST3","cystatin C","12, 2, 8","neutrophil granulocyte, smooth muscle cell","The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014]","Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Neutrophil degranulation; Post-translational protein phosphorylation; Amyloid fiber formation","Cystatins, type 2"
"1097",0,1.33568603034345,0.988,0.755,0,"8","TMEM256","transmembrane protein 256","","","Not available","",""
"1098",0,1.33039806868112,0.907,0.127,0,"8","REEP6","receptor accessory protein 6","","neuron retina horizontal cell","The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77. [provided by RefSeq, May 2017]","Olfactory Signaling Pathway","Receptor accessory proteins"
"1099",0,1.27377762841368,0.875,0.069,0,"8","OXT","oxytocin/neurophysin I prepropeptide","","anterior pituitary cells gonadotropes, progenitor","This gene encodes a precursor protein that is processed to produce oxytocin and neurophysin I. Oxytocin is a posterior pituitary hormone which is synthesized as an inactive precursor in the hypothalamus along with its carrier protein neurophysin I. Together with neurophysin, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis, where it is either stored or secreted into the bloodstream. The precursor seems to be activated while it is being transported along the axon to the posterior pituitary. This hormone contracts smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. [provided by RefSeq, Dec 2013]","Vasopressin-like receptors; G alpha (q) signalling events","Endogenous ligands"
"1100",3.18492460544762e-295,2.5912070764954,0.881,0.3,7.34953201953093e-291,"8","ALB","albumin","18, 8","megakaryocyte","This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additionally, this protein exhibits an esterase-like activity with broad substrate specificity. The encoded preproprotein is proteolytically processed to generate the mature protein. A peptide derived from this protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine receptor. [provided by RefSeq, Jul 2016]","Platelet degranulation ; Recycling of bile acids and salts; Scavenging of heme from plasma; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs); Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR); Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR); Transport of organic anions; Post-translational protein phosphorylation; HDL remodeling",""
"1101",0,1.6993347407557,0.338,0.02,0,"9","JCHAIN","joining chain of multimeric IgA and IgM","","","Not available","Cell surface interactions at the vascular wall; Scavenging of heme from plasma",""
"1102",0,1.23606875141459,0.823,0.182,0,"9","LSP1","lymphocyte specific protein 1","15, 19, 9","endothelial cells, macrophage, neutrophil granulocyte","This gene encodes an intracellular F-actin binding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","",""
"1103",0,1.1571009228466,0.773,0.078,0,"9","PLAC8","placenta specific 8","19, 9","neutrophil granulocyte","Not available","Neutrophil degranulation",""
"1104",0,0.981403434442821,0.603,0.015,0,"9","SPINK2","serine peptidase inhibitor, Kazal type 2","","","This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]","","Serine peptidase inhibitors, Kazal type"
"1105",0,0.76286914974952,0.548,0.056,0,"9","S100B","S100 calcium binding protein B","","","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 21q22.3. This protein may function in Neurite extension, proliferation of melanoma cells, stimulation of Ca2+ fluxes, inhibition of PKC-mediated phosphorylation, astrocytosis and axonal proliferation, and inhibition of microtubule assembly. Chromosomal rearrangements and altered expression of this gene have been implicated in several neurological, neoplastic, and other types of diseases, including Alzheimer's disease, Down's syndrome, epilepsy, amyotrophic lateral sclerosis, melanoma, and type I diabetes. [provided by RefSeq, Jul 2008]","Nuclear signaling by ERBB4; TAK1 activates NFkB by phosphorylation and activation of IKKs complex; Advanced glycosylation endproduct receptor signaling; Advanced glycosylation endproduct receptor signaling; TRAF6 mediated NF-kB activation","S100 calcium binding proteins|EF-hand domain containing"
"1106",1.16712452268423e-307,0.915177229542443,1,0.959,2.69325654854613e-303,"9","RPS3","ribosomal protein S3","","","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit, where it forms part of the domain where translation is initiated. The protein belongs to the S3P family of ribosomal proteins. Studies of the mouse and rat proteins have demonstrated that the protein has an extraribosomal role as an endonuclease involved in the repair of UV-induced DNA damage. The protein appears to be located in both the cytoplasm and nucleus but not in the nucleolus. Higher levels of expression of this gene in colon adenocarcinomas and adenomatous polyps compared to adjacent normal colonic mucosa have been observed. This gene is co-transcribed with the small nucleolar RNA genes U15A and U15B, which are located in its first and fifth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Translation initiation complex formation; Formation of a pool of free 40S subunits; Formation of the ternary complex, and subsequently, the 43S complex; Ribosomal scanning and start codon recognition; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","S ribosomal proteins"
