psui3905/ncbi_genes_summary huggingface dataset:
EXOSC5, Official Symbol EXOSC5provided by HGNC Official Full Name exosome component 5provided by HGNC Primary source HGNC:HGNC:24662 See related Ensembl:ENSG00000077348 MIM:606492; AllianceGenome:HGNC:24662 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p12B; CABAC; RRP46; RRP41B; Rrp46p; hRrp46p Summary Predicted to enable RNA binding activity. Involved in DNA deamination and exonucleolytic catabolism of deadenylated mRNA. Acts upstream of or within defense response to virus. Located in nucleolus; nucleoplasm; and transcriptionally active chromatin. Part of exosome (RNase complex). [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 8.8), ovary (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
EXOSC6, Official Symbol EXOSC6provided by HGNC Official Full Name exosome component 6provided by HGNC Primary source HGNC:HGNC:19055 See related Ensembl:ENSG00000223496 MIM:606490; AllianceGenome:HGNC:19055 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p11; EAP4; MTR3; Mtr3p; hMtr3p Summary This gene product constitutes one of the subunits of the multisubunit particle called exosome, which mediates mRNA degradation. The composition of human exosome is similar to its yeast counterpart. This protein is homologous to the yeast Mtr3 protein. Its exact function is not known, however, it has been shown using a cell-free RNA decay system that the exosome is required for rapid degradation of unstable mRNAs containing AU-rich elements (AREs), but not for poly(A) shortening. The exosome does not recognize ARE-containing mRNAs on its own, but requires ARE-binding proteins that could interact with the exosome and recruit it to unstable mRNAs, thereby promoting their rapid degradation. [provided by RefSeq, Jul 2008] Orthologs mouse all
EXOSC7, Official Symbol EXOSC7provided by HGNC Official Full Name exosome component 7provided by HGNC Primary source HGNC:HGNC:28112 See related Ensembl:ENSG00000075914 MIM:606488; AllianceGenome:HGNC:28112 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p8; EAP1; RRP42; Rrp42p; hRrp42p Summary Predicted to enable 3'-5'-exoribonuclease activity and RNA binding activity. Predicted to be involved in RNA metabolic process. Part of exosome (RNase complex). [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 11.2), skin (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
EXOSC8, Official Symbol EXOSC8provided by HGNC Official Full Name exosome component 8provided by HGNC Primary source HGNC:HGNC:17035 See related Ensembl:ENSG00000120699 MIM:606019; AllianceGenome:HGNC:17035 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p9; CIP3; EAP2; OIP2; PCH1C; RRP43; Rrp43p; bA421P11.3 Summary This gene encodes a 3'-5' exoribonuclease that specifically interacts with mRNAs containing AU-rich elements. The encoded protein is part of the exosome complex that is important for the degradation of numerous RNA species. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in testis (RPKM 16.7), lymph node (RPKM 12.4) and 25 other tissues See more Orthologs mouse all
EXOSC9, Official Symbol EXOSC9provided by HGNC Official Full Name exosome component 9provided by HGNC Primary source HGNC:HGNC:9137 See related Ensembl:ENSG00000123737 MIM:606180; AllianceGenome:HGNC:9137 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p5; p6; PCH1D; RRP45; PMSCL1; Rrp45p; PM/Scl-75 Summary This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] Expression Broad expression in testis (RPKM 24.9), bone marrow (RPKM 19.1) and 24 other tissues See more Orthologs mouse all
EXPH5, Official Symbol EXPH5provided by HGNC Official Full Name exophilin 5provided by HGNC Primary source HGNC:HGNC:30578 See related Ensembl:ENSG00000110723 MIM:612878; AllianceGenome:HGNC:30578 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EBS4; SLAC2B; SLAC2-B Summary The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Expression Biased expression in skin (RPKM 9.2), esophagus (RPKM 2.8) and 9 other tissues See more Orthologs mouse all
EXT1, Official Symbol EXT1provided by HGNC Official Full Name exostosin glycosyltransferase 1provided by HGNC Primary source HGNC:HGNC:3512 See related Ensembl:ENSG00000182197 MIM:608177; AllianceGenome:HGNC:3512 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EXT; LGS; TTV; LGCR; TRPS2 Summary This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in duodenum (RPKM 18.7), small intestine (RPKM 16.2) and 25 other tissues See more Orthologs mouse all
