Aliases for CCM2 Gene
External Ids for CCM2 Gene
Previous HGNC Symbols for CCM2 Gene
Previous GeneCards Identifiers for CCM2 Gene
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]
GeneCards Summary for CCM2 Gene
CCM2 (CCM2 Scaffolding Protein) is a Protein Coding gene. Diseases associated with CCM2 include Cerebral Cavernous Malformations 2 and Cavernous Hemangioma. Among its related pathways are p38 MAPK signaling pathway (Pathway Interaction Database) and Regulation of p38-alpha and p38-beta. An important paralog of this gene is CCM2L.
UniProtKB/Swiss-Prot for CCM2 Gene
Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3-dependent p38 activation induced by hyperosmotic shock (By similarity).