psui3905/ncbi_genes_summary huggingface dataset:
ISYNA1, Official Symbol ISYNA1provided by HGNC Official Full Name inositol-3-phosphate synthase 1provided by HGNC Primary source HGNC:HGNC:29821 See related Ensembl:ENSG00000105655 MIM:611670; AllianceGenome:HGNC:29821 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 IPS; INO1; INOS; IPS 1; IPS-1 Summary This gene encodes an inositol-3-phosphate synthase enzyme. The encoded protein plays a critical role in the myo-inositol biosynthesis pathway by catalyzing the rate-limiting conversion of glucose 6-phosphate to myoinositol 1-phosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011] Expression Broad expression in testis (RPKM 72.6), placenta (RPKM 57.0) and 14 other tissues See more Orthologs mouse all
ITCH, Official Symbol ITCHprovided by HGNC Official Full Name itchy E3 ubiquitin protein ligaseprovided by HGNC Primary source HGNC:HGNC:13890 See related Ensembl:ENSG00000078747 MIM:606409; AllianceGenome:HGNC:13890 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 AIF4; AIP4; ADMFD; NAPP1 Summary This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in testis (RPKM 12.7), esophagus (RPKM 11.6) and 25 other tissues See more Orthologs mouse all
ITFG1, Official Symbol ITFG1provided by HGNC Official Full Name integrin alpha FG-GAP repeat containing 1provided by HGNC Primary source HGNC:HGNC:30697 See related Ensembl:ENSG00000129636 MIM:611803; AllianceGenome:HGNC:30697 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 TIP; CDA08; LINKIN; LNKN-1; 2310047C21Rik Summary Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 35.9), adrenal (RPKM 25.7) and 25 other tissues See more Orthologs mouse all
ITFG1-AS1, Official Symbol ITFG1-AS1provided by HGNC Official Full Name ITFG1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51383 See related AllianceGenome:HGNC:51383 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 Broad expression in testis (RPKM 15.7), brain (RPKM 7.4) and 25 other tissues See more
ITFG2, Official Symbol ITFG2provided by HGNC Official Full Name integrin alpha FG-GAP repeat containing 2provided by HGNC Primary source HGNC:HGNC:30879 See related Ensembl:ENSG00000111203 MIM:617421; AllianceGenome:HGNC:30879 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 KICS3; FGGAP1; MDS028 Summary Involved in cellular response to amino acid starvation; cellular response to glucose starvation; and negative regulation of TORC1 signaling. Located in lysosomal membrane. Part of KICSTOR complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 9.5), ovary (RPKM 9.0) and 25 other tissues See more Orthologs mouse all
ITGA1, Official Symbol ITGA1provided by HGNC Official Full Name integrin subunit alpha 1provided by HGNC Primary source HGNC:HGNC:6134 See related Ensembl:ENSG00000213949 MIM:192968; AllianceGenome:HGNC:6134 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 VLA1; CD49a Summary This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 48.2), placenta (RPKM 40.6) and 19 other tissues See more Orthologs mouse all
ITGA10, Official Symbol ITGA10provided by HGNC Official Full Name integrin subunit alpha 10provided by HGNC Primary source HGNC:HGNC:6135 See related Ensembl:ENSG00000143127 MIM:604042; AllianceGenome:HGNC:6135 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 PRO827 Summary Integrins are integral transmembrane glycoproteins composed of noncovalently linked alpha and beta chains. They participate in cell adhesion as well as cell-surface mediated signalling. This gene encodes an integrin alpha chain and is expressed at high levels in chondrocytes, where it is transcriptionally regulated by AP-2epsilon and Ets-1. The protein encoded by this gene binds to collagen. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] Expression Broad expression in lung (RPKM 2.4), heart (RPKM 1.3) and 22 other tissues See more Orthologs mouse all
ITGA11, Official Symbol ITGA11provided by HGNC Official Full Name integrin subunit alpha 11provided by HGNC Primary source HGNC:HGNC:6136 See related Ensembl:ENSG00000137809 MIM:604789; AllianceGenome:HGNC:6136 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 HsT18964 Summary This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008] Expression Biased expression in endometrium (RPKM 12.1), urinary bladder (RPKM 2.7) and 13 other tissues See more Orthologs mouse all