EXT2, Official Symbol EXT2provided by HGNC Official Full Name exostosin glycosyltransferase 2provided by HGNC Primary source HGNC:HGNC:3513 See related Ensembl:ENSG00000151348 MIM:608210; AllianceGenome:HGNC:3513 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SOTV; SSMS Summary This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 29.3), endometrium (RPKM 20.5) and 25 other tissues See more Orthologs mouse all
EXTL1, Official Symbol EXTL1provided by HGNC Official Full Name exostosin like glycosyltransferase 1provided by HGNC Primary source HGNC:HGNC:3515 See related Ensembl:ENSG00000158008 MIM:601738; AllianceGenome:HGNC:3515 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EXTL Summary This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 3.8), heart (RPKM 1.2) and 9 other tissues See more Orthologs mouse all
EXTL2, Official Symbol EXTL2provided by HGNC Official Full Name exostosin like glycosyltransferase 2provided by HGNC Primary source HGNC:HGNC:3516 See related Ensembl:ENSG00000162694 MIM:602411; AllianceGenome:HGNC:3516 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EXTR2 Summary Enables alpha-1,4-N-acetylgalactosaminyltransferase activity and glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Involved in N-acetylglucosamine metabolic process and UDP-N-acetylgalactosamine metabolic process. Located in cytosol; endoplasmic reticulum; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 10.0), placenta (RPKM 9.1) and 25 other tissues See more Orthologs mouse all
EXTL2P1, Official Symbol EXTL2P1provided by HGNC Official Full Name exostosin like glycosyltransferase 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:3517 See related AllianceGenome:HGNC:3517 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EXTL2P
EXTL3, Official Symbol EXTL3provided by HGNC Official Full Name exostosin like glycosyltransferase 3provided by HGNC Primary source HGNC:HGNC:3518 See related Ensembl:ENSG00000012232 MIM:605744; AllianceGenome:HGNC:3518 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RPR; BOTV; REGR; EXTR1; ISDNA; EXTL1L Summary This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in heart (RPKM 14.3), brain (RPKM 13.9) and 25 other tissues See more Orthologs mouse all
EXTL3-AS1, Official Symbol EXTL3-AS1provided by HGNC Official Full Name EXTL3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27985 See related Ensembl:ENSG00000246339 AllianceGenome:HGNC:27985 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C8orf50 Expression Low expression observed in reference dataset See more
EYA1, Official Symbol EYA1provided by HGNC Official Full Name EYA transcriptional coactivator and phosphatase 1provided by HGNC Primary source HGNC:HGNC:3519 See related Ensembl:ENSG00000104313 MIM:601653; AllianceGenome:HGNC:3519 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BOP; BOR; BOS1; OFC1 Summary This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013] Expression Biased expression in prostate (RPKM 2.8), brain (RPKM 1.5) and 7 other tissues See more Orthologs mouse all
EYA2, Official Symbol EYA2provided by HGNC Official Full Name EYA transcriptional coactivator and phosphatase 2provided by HGNC Primary source HGNC:HGNC:3520 See related Ensembl:ENSG00000064655 MIM:601654; AllianceGenome:HGNC:3520 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EAB1 Summary This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009] Expression Broad expression in endometrium (RPKM 9.8), prostate (RPKM 9.3) and 17 other tissues See more Orthologs mouse all
EYA3, Official Symbol EYA3provided by HGNC Official Full Name EYA transcriptional coactivator and phosphatase 3provided by HGNC Primary source HGNC:HGNC:3521 See related Ensembl:ENSG00000158161 MIM:601655; AllianceGenome:HGNC:3521 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. It can act as a mediator of chemoresistance and cell survival in Ewing sarcoma cells, where this gene is up-regulated via a micro-RNA that binds to the 3' UTR of the transcript. A similar protein in mice acts as a transcriptional activator. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013] Expression Ubiquitous expression in testis (RPKM 6.3), kidney (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
