DISEASES

Disease-gene associations mined from literature

Literature associating CAV2 and episodic ataxia

CAV2 [ENSP00000222693]

Caveolin-2; May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. Acts as an accessory protein in conjunction with CAV1 in targeting to lipid rafts and driving caveolae formation. The Ser-36 phosphorylated form has a role in modulating mitosis in endothelial cells. Positive regulator of cellular mitogenesis of the MAPK signaling pathway. Required for the insulin-stimulated nuclear translocation and activation of MAPK1 and STAT3, and the subsequent regulation of cell cycle progression (By similarity).

Synonyms:  CAV2,  CAV2p,  hCAV2,  E9PCT3,  P51636 ...

Linkouts:  STRING  Pharos  UniProt  OMIM