GeneID: 108
Names
Common Name: | ITGA2B | Type: | Gene |
---|---|---|---|
Chromosome: | 17 (NC_000017.11) | Locus: | NG_008331.1 (ITGA2B) |
HUGO Symbol: | ITGA2B | Full Name: | integrin subunit alpha 2b |
Exons: | 30 | Introns: | 29 |
Description:
The encoded protein belongs to the family of human platelet alloantigens (HPA), membrane glycoproteins (GPs) that form complexes with other cell-bound factors to mediate platelet adhesion and activation. This gene encodes platelet glycoprotein IIb (GPIIb), the alpha subunit of the platelet membrane receptor complex GPIIb/IIIa (αIIbβ3) and member of the integrin family. Integrins are heterodimeric, membrane-spanning receptors composed of one α- and one β-subunit, with key roles in cell adhesion and signalling. The αIIbβ3 complex is formed via Ca2+-dependent association of the GPIIb and GPIIIa subunits. It binds plasma-borne adhesive proteins containing the arginine-glycine-aspartic acid (RGD) sequence, such as fibrinogen, fibronectin, vitronectin, thrombospondin and von Willebrand factor. It plays an important role in platelet aggregation and endothelial adherence, forming a platelet plug at sites of vascular injury. Mutations in this gene are associated with platelet-type bleeding disorders, such as Glanzmann's thrombasthenia. Polymorphisms in this gene associated with vaso-occlusive pain crises in sickle cell anemia patients.
Synonyms: HPA3 , GP2B , CD41 , CD41B , PPP1R93
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- Ma YQ, Qin J, Plow EF, Platelet integrin alpha(IIb)beta(3): activation mechanisms., J. Thromb. Haemost. , 5(7), 1345-52, 2007
- Al-Subaie AM, Fawaz NA, Mahdi N, Al-Absi IK, Al-Ola K, Ameen G, Almawi WY, Human platelet alloantigens (HPA) 1, HPA2, HPA3, HPA4, and HPA5 polymorphisms in sickle cell anemia patients with vaso-occlusive crisis., Eur. J. Haematol. , 83(6), 579-85, 2009
- Bledzka K, Smyth SS, Plow EF, Integrin αIIbβ3: from discovery to efficacious therapeutic target., Circ. Res. , 112(8), 1189-200, 2013
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2016-04-27 12:13:34 | The IthaGenes Curation Team | Created |