"1107",6.29299720202418e-306,0.891402246485909,1,0.96,1.4521720343391e-301,"9","RPS2","ribosomal protein S2","","","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S5P family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with mouse LLRep3. It is co-transcribed with the small nucleolar RNA gene U64, which is located in its third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; RMTs methylate histone arginines; rRNA modification in the nucleus and cytosol; Major pathway of rRNA processing in the nucleolus and cytosol; Translation initiation complex formation; Formation of a pool of free 40S subunits; Formation of the ternary complex, and subsequently, the 43S complex; Ribosomal scanning and start codon recognition; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Protein methylation; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","S ribosomal proteins"
"1108",6.89951674891662e-298,0.683877070085792,1,0.951,1.59213248498e-293,"9","RPL19","ribosomal protein L19","","","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L19E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Formation of a pool of free 40S subunits; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","L ribosomal proteins"
"1109",7.836874734539e-295,0.873649330891679,1,0.931,1.80843721374222e-290,"9","RPSA","ribosomal protein SA","","progenitor","Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Many of the effects of laminin are mediated through interactions with cell surface receptors. These receptors include members of the integrin family, as well as non-integrin laminin-binding proteins. This gene encodes a high-affinity, non-integrin family, laminin receptor 1. This receptor has been variously called 67 kD laminin receptor, 37 kD laminin receptor precursor (37LRP) and p40 ribosome-associated protein. The amino acid sequence of laminin receptor 1 is highly conserved through evolution, suggesting a key biological function. It has been observed that the level of the laminin receptor transcript is higher in colon carcinoma tissue and lung cancer cell line than their normal counterparts. Also, there is a correlation between the upregulation of this polypeptide in cancer cells and their invasive and metastatic phenotype. Multiple copies of this gene exist, however, most of them are pseudogenes thought to have arisen from retropositional events. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Translation initiation complex formation; Formation of a pool of free 40S subunits; Formation of the ternary complex, and subsequently, the 43S complex; Ribosomal scanning and start codon recognition; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)",""
"1110",1.04648709783211e-294,1.58396210896067,0.704,0.157,2.41487362695738e-290,"9","ACY3","aminoacylase 3","","","Not available","Aflatoxin activation and detoxification",""
"1111",1.56872853897521e-290,0.74813567737026,1,0.959,3.61999797653919e-286,"9","RPL18A","ribosomal protein L18a","","","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18AE family of ribosomal proteins that is a component of the 60S subunit. The encoded protein may play a role in viral replication by interacting with the hepatitis C virus internal ribosome entry site (IRES). This gene is co-transcribed with the U68 snoRNA, located within the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Formation of a pool of free 40S subunits; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","L ribosomal proteins"
"1112",5.32230868905813e-274,0.869074126458297,1,0.947,1.22817595308705e-269,"9","RPS4X","ribosomal protein S4 X-linked","","","Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, Y-linked (RPS4Y). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. This gene is not subject to X-inactivation. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Translation initiation complex formation; Formation of a pool of free 40S subunits; Formation of the ternary complex, and subsequently, the 43S complex; Ribosomal scanning and start codon recognition; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","S ribosomal proteins"
"1113",1.11913819528732e-273,0.79829962495468,1,0.949,2.58252329944501e-269,"9","RPS6","ribosomal protein S6","","","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 40S subunit. The protein belongs to the S6E family of ribosomal proteins. It is the major substrate of protein kinases in the ribosome, with subsets of five C-terminal serine residues phosphorylated by different protein kinases. Phosphorylation is induced by a wide range of stimuli, including growth factors, tumor-promoting agents, and mitogens. Dephosphorylation occurs at growth arrest. The protein may contribute to the control of cell growth and proliferation through the selective translation of particular classes of mRNA. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; mTORC1-mediated signalling; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; rRNA modification in the nucleus and cytosol; Major pathway of rRNA processing in the nucleolus and cytosol; Translation initiation complex formation; Formation of a pool of free 40S subunits; Formation of the ternary complex, and subsequently, the 43S complex; Ribosomal scanning and start codon recognition; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","S ribosomal proteins"
