ITGA2B

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 (By similarity). Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen (PubMed:9111081). This step leads to rapid platelet aggregation which physically plugs ruptured endothelial cell surface (By similarity).

Glanzmann thrombasthenia 1

GT1

A form of Glanzmann thrombasthenia, a disorder characterized by failure of platelet aggregation, absent or diminished clot retraction, and mucocutaneous bleeding of mild-to-moderate severity. Glanzmann thrombasthenia has been classified into clinical types I and II. In type I, platelets show absence of glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express glycoprotein IIb-IIIa complexes at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. GT1 inheritance is autosomal recessive.

None

The disease is caused by variants affecting the gene represented in this entry.

Bleeding disorder, platelet-type, 16

BDPLT16

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Integrin alpha-IIb heavy chain

Cleaved by ELANE; the cleavage promotes activation of platelet fibrinogen receptor integrin alpha-IIb/beta-3.

Belongs to the integrin alpha chain family.

Isoform 1 and isoform 2 are expressed in platelets and megakaryocytes, but not in reticulocytes. Not detected in Jurkat, nor in U937 cell lines (PubMed:2351656). Isoform 3 is expressed in prostate adenocarcinoma, as well as in several erythroleukemia, prostate adenocarcinoma and melanoma cell lines, including PC-3, DU-145, HEL, WM983A, WM983B and WM35. Not detected in platelets, nor in normal prostate (at protein level) (PubMed:9809974).

• Membrane
• Single-pass type I membrane protein

CD41, GP2B, ITGAB, ITGA2B, Integrin alpha-IIb, GPalpha IIb, Platelet membrane glycoprotein IIb, GPIIb

• entrezGene:3674
• entrezGene:3690
• omim:173470
• omim:607759
• swissprot:P08514
• swissprot:P05106

Proteins

113377Da