ITGA2, Official Symbol ITGA2provided by HGNC Official Full Name integrin subunit alpha 2provided by HGNC Primary source HGNC:HGNC:6137 See related Ensembl:ENSG00000164171 MIM:192974; AllianceGenome:HGNC:6137 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 BR; GPIa; CD49B; HPA-5; VLA-2; VLAA2 Summary This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] Expression Broad expression in skin (RPKM 8.4), adrenal (RPKM 7.9) and 21 other tissues See more Orthologs mouse all
ITGA2B, Official Symbol ITGA2Bprovided by HGNC Official Full Name integrin subunit alpha 2bprovided by HGNC Primary source HGNC:HGNC:6138 See related Ensembl:ENSG00000005961 MIM:607759; AllianceGenome:HGNC:6138 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 GT; GT1; GTA; CD41; GP2B; HPA3; CD41B; GPIIb; BDPLT2; BDPLT16; PPP1R93 Summary 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] Expression Biased expression in bone marrow (RPKM 6.2), testis (RPKM 1.4) and 8 other tissues See more Orthologs mouse all
ITGA3, Official Symbol ITGA3provided by HGNC Official Full Name integrin subunit alpha 3provided by HGNC Primary source HGNC:HGNC:6139 See related Ensembl:ENSG00000005884 MIM:605025; AllianceGenome:HGNC:6139 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 JEB7; VL3A; CD49C; FRP-2; GAPB3; ILNEB; MSK18; VCA-2; VLA3a; GAP-B3 Summary The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function as cell surface adhesion molecules. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 3 subunit. This subunit joins with a beta 1 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. Expression of this gene may be correlated with breast cancer metastasis. [provided by RefSeq, Oct 2015] Expression Broad expression in lung (RPKM 53.0), thyroid (RPKM 21.5) and 19 other tissues See more Orthologs mouse all
ITGA4, Official Symbol ITGA4provided by HGNC Official Full Name integrin subunit alpha 4provided by HGNC Primary source HGNC:HGNC:6140 See related Ensembl:ENSG00000115232 MIM:192975; AllianceGenome:HGNC:6140 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 IA4; CD49D Summary The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integrin that may play a role in cell motility and migration. This integrin is a therapeutic target for the treatment of multiple sclerosis, Crohn's disease and inflammatory bowel disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] Expression Broad expression in spleen (RPKM 22.7), appendix (RPKM 22.2) and 17 other tissues See more Orthologs mouse all
ITGA5, Official Symbol ITGA5provided by HGNC Official Full Name integrin subunit alpha 5provided by HGNC Primary source HGNC:HGNC:6141 See related Ensembl:ENSG00000161638 MIM:135620; AllianceGenome:HGNC:6141 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 FNRA; CD49e; VLA-5; VLA5A Summary The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 5 subunit. This subunit associates with the beta 1 subunit to form a fibronectin receptor. This integrin may promote tumor invasion, and higher expression of this gene may be correlated with shorter survival time in lung cancer patients. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015] Expression Broad expression in appendix (RPKM 85.6), urinary bladder (RPKM 54.1) and 19 other tissues See more Orthologs mouse all
ITGA6, Official Symbol ITGA6provided by HGNC Official Full Name integrin subunit alpha 6provided by HGNC Primary source HGNC:HGNC:6142 See related Ensembl:ENSG00000091409 MIM:147556; AllianceGenome:HGNC:6142 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 JEB6; CD49f; VLA-6; ITGA6A; ITGA6B Summary The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] Expression Ubiquitous expression in colon (RPKM 44.7), placenta (RPKM 40.9) and 24 other tissues See more Orthologs mouse all
ITGA6-AS1, Official Symbol ITGA6-AS1provided by HGNC Official Full Name ITGA6 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40308 See related Ensembl:ENSG00000232788 AllianceGenome:HGNC:40308 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 small intestine (RPKM 1.6), spleen (RPKM 1.4) and 25 other tissues See more
ITGA7, Official Symbol ITGA7provided by HGNC Official Full Name integrin subunit alpha 7provided by HGNC Primary source HGNC:HGNC:6143 See related Ensembl:ENSG00000135424 MIM:600536; AllianceGenome:HGNC:6143 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 The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2009] Expression Biased expression in fat (RPKM 86.9), heart (RPKM 53.0) and 9 other tissues See more Orthologs mouse all