"1114",2.41984197241931e-272,0.790059908252717,1,0.931,5.5840273355548e-268,"9","RPLP0","ribosomal protein lateral stalk subunit P0","","","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which is the functional equivalent of the E. coli L10 ribosomal protein, belongs to the L10P family of ribosomal proteins. It is a neutral phosphoprotein with a C-terminal end that is nearly identical to the C-terminal ends of the acidic ribosomal phosphoproteins P1 and P2. The P0 protein can interact with P1 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Formation of a pool of free 40S subunits; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","L ribosomal proteins"
"1115",9.64146027452695e-268,0.814583087414107,1,0.959,2.22486337294984e-263,"9","RPL7","ribosomal protein L7","","","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30P family of ribosomal proteins. It contains an N-terminal basic region-leucine zipper (BZIP)-like domain and the RNP consensus submotif RNP2. In vitro the BZIP-like domain mediates homodimerization and stable binding to DNA and RNA, with a preference for 28S rRNA and mRNA. The protein can inhibit cell-free translation of mRNAs, suggesting that it plays a regulatory role in the translation apparatus. It is located in the cytoplasm. The protein has been shown to be an autoantigen in patients with systemic autoimmune diseases, such as systemic lupus erythematosus. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Formation of a pool of free 40S subunits; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","L ribosomal proteins"
"1116",1.37425780104294e-266,0.683408203931581,1,0.956,3.17123730168668e-262,"9","RPS17","ribosomal protein S17","","","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17E family of ribosomal proteins and is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4. Alternative splicing of this gene results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Apr 2014]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Translation initiation complex formation; Formation of a pool of free 40S subunits; Formation of the ternary complex, and subsequently, the 43S complex; Ribosomal scanning and start codon recognition; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","S ribosomal proteins"
"1117",5.84800616377519e-265,0.752220380789764,1,0.941,1.34948590235276e-260,"9","RPS5","ribosomal protein S5","","","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Translation initiation complex formation; Formation of a pool of free 40S subunits; Formation of the ternary complex, and subsequently, the 43S complex; Ribosomal scanning and start codon recognition; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","S ribosomal proteins"
"1118",5.80276334082096e-264,0.85816561092536,1,0.89,1.33904566852784e-259,"9","EEF1B2","eukaryotic translation elongation factor 1 beta 2","","","This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' UTR. [provided by RefSeq, Jul 2008]","Eukaryotic Translation Elongation",""
"1119",1.4027408203241e-262,1.1067148947374,0.988,0.776,3.2369647169799e-258,"9","HMGA1","high mobility group AT-hook 1","","","This gene encodes a chromatin-associated protein involved in the regulation of gene transcription, integration of retroviruses into chromosomes, and the metastatic progression of cancer cells. The encoded protein preferentially binds to the minor groove of AT-rich regions in double-stranded DNA. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been identified on multiple chromosomes. [provided by RefSeq, Jan 2016]","Integration of provirus; 2-LTR circle formation; Integration of viral DNA into host genomic DNA; Autointegration results in viral DNA circles; APOBEC3G mediated resistance to HIV-1 infection; Vpr-mediated nuclear import of PICs; Formation of Senescence-Associated Heterochromatin Foci (SAHF)","Canonical high mobility group"
"1120",8.57346746480582e-262,0.678804727453074,1,0.948,1.97841335217859e-257,"9","RPL29","ribosomal protein L29","","","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29E family of ribosomal proteins. The protein is also a peripheral membrane protein expressed on the cell surface that directly binds heparin. Although this gene was previously reported to map to 3q29-qter, it is believed that it is located at 3p21.3-p21.2. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Formation of a pool of free 40S subunits; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","L ribosomal proteins"
"1121",3.43760230142387e-260,0.856168382386183,1,0.942,7.93261107076571e-256,"9","RPL3","ribosomal protein L3","","","Ribosomes, the complexes that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L3P family of ribosomal proteins and it is located in the cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has been suggested that the protein contributes to tat-mediated transactivation. This gene is co-transcribed with several small nucleolar RNA genes, which are located in several of this gene's introns. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Formation of a pool of free 40S subunits; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","L ribosomal proteins"
