XB-FEAT-1013936

ccm2

This is the community wiki page for the gene ccm2 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

nomenclature changes

undated change Human name has changed for Entrez Gene: 83605 from cerebral cavernous malformation 2 to CCM2 scaffolding protein

03.12.18 Human name has changed for Entrez Gene: 83605. From CCM2 scaffolding protein to CCM2 scaffold protein

Summary from NCBI

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.[provided by RefSeq, Nov 2009]