ITGA8, Official Symbol ITGA8provided by HGNC Official Full Name integrin subunit alpha 8provided by HGNC Primary source HGNC:HGNC:6144 See related Ensembl:ENSG00000077943 MIM:604063; AllianceGenome:HGNC:6144 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 Integrins are heterodimeric transmembrane receptor proteins that mediate numerous cellular processes including cell adhesion, cytoskeletal rearrangement, and activation of cell signaling pathways. Integrins are composed of alpha and beta subunits. This gene encodes the alpha 8 subunit of the heterodimeric integrin alpha8beta1 protein. The encoded protein is a single-pass type 1 membrane protein that contains multiple FG-GAP repeats. This repeat is predicted to fold into a beta propeller structure. This gene regulates the recruitment of mesenchymal cells into epithelial structures, mediates cell-cell interactions, and regulates neurite outgrowth of sensory and motor neurons. The integrin alpha8beta1 protein thus plays an important role in wound-healing and organogenesis. Mutations in this gene have been associated with renal hypodysplasia/aplasia-1 (RHDA1) and with several animal models of chronic kidney disease. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2014] Expression Broad expression in prostate (RPKM 17.7), lung (RPKM 11.8) and 17 other tissues See more Orthologs mouse all
ITGA9, Official Symbol ITGA9provided by HGNC Official Full Name integrin subunit alpha 9provided by HGNC Primary source HGNC:HGNC:6145 See related Ensembl:ENSG00000144668 MIM:603963; AllianceGenome:HGNC:6145 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 RLC; ITGA4L; ALPHA-RLC Summary This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 11.9), spleen (RPKM 11.4) and 24 other tissues See more Orthologs mouse all
ITGA9-AS1, Official Symbol ITGA9-AS1provided by HGNC Official Full Name ITGA9 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:49668 See related Ensembl:ENSG00000235257 AllianceGenome:HGNC:49668 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 ovary (RPKM 2.3), prostate (RPKM 2.1) and 24 other tissues See more
ITGAD, Official Symbol ITGADprovided by HGNC Official Full Name integrin subunit alpha Dprovided by HGNC Primary source HGNC:HGNC:6146 See related Ensembl:ENSG00000156886 MIM:602453; AllianceGenome:HGNC:6146 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 ADB2; CD11D Summary This gene belongs to the beta-2 integrin family of membrane glycoproteins, which are are composed of non-covalently linked alpha and beta subunits to form a heterodimer. It encodes the alpha subunit of the cell surface heterodimers and is involved in the activation and adhesion functions of leukocytes. The gene is located about 11kb downstream of the integrin subunit alpha X gene, another member of the integrin family. It is expressed in the tissue and circulating myeloid leukocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Expression Biased expression in spleen (RPKM 11.2), lymph node (RPKM 2.1) and 2 other tissues See more Orthologs mouse all
ITGAE, Official Symbol ITGAEprovided by HGNC Official Full Name integrin subunit alpha Eprovided by HGNC Primary source HGNC:HGNC:6147 See related Ensembl:ENSG00000083457 MIM:604682; AllianceGenome:HGNC:6147 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 CD103; HUMINAE Summary Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 3.1), small intestine (RPKM 2.6) and 25 other tissues See more Orthologs mouse all
ITGAL, Official Symbol ITGALprovided by HGNC Official Full Name integrin subunit alpha Lprovided by HGNC Primary source HGNC:HGNC:6148 See related Ensembl:ENSG00000005844 MIM:153370; AllianceGenome:HGNC:6148 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 CD11A; LFA-1; LFA1A Summary ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligands, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), and also functions in lymphocyte costimulatory signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in lymph node (RPKM 36.8), spleen (RPKM 35.7) and 11 other tissues See more Orthologs mouse all