"1122",6.78358429408515e-259,0.67391288222022,1,0.958,1.56537991170309e-254,"9","RPS27A","ribosomal protein S27a","","b cell, cdc, conventional dendritic cell, hematopoietic stem cell, progenitor","Ubiquitin, a highly conserved protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome, is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein S27a at the C terminus. When expressed in yeast, the protein is post-translationally processed, generating free ubiquitin monomer and ribosomal protein S27a. Ribosomal protein S27a is a component of the 40S subunit of the ribosome and belongs to the S27AE family of ribosomal proteins. It contains C4-type zinc finger domains and is located in the cytoplasm. Pseudogenes derived from this gene are present in the genome. As with ribosomal protein S27a, ribosomal protein L40 is also synthesized as a fusion protein with ubiquitin; similarly, ribosomal protein S30 is synthesized as a fusion protein with the ubiquitin-like protein fubi. Multiple alternatively spliced transcript variants that encode the same proteins have been identified.[provided by RefSeq, Sep 2008]","Translesion synthesis by REV1; Recognition of DNA damage by PCNA-containing replication complex; Translesion Synthesis by POLH; Activation of NF-kappaB in B cells; ISG15 antiviral mechanism; Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha; Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants; ER-Phagosome pathway; Downregulation of ERBB4 signaling; Spry regulation of FGF signaling; Downregulation of ERBB2:ERBB3 signaling; L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; Budding and maturation of HIV virion; NOD1/2 Signaling Pathway; TICAM1, RIP1-mediated IKK complex recruitment ; DDX58/IFIH1-mediated induction of interferon-alpha/beta; APC/C:Cdc20 mediated degradation of Cyclin B; Autodegradation of Cdh1 by Cdh1:APC/C; SCF-beta-TrCP mediated degradation of Emi1; APC/C:Cdc20 mediated degradation of Securin; APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1; Cdc20:Phospho-APC/C mediated degradation of Cyclin A; Membrane binding and targetting of GAG proteins; Assembly Of The HIV Virion; APC-Cdc20 mediated degradation of Nek2A; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Vpu mediated degradation of CD4; Vif-mediated degradation of APOBEC3G; EGFR downregulation; SCF(Skp2)-mediated degradation of p27/p21; Viral mRNA Translation; Degradation of beta-catenin by the destruction complex; TCF dependent signaling in response to WNT; Downstream TCR signaling; NRIF signals cell death from the nucleus; p75NTR recruits signalling complexes; NF-kB is activated and signals survival; Regulation of activated PAK-2p34 by proteasome mediated degradation; NOTCH1 Intracellular Domain Regulates Transcription; Activated NOTCH1 Transmits Signal to the Nucleus; Activated NOTCH1 Transmits Signal to the Nucleus; Downregulation of TGF-beta receptor signaling; Downregulation of TGF-beta receptor signaling; TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition); Downregulation of SMAD2/3:SMAD4 transcriptional activity; Downregulation of SMAD2/3:SMAD4 transcriptional activity; SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription; SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription; Selenocysteine synthesis; Separation of Sister Chromatids; Oxidative Stress Induced Senescence; Senescence-Associated Secretory Phenotype (SASP); Oncogene Induced Senescence; Regulation of PLK1 Activity at G2/M Transition; Constitutive Signaling by NOTCH1 PEST Domain Mutants; Stimuli-sensing channels; Constitutive Signaling by NOTCH1 HD Domain Mutants; FCERI mediated NF-kB activation; Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants; NOTCH2 Activation and Transmission of Signal to the Nucleus; Regulation of innate immune responses to cytosolic DNA; Glycogen synthesis; Autodegradation of the E3 ubiquitin ligase COP1; Deactivation of the beta-catenin transactivating complex; Myoclonic epilepsy of Lafora; ABC-family proteins mediated transport; Circadian Clock; TAK1 activates NFkB by phosphorylation and activation of IKKs complex; activated TAK1 mediates p38 MAPK activation; JNK (c-Jun kinases) phosphorylation and  activation mediated by activated human TAK1; AUF1 (hnRNP D0) binds and destabilizes mRNA; Asymmetric localization of PCP proteins; Degradation of AXIN; Degradation of DVL; Regulation of FZD by ubiquitination; Pink/Parkin Mediated Mitophagy; N-glycan trimming in the ER and Calnexin/Calreticulin cycle; Regulation of TNFR1 signaling; TNFR1-induced NFkappaB signaling pathway; Hedgehog ligand biogenesis; Hh mutants that don't undergo autocatalytic processing are degraded by ERAD; Dectin-1 mediated noncanonical NF-kB signaling; CLEC7A (Dectin-1) signaling; Degradation of GLI1 by the proteasome; Degradation of GLI2 by the proteasome; GLI3 is processed to GLI3R by the proteasome; Hedgehog 'on' state; Hedgehog 'on' state; Negative regulation of FGFR1 signaling; Negative regulation of FGFR2 signaling; Negative regulation of FGFR3 signaling; Negative regulation of FGFR4 signaling; Translesion synthesis by POLK; Translesion synthesis by POLI; Termination of translesion DNA synthesis; Regulation of RAS by GAPs; TNFR2 non-canonical NF-kB pathway; Negative regulation of MAPK pathway; Regulation of necroptotic cell death; NIK-->noncanonical NF-kB signaling; Defective CFTR causes cystic fibrosis; MAP3K8 (TPL2)-dependent MAPK1/3 activation; HDR through Homologous Recombination (HRR); MAPK6/MAPK4 signaling; UCH proteinases; UCH proteinases; Josephin domain DUBs; Ub-specific processing proteases; Ovarian tumor domain proteases; Metalloprotease DUBs; Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks; Processing of DNA double-strand break ends; DNA Damage Recognition in GG-NER; Formation of Incision Complex in GG-NER; Gap-filling DNA repair synthesis and ligation in GG-NER; Dual Incision in