EYA4, Official Symbol EYA4provided by HGNC Official Full Name EYA transcriptional coactivator and phosphatase 4provided by HGNC Primary source HGNC:HGNC:3522 See related Ensembl:ENSG00000112319 MIM:603550; AllianceGenome:HGNC:3522 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CMD1J; DFNA10 Summary This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014] Expression Broad expression in prostate (RPKM 1.8), kidney (RPKM 1.5) and 15 other tissues See more Orthologs mouse all
EYS, Official Symbol EYSprovided by HGNC Official Full Name eyes shut homologprovided by HGNC Primary source HGNC:HGNC:21555 See related Ensembl:ENSG00000188107 MIM:612424; AllianceGenome:HGNC:21555 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RP25; SPAM; EGFL10; EGFL11; C6orf178; C6orf179; C6orf180; bA74E24.1; dJ22I17.2; bA166P24.2; bA307F22.3; dJ1018A4.2; dJ303F19.1 Summary The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] Expression Low expression observed in reference dataset See more Orthologs all
EZH1, Official Symbol EZH1provided by HGNC Official Full Name enhancer of zeste 1 polycomb repressive complex 2 subunitprovided by HGNC Primary source HGNC:HGNC:3526 See related Ensembl:ENSG00000108799 MIM:601674; AllianceGenome:HGNC:3526 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KMT6B Summary EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cell pluripotency and plasticity (Shen et al., 2008 [PubMed 19026780]).[supplied by OMIM, Mar 2009] Expression Ubiquitous expression in ovary (RPKM 23.1), fat (RPKM 20.0) and 25 other tissues See more Orthologs mouse all
EZH2, Official Symbol EZH2provided by HGNC Official Full Name enhancer of zeste 2 polycomb repressive complex 2 subunitprovided by HGNC Primary source HGNC:HGNC:3527 See related Ensembl:ENSG00000106462 MIM:601573; AllianceGenome:HGNC:3527 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as WVS; ENX1; KMT6; WVS2; ENX-1; EZH2b; KMT6A Summary This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011] Expression Broad expression in bone marrow (RPKM 9.3), testis (RPKM 8.6) and 14 other tissues See more Orthologs mouse all
EZH2P1, Official Symbol EZH2P1provided by HGNC Official Full Name enhancer of zeste 2 polycomb repressive complex 2 subunit pseudogene 1provided by HGNC Primary source HGNC:HGNC:39918 See related AllianceGenome:HGNC:39918 Gene type pseudo Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
EZHIP, Official Symbol EZHIPprovided by HGNC Official Full Name EZH inhibitory proteinprovided by HGNC Primary source HGNC:HGNC:33738 See related Ensembl:ENSG00000187690 MIM:301036; AllianceGenome:HGNC:33738 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KIP75; CXorf67; CATACOMB Summary Involved in negative regulation of histone H3-K27 methylation. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
EZR, Official Symbol EZRprovided by HGNC Official Full Name ezrinprovided by HGNC Primary source HGNC:HGNC:12691 See related Ensembl:ENSG00000092820 MIM:123900; AllianceGenome:HGNC:12691 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CVL; CVIL; VIL2; HEL-S-105 Summary 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] Expression Ubiquitous expression in placenta (RPKM 124.6), small intestine (RPKM 120.8) and 25 other tissues See more Orthologs mouse all
EZR-AS1, Official Symbol EZR-AS1provided by HGNC Official Full Name EZR antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40609 See related Ensembl:ENSG00000233893 AllianceGenome:HGNC:40609 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in stomach (RPKM 11.3), kidney (RPKM 10.3) and 25 other tissues See more
F10, Official Symbol F10provided by HGNC Official Full Name coagulation factor Xprovided by HGNC Primary source HGNC:HGNC:3528 See related Ensembl:ENSG00000126218 MIM:613872; AllianceGenome:HGNC:3528 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FX; FXA Summary This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-chain form by the excision of the tripeptide RKR. Two chains of the factor are held together by 1 or more disulfide bonds; the light chain contains 2 EGF-like domains, while the heavy chain contains the catalytic domain which is structurally homologous to those of the other hemostatic serine proteases. The mature factor is activated by the cleavage of the activation peptide by factor IXa (in the intrisic pathway), or by factor VIIa (in the extrinsic pathway). The activated factor then converts prothrombin to thrombin in the presence of factor Va, Ca+2, and phospholipid during blood clotting. Mutations of this gene result in factor X deficiency, a hemorrhagic condition of variable severity. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015] Expression Broad expression in liver (RPKM 44.8), ovary (RPKM 13.4) and 16 other tissues See more Orthologs mouse all