ITGAM, Official Symbol ITGAMprovided by HGNC Official Full Name integrin subunit alpha Mprovided by HGNC Primary source HGNC:HGNC:6149 See related Ensembl:ENSG00000169896 MIM:120980; AllianceGenome:HGNC:6149 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 CR3A; MO1A; CD11B; MAC-1; MAC1A; SLEB6 Summary This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Expression Biased expression in bone marrow (RPKM 72.3), appendix (RPKM 14.6) and 6 other tissues See more Orthologs mouse all
ITGAV, Official Symbol ITGAVprovided by HGNC Official Full Name integrin subunit alpha Vprovided by HGNC Primary source HGNC:HGNC:6150 See related Ensembl:ENSG00000138448 MIM:193210; AllianceGenome:HGNC:6150 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 CD51; MSK8; VNRA; VTNR Summary The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha V subunit. This subunit associates with beta 1, beta 3, beta 5, beta 6 and beta 8 subunits. The heterodimer consisting of alpha V and beta 3 subunits is also known as the vitronectin receptor. This integrin may regulate angiogenesis and cancer progression. Alternative splicing results in multiple transcript variants. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015] Expression Ubiquitous expression in thyroid (RPKM 45.9), ovary (RPKM 36.3) and 24 other tissues See more Orthologs mouse all
ITGAX, Official Symbol ITGAXprovided by HGNC Official Full Name integrin subunit alpha Xprovided by HGNC Primary source HGNC:HGNC:6152 See related Ensembl:ENSG00000140678 MIM:151510; AllianceGenome:HGNC:6152 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 CD11C; SLEB6 Summary This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] Expression Biased expression in spleen (RPKM 34.3), appendix (RPKM 32.4) and 12 other tissues See more Orthologs mouse all
ITGB1, Official Symbol ITGB1provided by HGNC Official Full Name integrin subunit beta 1provided by HGNC Primary source HGNC:HGNC:6153 See related Ensembl:ENSG00000150093 MIM:135630; AllianceGenome:HGNC:6153 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 CD29; FNRB; MDF2; VLAB; GPIIA; MSK12; VLA-BETA Summary Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 292.8), gall bladder (RPKM 214.5) and 25 other tissues See more Orthologs mouse all
ITGB1-DT, Official Symbol ITGB1-DTprovided by HGNC Official Full Name ITGB1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:53718 See related Ensembl:ENSG00000229656 AllianceGenome:HGNC:53718 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 LincIN Expression Low expression observed in reference dataset See more
ITGB1BP1, Official Symbol ITGB1BP1provided by HGNC Official Full Name integrin subunit beta 1 binding protein 1provided by HGNC Primary source HGNC:HGNC:23927 See related Ensembl:ENSG00000119185 MIM:607153; AllianceGenome:HGNC:23927 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 ICAP1; ICAP1A; ICAP1B; ICAP-1A; ICAP-1B; ICAP-1alpha Summary The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 integrin cytoplasmic domain. The interaction between this protein and beta1 integrin is highly specific. Two isoforms of this protein are derived from alternatively spliced transcripts. The shorter form of this protein does not interact with the beta1 integrin cytoplasmic domain. The longer form is a phosphoprotein and the extent of its phosphorylation is regulated by the cell-matrix interaction, suggesting an important role of this protein during integrin-dependent cell adhesion. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016] Expression Broad expression in fat (RPKM 65.6), brain (RPKM 11.2) and 22 other tissues See more Orthologs mouse all
ITGB1BP2, Official Symbol ITGB1BP2provided by HGNC Official Full Name integrin subunit beta 1 binding protein 2provided by HGNC Primary source HGNC:HGNC:6154 See related Ensembl:ENSG00000147166 MIM:300332; AllianceGenome:HGNC:6154 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 CHORDC3; ITGB1BP; MELUSIN; MSTP015 Summary This gene encodes a protein with two cysteine and histidine-rich (CHORD) domains, PXXP motifs, YXXI/P motifs, putative SH2 and SH3 domain binding motifs, and an acidic region at the C-terminus that can bind calcium. Two hybrid analysis showed that this protein interacts with the cytoplasmic domain of the beta 1 integrin subunit and is thought to act as a chaperone protein. Studies in the mouse ortholog of this gene indicate that absence of this gene in mouse results in failed cardiac hypertrophy in response to mechanical stress. Alternative splicing results in multiple transcript variants encoding different isoforms, including an isoform that lacks several domains, including one of the CHORD domains. [provided by RefSeq, May 2017] Expression Biased expression in heart (RPKM 22.0), prostate (RPKM 2.3) and 3 other tissues See more Orthologs mouse all
