ITGA2B

Integrin subunit alpha 2b (ITGA2B), also known as GT or CD41B, is a member of the integrin alpha chain family of proteins. The pro-ITGA2B is encoded by ITGA2B which can be cleaved by proteinase to produce a light and heavy chains with disulfide linkages. Then the alpha 2b is associated with beta-3 to form a cell adhesion receptor, αIIbβ3 integrin. The αIIbβ3 receptor can regulate platelet aggregation thereby mediating blood coagulation system.

The ITGA2B is biasedly expressed in multiple human tissues, such as bone marrow, testis, thyroid, spleen, endometrium, gallbladder, lung, placenta. Previous studies have been shown that ITGA2B is related to the progress of varieties of Glanzmann thrombasthenia. The evidence is mounting suggesting that the mutations in ITGA2B gene induce the functions deficiency of αIIbβ3 receptor, then block platelet aggregation, resulting in coagulation dysfunction. And mutations in ITGA2B gene are seen in most Glanzmann thrombasthenia patients. In addition, ITGA2B were also identified as independent prognostic factors of overall survival of clear cell renal cell carcinoma patients (ccRCC).
Gene ID: 3674
UniProt ID: P08514