F10-AS1, Official Symbol F10-AS1provided by HGNC Official Full Name F10 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40225 See related AllianceGenome:HGNC:40225 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
F11, Official Symbol F11provided by HGNC Official Full Name coagulation factor XIprovided by HGNC Primary source HGNC:HGNC:3529 See related Ensembl:ENSG00000088926 MIM:264900; AllianceGenome:HGNC:3529 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FXI; PTA Summary This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. During activation of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or XII) in each of the two chains, resulting in activated factor XIa, a serine protease composed of two heavy and two light chains held together by disulfide bonds. This activated plasma factor XI triggers the middle phase of the intrisic pathway of blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality. [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 26.4), kidney (RPKM 6.8) and 5 other tissues See more Orthologs mouse all
F11-AS1, Official Symbol F11-AS1provided by HGNC Official Full Name F11 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27725 See related Ensembl:ENSG00000251165 AllianceGenome:HGNC:27725 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in liver (RPKM 14.0), testis (RPKM 8.5) and 5 other tissues See more
F11R, Official Symbol F11Rprovided by HGNC Official Full Name F11 receptorprovided by HGNC Primary source HGNC:HGNC:14685 See related Ensembl:ENSG00000158769 MIM:605721; AllianceGenome:HGNC:14685 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as JAM; KAT; JAM1; JAMA; JCAM; CD321; PAM-1 Summary Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Multiple 5' alternatively spliced variants, encoding the same protein, have been identified but their biological validity has not been established. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lung (RPKM 46.3), small intestine (RPKM 31.8) and 24 other tissues See more Orthologs mouse all
F12, Official Symbol F12provided by HGNC Official Full Name coagulation factor XIIprovided by HGNC Primary source HGNC:HGNC:3530 See related Ensembl:ENSG00000131187 MIM:610619; AllianceGenome:HGNC:3530 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HAF; HAE3; HAEX Summary This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008] Expression Restricted expression toward liver (RPKM 77.8) See more Orthologs mouse all
F13A1, Official Symbol F13A1provided by HGNC Official Full Name coagulation factor XIII A chainprovided by HGNC Primary source HGNC:HGNC:3531 See related Ensembl:ENSG00000124491 MIM:134570; AllianceGenome:HGNC:3531 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as F13A Summary 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] Expression Biased expression in placenta (RPKM 246.8), urinary bladder (RPKM 65.1) and 12 other tissues See more Orthologs mouse all
F13B, Official Symbol F13Bprovided by HGNC Official Full Name coagulation factor XIII B chainprovided by HGNC Primary source HGNC:HGNC:3534 See related Ensembl:ENSG00000143278 MIM:134580; AllianceGenome:HGNC:3534 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FXIIIB Summary This gene encodes coagulation factor XIII B 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 a plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon activation by the 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. 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] Expression Restricted expression toward liver (RPKM 37.1) See more Orthologs mouse all
