{"symbol":"CCM2","synonyms":["C7ORF22","OSM","PP10187"],"name":"cerebral cavernous malformation 2","description":"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]","ncbiEntrezGeneId":83605,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/83605","proteins":[{"symbol":"CCM2_HUMAN","href":"/api/1.0/protein/CCM2_HUMAN"}],"hgncRootFamilies":[]}