GeneID: 109



Names

Common Name: ITGA2 Type: Gene
Chromosome: 5 (NC_000005.10) Locus: NG_008330.1 (ITGA2)
HUGO Symbol: ITGA2 Full Name: integrin subunit alpha 2
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 membrane glycoprotein Iα (GPIα), the α subunit of the collagen membrane receptor complex GPIα/IIα (α2β1) 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 α2β1 complex primarily functions to facililate adhesion of platelets to fibrillar collagens at sites of vascular damage. Mutations abrogating the function of this gene are associated with bleeding disorder platelet-type 9, while antibodies against its protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. Polymorphisms in this gene associated with vaso-occlusive crises in sickle cell anemia patients. Alternative splicing results in multiple transcript variants.

Synonyms: BR , GPIa , CD49B , HPA-5 , VLA-2 , VLAA2

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Jarvis GE, Atkinson BT, Snell DC, Watson SP, Distinct roles of GPVI and integrin alpha(2)beta(1) in platelet shape change and aggregation induced by different collagens., Br. J. Pharmacol. , 137(1), 107-17, 2002 PubMed
  2. Castro V, Alberto FL, Costa RN, Lepikson-Neto J, Gualandro SF, Figueiredo MS, Annichino-Bizzacchi JM, Saad ST, Costa FF, Polymorphism of the human platelet antigen-5 system is a risk factor for occlusive vascular complications in patients with sickle cell anemia., Vox Sang. , 87(2), 118-23, 2004 PubMed
  3. Fertrin KY, Costa FF, Genomic polymorphisms in sickle cell disease: implications for clinical diversity and treatment., Expert Rev Hematol , 3(4), 443-58, 2010 PubMed
Created on 2016-04-27 12:26:36, Last reviewed on (Show full history)


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