CCM2, Official Symbol CCM2provided by HGNC Official Full Name CCM2 scaffold proteinprovided by HGNC Primary source HGNC:HGNC:21708 See related Ensembl:ENSG00000136280 MIM:607929; AllianceGenome:HGNC:21708 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OSM; C7orf22; PP10187 Summary 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] Expression Ubiquitous expression in lymph node (RPKM 10.3), spleen (RPKM 8.5) and 25 other tissues See more Orthologs mouse all