GG-NER; Formation of TC-NER Pre-Incision Complex; Transcription-Coupled Nucleotide Excision Repair (TC-NER); Dual incision in TC-NER; Gap-filling DNA repair synthesis and ligation in TC-NER; Fanconi Anemia Pathway; Major pathway of rRNA processing in the nucleolus and cytosol; Regulation of TP53 Activity through Phosphorylation; Regulation of TP53 Degradation; Regulation of TP53 Activity through Methylation; Negative regulation of MET activity; CDT1 association with the CDC6:ORC:origin complex; Orc1 removal from chromatin; CDK-mediated phosphorylation and removal of Cdc6; Ubiquitin-dependent degradation of Cyclin D1; Cyclin D associated events in G1; G2/M Checkpoints; Stabilization of p53; Ubiquitin Mediated Degradation of Phosphorylated Cdc25A; Translation initiation complex formation; Formation of a pool of free 40S subunits; Formation of the ternary complex, and subsequently, the 43S complex; Ribosomal scanning and start codon recognition; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1; The role of GTSE1 in G2/M progression after G2 checkpoint; FBXL7 down-regulates AURKA during mitotic entry and in early mitosis; Cargo recognition for clathrin-mediated endocytosis; Clathrin-mediated endocytosis; Downregulation of ERBB2 signaling; Synthesis of active ubiquitin: roles of E1 and E2 enzymes; Synthesis of active ubiquitin: roles of E1 and E2 enzymes; E3 ubiquitin ligases ubiquitinate target proteins; InlB-mediated entry of Listeria monocytogenes into host cell; InlA-mediated entry of Listeria monocytogenes into host cells; RUNX1 regulates transcription of genes involved in differentiation of HSCs; Regulation of RUNX2 expression and activity; Regulation of RUNX2 expression and activity; Regulation of RUNX3 expression and activity; Regulation of PTEN localization; Regulation of PTEN stability and activity; Neddylation; ER Quality Control Compartment (ERQC); Regulation of expression of SLITs and ROBOs; Regulation of expression of SLITs and ROBOs; NOTCH3 Activation and Transmission of Signal to the Nucleus; NOTCH3 Activation and Transmission of Signal to the Nucleus; TICAM1-dependent activation of IRF3/IRF7; TICAM1,TRAF6-dependent induction of TAK1 complex; Interleukin-1 signaling; Peroxisomal protein import; Peroxisomal protein import; Regulation of signaling by CBL; Endosomal Sorting Complex Required For Transport (ESCRT); Iron uptake and transport; Negative regulators of DDX58/IFIH1 signaling; Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon; IRAK1 recruits IKK complex; IKK complex recruitment mediated by RIP1; IRAK2 mediated activation of TAK1 complex; TRAF6-mediated induction of TAK1 complex within TLR4 complex; Negative regulation of NOTCH4 signaling; TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling; IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation; IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC); Amyloid fiber formation; Antigen processing: Ubiquitination & Proteasome degradation","S ribosomal proteins"
"1123",8.40282073982826e-253,0.992550634327245,1,0.901,1.93903491392277e-248,"9","HNRNPA1","heterogeneous nuclear ribonucleoprotein A1","","","This gene encodes a member of a family of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs), which are RNA-binding proteins that associate with pre-mRNAs in the nucleus and influence pre-mRNA processing, as well as other aspects of mRNA metabolism and transport. The protein encoded by this gene is one of the most abundant core proteins of hnRNP complexes and plays a key role in the regulation of alternative splicing. Mutations in this gene have been observed in individuals with amyotrophic lateral sclerosis 20. Multiple alternatively spliced transcript variants have been found. There are numerous pseudogenes of this gene distributed throughout the genome. [provided by RefSeq, Feb 2016]","FGFR2 alternative splicing; mRNA Splicing - Major Pathway; Processing of Capped Intron-Containing Pre-mRNA","RNA binding motif containing|Spliceosomal A complex"
"1124",1.15024158798841e-251,0.680656818492552,1,0.943,2.65429748844205e-247,"9","RPL14","ribosomal protein L14","","","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14E family of ribosomal proteins. It contains a basic region-leucine zipper (bZIP)-like domain. The protein is located in the cytoplasm. This gene contains a trinucleotide (GCT) repeat tract whose length is highly polymorphic; these triplet repeats result in a stretch of alanine residues in the encoded protein. Transcript variants utilizing alternative polyA signals and alternative 5'-terminal exons exist but all encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Formation of a pool of free 40S subunits; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","L ribosomal proteins"
"1125",1.01819724675682e-248,0.702701652587281,1,0.939,2.34959196661603e-244,"9","RPL7A","ribosomal protein L7a","","","Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L7AE family of ribosomal proteins. It can interact with a subclass of nuclear hormone receptors, including thyroid hormone receptor, and inhibit their ability to transactivate by preventing their binding to their DNA response elements. This gene is included in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity. It is co-transcribed with the U24, U36a, U36b, and U36c small nucleolar RNA genes, which are located in its second, fifth, fourth, and sixth introns, respectively. This gene rearranges with the trk proto-oncogene to form the chimeric oncogene trk-2h, which encodes an oncoprotein consisting of the N terminus of ribosomal protein L7a fused to the receptor tyrosine kinase domain of trk. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Formation of a pool of free 40S subunits; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","L ribosomal proteins"