F2, Official Symbol F2provided by HGNC Official Full Name coagulation factor II, thrombinprovided by HGNC Primary source HGNC:HGNC:3535 See related Ensembl:ENSG00000180210 MIM:176930; AllianceGenome:HGNC:3535 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PT; THPH1; RPRGL2 Summary This gene encodes the prothrombin protein (also known as coagulation factor II). This protein is proteolytically cleaved in multiple steps to form the activated serine protease thrombin. The activated thrombin enzyme plays an important role in thrombosis and hemostasis by converting fibrinogen to fibrin during blood clot formation, by stimulating platelet aggregation, and by activating additional coagulation factors. Thrombin also plays a role in cell proliferation, tissue repair, and angiogenesis as well as maintaining vascular integrity during development and postnatal life. Peptides derived from the C-terminus of this protein have antimicrobial activity against E. coli and P. aeruginosa. Mutations in this gene lead to various forms of thrombosis and dysprothrombinemia. Rapid increases in cytokine levels following coronavirus infections can dysregulate the coagulation cascade and produce thrombosis, compromised blood supply, and organ failure. [provided by RefSeq, May 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process. Expression Restricted expression toward liver (RPKM 385.8) See more Orthologs mouse all
F2R, Official Symbol F2Rprovided by HGNC Official Full Name coagulation factor II thrombin receptorprovided by HGNC Primary source HGNC:HGNC:3537 See related Ensembl:ENSG00000181104 MIM:187930; AllianceGenome:HGNC:3537 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TR; HTR; CF2R; PAR1; PAR-1 Summary Coagulation factor II receptor is a 7-transmembrane receptor involved in the regulation of thrombotic response. Proteolytic cleavage leads to the activation of the receptor. F2R is a G-protein coupled receptor family member. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] Expression Ubiquitous expression in spleen (RPKM 37.1), gall bladder (RPKM 26.8) and 21 other tissues See more Orthologs mouse all
F2RL1, Official Symbol F2RL1provided by HGNC Official Full Name F2R like trypsin receptor 1provided by HGNC Primary source HGNC:HGNC:3538 See related Ensembl:ENSG00000164251 MIM:600933; AllianceGenome:HGNC:3538 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PAR2; GPR11 Summary This gene encodes a member of the G-protein coupled receptor 1 family of proteins. The encoded cell surface receptor is activated through proteolytic cleavage of its extracellular amino terminus, resulting in a new amino terminus that acts as a tethered ligand that binds to an extracellular loop domain. Activation of the receptor has been shown to stimulate vascular smooth muscle relaxation, dilate blood vessels, increase blood flow, and lower blood pressure. This protein is also important in the inflammatory response, as well as innate and adaptive immunity. [provided by RefSeq, Jun 2016] Expression Broad expression in colon (RPKM 30.3), duodenum (RPKM 21.7) and 16 other tissues See more Orthologs mouse all
F2RL2, Official Symbol F2RL2provided by HGNC Official Full Name coagulation factor II thrombin receptor like 2provided by HGNC Primary source HGNC:HGNC:3539 See related Ensembl:ENSG00000164220 MIM:601919; AllianceGenome:HGNC:3539 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PAR3; PAR-3 Summary This gene encodes a member of the protease-activated receptor (PAR) family which is a subfamily of the seven transmembrane G protein-coupled cell surface receptor family. The encoded protein acts as a cofactor in the thrombin-mediated cleavage and activation of the protease-activated receptor family member PAR4. The encoded protein plays an essential role in hemostasis and thrombosis. Alternate splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Feb 2012] Expression Biased expression in gall bladder (RPKM 4.3), endometrium (RPKM 1.5) and 10 other tissues See more Orthologs mouse all
F2RL3, Official Symbol F2RL3provided by HGNC Official Full Name F2R like thrombin or trypsin receptor 3provided by HGNC Primary source HGNC:HGNC:3540 See related Ensembl:ENSG00000127533 MIM:602779; AllianceGenome:HGNC:3540 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PAR4 Summary This gene encodes a member of the protease-activated receptor subfamily, part of the G-protein coupled receptor 1 family of proteins. The encoded receptor is proteolytically processed to reveal an extracellular N-terminal tethered ligand that binds to and activates the receptor. This receptor plays a role in blood coagulation, inflammation and response to pain. Hypomethylation at this gene may be associated with lung cancer in human patients. [provided by RefSeq, Sep 2016] Expression Broad expression in fat (RPKM 1.9), stomach (RPKM 1.3) and 16 other tissues See more Orthologs mouse all
