Homo sapiens Protein: ITGA2B | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-53912.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | ITGA2B | ||||||||||||||||||||||
Protein Name | integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) | ||||||||||||||||||||||
Synonyms | BDPLT16; BDPLT2; CD41; CD41B; GP2B; GPIIb; GT; GTA; HPA3; PPP1R93; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000262407 | ||||||||||||||||||||||
InnateDB Gene | IDBG-53910 (ITGA2B) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Integrin alpha-IIb/beta-3 is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. It recognizes the sequence R-G-D in a wide array of ligands. It recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following activation integrin alpha- IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial cell surface. | ||||||||||||||||||||||
Subcellular Localization | Membrane; Single-pass type I membrane protein. | ||||||||||||||||||||||
Disease Associations | Glanzmann thrombasthenia (GT) [MIM:273800]: A common inherited disease of platelet aggregation. It is characterized by mucocutaneous bleeding of mild-to-moderate severity. GT has been classified clinically into types I and II. In type I, platelets show absence of the glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express the GPIIb-IIIa complex at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. {ECO:0000269PubMed:10607701, ECO:0000269PubMed:11798398, ECO:0000269PubMed:12083483, ECO:0000269PubMed:12181054, ECO:0000269PubMed:12424194, ECO:0000269PubMed:12506038, ECO:0000269PubMed:15099289, ECO:0000269PubMed:15219201, ECO:0000269PubMed:17018384, ECO:0000269PubMed:20020534, ECO:0000269PubMed:7508443, ECO:0000269PubMed:7706461, ECO:0000269PubMed:8282784, ECO:0000269PubMed:8704171, ECO:0000269PubMed:9215749, ECO:0000269PubMed:9473221, ECO:0000269PubMed:9722314, ECO:0000269PubMed:9734640, ECO:0000269PubMed:9763559, ECO:0000269PubMed:9920835}. Note=The disease is caused by mutations affecting the gene represented in this entry.Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800]: An autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities. {ECO:0000269PubMed:21454453, ECO:0000269PubMed:9834222}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Isoform 1 and isoform 2 were identified in platelets and megakaryocytes, but not in reticulocytes or in Jurkat and U-937 white blood cell line. Isoform 3 is expressed by leukemia, prostate adenocarcinoma and melanoma cells but not by platelets or normal prostate or breast epithelial cells. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000413
Integrin alpha chain IPR013517 FG-GAP repeat IPR013519 Integrin alpha beta-propellor IPR013649 Integrin alpha-2 IPR018184 Integrin alpha chain, C-terminal cytoplasmic region, conserved site |
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PFAM |
PF01839
PF14312 PF08441 PF00357 |
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PRINTS |
PR01185
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PIRSF | |||||||||||||||||||||||
SMART |
SM00191
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | P08514 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-P08514 | ||||||||||||||||||||||
TrEMBL | Q6LDK5 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 3674 | ||||||||||||||||||||||
UniGene | Hs.411312 | ||||||||||||||||||||||
RefSeq | NP_000410 | ||||||||||||||||||||||
HUGO | HGNC:6138 | ||||||||||||||||||||||
OMIM | 607759 | ||||||||||||||||||||||
CCDS | CCDS32665 | ||||||||||||||||||||||
HPRD | 06377 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC003043 AF098114 AK315335 BC117443 BC126442 HQ202726 J02764 JQ964059 M18085 M22568 M22569 M33319 M33320 M34344 M34480 M54799 X06831 | ||||||||||||||||||||||
GenPept | AAA35926 AAA52587 AAA52588 AAA52597 AAA52598 AAA52599 AAA53150 AAA60114 AAC98507 AAI17444 AAI26443 ADZ28530 AFN53559 BAG37735 CAA29987 | ||||||||||||||||||||||