"1126",3.15513299537729e-247,0.788937803813603,1,0.921,7.28078490013263e-243,"9","RPL10A","ribosomal protein L10a","","progenitor","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L1P family of ribosomal proteins. It is located in the cytoplasm. The expression of this gene is downregulated in the thymus by cyclosporin-A (CsA), an immunosuppressive drug. Studies in mice have shown that the expression of the ribosomal protein L10a gene is downregulated in neural precursor cells during development. This gene previously was referred to as NEDD6 (neural precursor cell expressed, developmentally downregulated 6), but it has been renamed RPL10A (ribosomal protein 10a). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Formation of a pool of free 40S subunits; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","L ribosomal proteins"
"1127",7.79717688624088e-247,1.0046254240006,0.997,0.877,1.79927653826895e-242,"9","NPM1","nucleophosmin 1","16, 9","myeloid","The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribosomal proteins and core histones from the nucleus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified. [provided by RefSeq, Aug 2017]","Nuclear import of Rev protein; Nuclear import of Rev protein; SUMOylation of transcription cofactors; Deposition of new CENPA-containing nucleosomes at the centromere; TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain; TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation",""
"1128",3.5594385545859e-245,1.12669024307249,0.516,0.086,8.21376040856242e-241,"9","LTB","lymphotoxin beta","19, 9","lymphoid","Lymphotoxin beta is a type II membrane protein of the TNF family. It anchors lymphotoxin-alpha to the cell surface through heterotrimer formation. The predominant form on the lymphocyte surface is the lymphotoxin-alpha 1/beta 2 complex (e.g. 1 molecule alpha/2 molecules beta) and this complex is the primary ligand for the lymphotoxin-beta receptor. The minor complex is lymphotoxin-alpha 2/beta 1. LTB is an inducer of the inflammatory response system and involved in normal development of lymphoid tissue. Lymphotoxin-beta isoform b is unable to complex with lymphotoxin-alpha suggesting a function for lymphotoxin-beta which is independent of lympyhotoxin-alpha. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","TNFR2 non-canonical NF-kB pathway; TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway; TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway","Tumor necrosis factor superfamily"
"1129",1.98569711816917e-242,0.73607604230424,1,0.957,4.58219466988718e-238,"9","RPS3A","ribosomal protein S3A","","","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S3AE family of ribosomal proteins. It is located in the cytoplasm. Disruption of the gene encoding rat ribosomal protein S3a, also named v-fos transformation effector protein, in v-fos-transformed rat cells results in reversion of the transformed phenotype. This gene is co-transcribed with the U73A and U73B small nucleolar RNA genes, which are located in its fourth and third introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Translation initiation complex formation; Formation of a pool of free 40S subunits; Formation of the ternary complex, and subsequently, the 43S complex; Ribosomal scanning and start codon recognition; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","S ribosomal proteins"
"1130",1.24235701758248e-240,0.738535781138011,1,0.928,2.86686305377333e-236,"9","RPL4","ribosomal protein L4","","","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L4E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Formation of a pool of free 40S subunits; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","L ribosomal proteins"
"1131",1.53385019817832e-235,0.697659048582135,1,0.956,3.5395127173163e-231,"9","RPS18","ribosomal protein S18","","","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S13P family of ribosomal proteins. It is located in the cytoplasm. The gene product of the E. coli ortholog (ribosomal protein S13) is involved in the binding of fMet-tRNA, and thus, in the initiation of translation. This gene is an ortholog of mouse Ke3. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Translation initiation complex formation; Formation of a pool of free 40S subunits; Formation of the ternary complex, and subsequently, the 43S complex; Ribosomal scanning and start codon recognition; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","S ribosomal proteins"
"1132",8.88404661189639e-224,0.948753637559074,0.946,0.611,2.05008259616121e-219,"9","C1QBP","complement C1q binding protein","","","The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008]","Intrinsic Pathway of Fibrin Clot Formation",""
"1133",4.55597901395657e-212,0.731433121381593,0.57,0.124,1.05133771726062e-207,"9","ITM2A","integral membrane protein 2A","19, 9","","This gene encodes a type II membrane protein that belongs to the ITM2 family. Studies in mouse suggest that it may be involved in osteo- and chondrogenic differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]","","BRICHOS domain containing"
