DISEASES

Disease-gene associations mined from literature

Literature associating ITGA2 and Boomerang dysplasia

ITGA2 [ENSP00000296585]

Integrin alpha-2; Integrin alpha-2/beta-1 is a receptor for laminin, collagen, collagen C-propeptides, fibronectin and E-cadherin. It recognizes the proline-hydroxylated sequence G-F-P-G-E-R in collagen. It is responsible for adhesion of platelets and other cells to collagens, modulation of collagen and collagenase gene expression, force generation and organization of newly synthesized extracellular matrix. (Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human echoviruses 1 and 8.

Synonyms:  ITGA2,  ITGA2p,  hITGA2,  D6R9H3,  D6RG08 ...

Linkouts:  STRING  Pharos  UniProt  OMIM