ITGB1P1, Official Symbol ITGB1P1provided by HGNC Official Full Name integrin subunit beta 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:3781 See related AllianceGenome:HGNC:3781 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 FNRBL; ITGB1L
ITGB2, Official Symbol ITGB2provided by HGNC Official Full Name integrin subunit beta 2provided by HGNC Primary source HGNC:HGNC:6155 See related Ensembl:ENSG00000160255 MIM:600065; AllianceGenome:HGNC:6155 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 LAD; CD18; MF17; MFI7; LCAMB; LFA-1; MAC-1 Summary This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] Expression Broad expression in bone marrow (RPKM 117.8), appendix (RPKM 80.8) and 14 other tissues See more Orthologs mouse all
ITGB2-AS1, Official Symbol ITGB2-AS1provided by HGNC Official Full Name ITGB2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44304 See related Ensembl:ENSG00000227039 AllianceGenome:HGNC:44304 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 lymph node (RPKM 28.6), spleen (RPKM 18.0) and 7 other tissues See more
ITGB3, Official Symbol ITGB3provided by HGNC Official Full Name integrin subunit beta 3provided by HGNC Primary source HGNC:HGNC:6156 See related Ensembl:ENSG00000259207 MIM:173470; AllianceGenome:HGNC:6156 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 GT; GT2; CD61; GP3A; BDPLT2; GPIIIa; BDPLT16; BDPLT24 Summary The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008] Expression Broad expression in thyroid (RPKM 33.0), endometrium (RPKM 10.1) and 14 other tissues See more Orthologs mouse all
ITGB3BP, Official Symbol ITGB3BPprovided by HGNC Official Full Name integrin subunit beta 3 binding proteinprovided by HGNC Primary source HGNC:HGNC:6157 See related Ensembl:ENSG00000142856 MIM:605494; AllianceGenome:HGNC:6157 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 CENPR; NRIF3; TAP20; CENP-R; HSU37139 Summary This gene encodes a transcriptional coregulator that binds to and enhances the activity of members of the nuclear receptor families, thyroid hormone receptors and retinoid X receptors. This protein also acts as a corepressor of NF-kappaB-dependent signaling. This protein induces apoptosis in breast cancer cells through a caspase 2-mediated signaling pathway. This protein is also a component of the centromere-specific histone H3 variant nucleosome associated complex (CENP-NAC) and may be involved in mitotic progression by recruiting the histone H3 variant CENP-A to the centromere. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in testis (RPKM 5.3), adrenal (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
ITGB4, Official Symbol ITGB4provided by HGNC Official Full Name integrin subunit beta 4provided by HGNC Primary source HGNC:HGNC:6158 See related Ensembl:ENSG00000132470 MIM:147557; AllianceGenome:HGNC:6158 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 CD104; GP150; JEB5A; JEB5B Summary Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in stomach (RPKM 27.7), skin (RPKM 23.3) and 19 other tissues See more Orthologs mouse all
ITGB5, Official Symbol ITGB5provided by HGNC Official Full Name integrin subunit beta 5provided by HGNC Primary source HGNC:HGNC:6160 See related Ensembl:ENSG00000082781 MIM:147561; AllianceGenome:HGNC:6160 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 beta subunit of integrin, which can combine with different alpha chains to form a variety of integrin heterodimers. Integrins are integral cell-surface receptors that participate in cell adhesion as well as cell-surface mediated signaling. The alphav beta5 integrin is involved in adhesion to vitronectin. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in placenta (RPKM 40.4), gall bladder (RPKM 34.0) and 24 other tissues See more Orthologs mouse all
ITGB5-AS1, Official Symbol ITGB5-AS1provided by HGNC Official Full Name ITGB5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40309 See related AllianceGenome:HGNC:40309 Gene type ncRNA 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