"1134",7.20434236178059e-207,0.747920314782752,0.818,0.266,1.66247404340449e-202,"9","CD52","CD52 molecule","15, 19, 9","","Not available","Post-translational modification: synthesis of GPI-anchored proteins","CD molecules"
"1135",5.60088945829072e-204,0.793821073518323,0.99,0.797,1.29246125139517e-199,"9","LDHB","lactate dehydrogenase B","","","This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis process. Alternatively spliced transcript variants have been found for this gene. Recent studies have shown that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Mutations in this gene are associated with lactate dehydrogenase B deficiency. Pseudogenes have been identified on chromosomes X, 5 and 13. [provided by RefSeq, Feb 2016]","Pyruvate metabolism",""
"1136",4.35562453825949e-201,0.730996180330626,1,0.928,1.00510391844876e-196,"9","RPL5","ribosomal protein L5","","","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18P family of ribosomal proteins and component of the 60S subunit. The encoded protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The encoded protein may also function to inhibit tumorigenesis through the activation of downstream tumor suppressors and the downregulation of oncoprotein expression. Mutations in this gene have been identified in patients with Diamond-Blackfan Anemia (DBA). This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Mar 2017]","L13a-mediated translational silencing of Ceruloplasmin expression; Peptide chain elongation; SRP-dependent cotranslational protein targeting to membrane; SRP-dependent cotranslational protein targeting to membrane; Viral mRNA Translation; Selenocysteine synthesis; Major pathway of rRNA processing in the nucleolus and cytosol; Formation of a pool of free 40S subunits; GTP hydrolysis and joining of the 60S ribosomal subunit; Eukaryotic Translation Termination; Regulation of expression of SLITs and ROBOs; Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC); Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)","Protein phosphatase 1 regulatory subunits|L ribosomal proteins"
"1137",5.72991066228458e-197,0.702715449615386,0.995,0.867,1.32223418442879e-192,"9","HMGN1","high mobility group nucleosome binding domain 1","","","The protein encoded by this gene binds nucleosomal DNA and is associated with transcriptionally active chromatin. Along with a similar protein, HMG17, the encoded protein may help maintain an open chromatin configuration around transcribable genes. [provided by RefSeq, Aug 2011]","Formation of TC-NER Pre-Incision Complex; Transcription-Coupled Nucleotide Excision Repair (TC-NER); Dual incision in TC-NER; Gap-filling DNA repair synthesis and ligation in TC-NER","Canonical high mobility group"
"1138",5.86556183971525e-197,0.771087332891722,0.988,0.817,1.35353705013269e-192,"9","SLC25A5","solute carrier family 25 member 5","","","This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Suppressed expression of this gene has been shown to induce apoptosis and inhibit tumor growth. The human genome contains several non-transcribed pseudogenes of this gene.[provided by RefSeq, Jun 2013]","Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization; Regulation of insulin secretion","Solute carriers"
"1139",3.46887146592872e-195,0.734441886824878,0.993,0.796,8.00476779477713e-191,"9","NAP1L1","nucleosome assembly protein 1 like 1","","","This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015]","",""
"1140",8.07808446806597e-187,0.728757708808214,0.958,0.653,1.8640987718509e-182,"9","H2AFY","H2A histone family member Y","","","Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]","","Histones"
"1141",1.12548760578439e-158,0.684133791146588,0.984,0.847,2.59717519910806e-154,"9","RAN","RAN, member RAS oncogene family","","","RAN (ras-related nuclear protein) is a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The RAN protein is also involved in control of DNA synthesis and cell cycle progression. Nuclear localization of RAN requires the presence of regulator of chromosome condensation 1 (RCC1). Mutations in RAN disrupt DNA synthesis. Because of its many functions, it is likely that RAN interacts with several other proteins. RAN regulates formation and organization of the microtubule network independently of its role in the nucleus-cytosol exchange of macromolecules. RAN could be a key signaling molecule regulating microtubule polymerization during mitosis. RCC1 generates a high local concentration of RAN-GTP around chromatin which, in turn, induces the local nucleation of microtubules.  RAN is an androgen receptor (AR) coactivator that binds differentially with different lengths of polyglutamine within the androgen receptor. Polyglutamine repeat expansion in the AR is linked to Kennedy's disease (X-linked spinal and bulbar muscular atrophy). RAN coactivation of the AR diminishes with polyglutamine expansion within the AR, and this weak coactivation may lead to partial androgen insensitivity during the development of Kennedy's disease. [provided by RefSeq, Jul 2008]","Rev-mediated nuclear export of HIV RNA; Regulation of cholesterol biosynthesis by SREBP (SREBF); NEP/NS2 Interacts with the Cellular Export Machinery; Nuclear import of Rev protein; MicroRNA (miRNA) biogenesis; Transcriptional regulation by small RNAs; tRNA processing in the nucleus","RAN family GTPases"
