CCM2 Proteins

Protein Information

This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.

Synonyms

BC029157; C7orf22; CCM2; CCM2 scaffolding protein; cerebral cavernous malformation 2; cerebral cavernous malformation 2 homolog; cerebral cavernous malformations 2 protein; Cerebral cavernous malformations protein 2 homolog; malcavernin; MGC4067; MGC4607; MGC74868; Oncostatin; OncostatinM; OSM; Osmosensing scaffold for MEKK3; PP10187