ITGB6, Official Symbol ITGB6provided by HGNC Official Full Name integrin subunit beta 6provided by HGNC Primary source HGNC:HGNC:6161 See related Ensembl:ENSG00000115221 MIM:147558; AllianceGenome:HGNC:6161 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 AI1H Summary This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms a dimer with an alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Expression Biased expression in lung (RPKM 25.8), urinary bladder (RPKM 17.2) and 12 other tissues See more Orthologs mouse all
ITGB7, Official Symbol ITGB7provided by HGNC Official Full Name integrin subunit beta 7provided by HGNC Primary source HGNC:HGNC:6162 See related Ensembl:ENSG00000139626 MIM:147559; AllianceGenome:HGNC:6162 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 protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms dimers with an alpha4 chain or an alphaE chain and plays a role in leukocyte adhesion. Dimerization with alpha4 forms a homing receptor for migration of lymphocytes to the intestinal mucosa and Peyer's patches. Dimerization with alphaE permits binding to the ligand epithelial cadherin, a calcium-dependent adhesion molecule. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013] Expression Broad expression in spleen (RPKM 15.4), lymph node (RPKM 15.4) and 19 other tissues See more Orthologs mouse all
ITGB8, Official Symbol ITGB8provided by HGNC Official Full Name integrin subunit beta 8provided by HGNC Primary source HGNC:HGNC:6163 See related Ensembl:ENSG00000105855 MIM:604160; AllianceGenome:HGNC:6163 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 is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] Expression Broad expression in kidney (RPKM 12.1), brain (RPKM 11.6) and 19 other tissues See more Orthologs mouse all
ITGB8-AS1, Official Symbol ITGB8-AS1provided by HGNC Official Full Name ITGB8 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:55257 See related Ensembl:ENSG00000271133 AllianceGenome:HGNC:55257 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 Broad expression in salivary gland (RPKM 2.8), kidney (RPKM 2.4) and 22 other tissues See more
ITGBL1, Official Symbol ITGBL1provided by HGNC Official Full Name integrin subunit beta like 1provided by HGNC Primary source HGNC:HGNC:6164 See related Ensembl:ENSG00000198542 MIM:604234; AllianceGenome:HGNC:6164 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 OSCP; TIED Summary This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] Expression Broad expression in gall bladder (RPKM 11.4), lung (RPKM 9.5) and 18 other tissues See more Orthologs mouse all
ITIH1, Official Symbol ITIH1provided by HGNC Official Full Name inter-alpha-trypsin inhibitor heavy chain 1provided by HGNC Primary source HGNC:HGNC:6166 See related Ensembl:ENSG00000055957 MIM:147270; AllianceGenome:HGNC:6166 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 H1P; ITIH; SHAP; IATIH; IGHEP1; ITI-HC1 Summary This gene encodes a member of the inter-alpha-trypsin inhibitor 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 heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015] Expression Restricted expression toward liver (RPKM 383.5) See more Orthologs mouse all
ITIH2, Official Symbol ITIH2provided by HGNC Official Full Name inter-alpha-trypsin inhibitor heavy chain 2provided by HGNC Primary source HGNC:HGNC:6167 See related Ensembl:ENSG00000151655 MIM:146640; AllianceGenome:HGNC:6167 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 H2P; SHAP; ITI-HC2 Summary The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009] Expression Restricted expression toward liver (RPKM 486.6) See more Orthologs mouse all
ITIH3, Official Symbol ITIH3provided by HGNC Official Full Name inter-alpha-trypsin inhibitor heavy chain 3provided by HGNC Primary source HGNC:HGNC:6168 See related Ensembl:ENSG00000162267 MIM:146650; AllianceGenome:HGNC:6168 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 H3P; SHAP; ITI-HC3 Summary This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of this gene may be associated with increased risk for schizophrenia and major depressive disorder. This gene is present in an inter-alpha-trypsin inhibitor family gene cluster on chromosome 3. [provided by RefSeq, Jul 2015] Expression Restricted expression toward liver (RPKM 228.8) See more Orthologs mouse all