"1142",7.29338294852873e-158,0.813632472542699,0.945,0.733,1.68302104920249e-153,"9","RANBP1","RAN binding protein 1","","","This gene encodes a protein that forms a complex with Ras-related nuclear protein (Ran) and metabolizes guanoside triphosphate (GTP). This complex participates in the regulation of the cell cycle by controlling transport of proteins and nucleic acids into the nucleus. There are multiple pseudogenes for this gene on chromosomes 9, 12, 17, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]","Rev-mediated nuclear export of HIV RNA",""
"1143",4.27282872927277e-140,0.969423507931392,0.901,0.511,9.85997957566986e-136,"9","CD74","CD74 molecule","15, 2, 9","macrophage, progenitor","The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]","Cell surface interactions at the vascular wall; MHC class II antigen presentation","CD molecules"
"1144",8.57014864213316e-137,0.753328927384451,0.899,0.492,1.97764750065865e-132,"9","KIAA0101","KIAA0101","10, 7, 9","","KIAA0101","KIAA0101","KIAA0101"
"1145",6.93325095903294e-133,0.717536186384973,0.929,0.608,1.59991699130644e-128,"9","DUT","deoxyuridine triphosphatase","","progenitor","This gene encodes an essential enzyme of nucleotide metabolism. The encoded protein forms a ubiquitous, homotetrameric enzyme that hydrolyzes dUTP to dUMP and pyrophosphate. This reaction serves two cellular purposes: providing a precursor (dUMP) for the synthesis of thymine nucleotides needed for DNA replication, and limiting intracellular pools of dUTP. Elevated levels of dUTP lead to increased incorporation of uracil into DNA, which induces extensive excision repair mediated by uracil glycosylase. This repair process, resulting in the removal and reincorporation of dUTP, is self-defeating and leads to DNA fragmentation and cell death. Alternative splicing of this gene leads to different isoforms that localize to either the mitochondrion or nucleus. A related pseudogene is located on chromosome 19. [provided by RefSeq, Jul 2008]","Interconversion of nucleotide di- and triphosphates",""
"1146",2.30878253149682e-117,0.756572117772327,0.981,0.845,5.32774656968206e-113,"9","H2AFZ","H2A histone family member Z","10, 7, 9","hematopoietic stem cell, megakaryocyte","Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. [provided by RefSeq, Jul 2008]","Meiotic synapsis; Packaging Of Telomere Ends; Pre-NOTCH Transcription and Translation; Formation of the beta-catenin:TCF transactivating complex; Formation of the beta-catenin:TCF transactivating complex; PRC2 methylates histones and DNA; Condensation of Prophase Chromosomes; Oxidative Stress Induced Senescence; Senescence-Associated Secretory Phenotype (SASP); DNA Damage/Telomere Stress Induced Senescence; RMTs methylate histone arginines; SIRT1 negatively regulates rRNA expression; ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression; NoRC negatively regulates rRNA expression; NoRC negatively regulates rRNA expression; B-WICH complex positively regulates rRNA expression; DNA methylation; Transcriptional regulation by small RNAs; Activation of anterior HOX genes in hindbrain development during early embryogenesis; Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3; Deposition of new CENPA-containing nucleosomes at the centromere; RNA Polymerase I Promoter Opening; RNA Polymerase I Chain Elongation; RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function; RUNX1 regulates transcription of genes involved in differentiation of HSCs; Estrogen-dependent gene expression; Meiotic recombination; Amyloid fiber formation","Histones"
"1147",1.00877477940245e-110,1.61941370453213,0.281,0.055,2.32784868094909e-106,"9","MPO","myeloperoxidase","","myeloid, neutrophil granulocyte, progenitor","Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of neutrophils. [provided by RefSeq, Nov 2014]","Neutrophil degranulation",""
"1148",2.2942088638571e-90,0.691152528072626,0.941,0.719,5.29411637423665e-86,"9","HMGB2","high mobility group box 2","10, 3, 9","","This gene encodes a member of the non-histone chromosomal high mobility group protein family. The proteins of this family are chromatin-associated and ubiquitously distributed in the nucleus of higher eukaryotic cells. In vitro studies have demonstrated that this protein is able to efficiently bend DNA and form DNA circles.  These studies suggest a role in facilitating cooperative interactions between cis-acting proteins by promoting DNA flexibility. This protein was also reported to be involved in the final ligation step in DNA end-joining processes of DNA double-strand breaks repair and V(D)J recombination. [provided by RefSeq, Jul 2008]","Activation of DNA fragmentation factor","Canonical high mobility group|SET complex"
"1149",8.68821998144706e-80,0.718541712995591,0.288,0.071,2.00489364291872e-75,"9","IFI27","interferon alpha inducible protein 27","","","Not available","Interferon alpha/beta signaling",""
"1150",2.7230351254068e-65,1.64467036040388,0.579,0.246,6.28367585538873e-61,"9","LYZ","lysozyme","15, 9","neutrophil granulocyte","This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the antimicrobial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. The protein has antibacterial activity against a number of bacterial species. Missense mutations in this gene have been identified in heritable renal amyloidosis. [provided by RefSeq, Oct 2014]","Neutrophil degranulation; Antimicrobial peptides; Amyloid fiber formation","Lysozymes, c-type"