F3, Official Symbol F3provided by HGNC Official Full Name coagulation factor III, tissue factorprovided by HGNC Primary source HGNC:HGNC:3541 See related Ensembl:ENSG00000117525 MIM:134390; AllianceGenome:HGNC:3541 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TF; TFA; CD142 Summary This gene encodes coagulation factor III which is a cell surface glycoprotein. This factor enables cells to initiate the blood coagulation cascades, and it functions as the high-affinity receptor for the coagulation factor VII. The resulting complex provides a catalytic event that is responsible for initiation of the coagulation protease cascades by specific limited proteolysis. Unlike the other cofactors of these protease cascades, which circulate as nonfunctional precursors, this factor is a potent initiator that is fully functional when expressed on cell surfaces, for example, on monocytes. There are 3 distinct domains of this factor: extracellular, transmembrane, and cytoplasmic. Platelets and monocytes have been shown to express this coagulation factor under procoagulatory and proinflammatory stimuli, and a major role in HIV-associated coagulopathy has been described. Platelet-dependent monocyte expression of coagulation factor III has been described to be associated with Coronavirus Disease 2019 (COVID-19) severity and mortality. This protein is the only one in the coagulation pathway for which a congenital deficiency has not been described. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Aug 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process. Expression Ubiquitous expression in placenta (RPKM 54.0), gall bladder (RPKM 41.2) and 22 other tissues See more Orthologs mouse all
F5, Official Symbol F5provided by HGNC Official Full Name coagulation factor Vprovided by HGNC Primary source HGNC:HGNC:3542 See related Ensembl:ENSG00000198734 MIM:612309; AllianceGenome:HGNC:3542 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FVL; PCCF; THPH2; RPRGL1 Summary This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008] Expression Biased expression in liver (RPKM 48.1), placenta (RPKM 23.5) and 2 other tissues See more Orthologs mouse all
F7, Official Symbol F7provided by HGNC Official Full Name coagulation factor VIIprovided by HGNC Primary source HGNC:HGNC:3544 See related Ensembl:ENSG00000057593 MIM:613878; AllianceGenome:HGNC:3544 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SPCA Summary This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015] Expression Restricted expression toward liver (RPKM 23.8) See more Orthologs mouse all
F8, Official Symbol F8provided by HGNC Official Full Name coagulation factor VIIIprovided by HGNC Primary source HGNC:HGNC:3546 See related Ensembl:ENSG00000185010 MIM:300841; AllianceGenome:HGNC:3546 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AHF; F8B; F8C; HEMA; FVIII; THPH13; DXS1253E Summary This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 7.9), lung (RPKM 6.4) and 23 other tissues See more Orthologs mouse all
F8A1, Official Symbol F8A1provided by HGNC Official Full Name coagulation factor VIII associated 1provided by HGNC Primary source HGNC:HGNC:3547 See related Ensembl:ENSG00000288722 MIM:305423; AllianceGenome:HGNC:3547 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as F8A; HAP40; DXS522E Summary This gene is contained entirely within intron 22 of the factor VIII gene; spans less than 2 kb, and is transcribed in the direction opposite of factor VIII. A portion of intron 22 (int22h), containing F8A, is repeated twice extragenically closer to the Xq telomere. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008] Orthologs all
F8A2, Official Symbol F8A2provided by HGNC Official Full Name coagulation factor VIII associated 2provided by HGNC Primary source HGNC:HGNC:31849 See related Ensembl:ENSG00000288709 AllianceGenome:HGNC:31849 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HAP40 Summary This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008] Orthologs all
F8A3, Official Symbol F8A3provided by HGNC Official Full Name coagulation factor VIII associated 3provided by HGNC Primary source HGNC:HGNC:31850 See related Ensembl:ENSG00000277150 AllianceGenome:HGNC:31850 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HAP40 Summary This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most telomeric copy. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008] Orthologs all