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.
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Protein Aliases: cerebral cavernous malformation 2; Cerebral cavernous malformations 2 protein; Malcavernin; MGC4067; MGC4607; MGC74868; Oncostatin; OncostatinM; osmosensing scaffold for MEKK3
Gene Aliases: C7orf22; CCM2; OSM; PP10187
UniProt ID: (Human) Q9BSQ5
Entrez Gene ID: (Human) 83605