CCM2

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.

Full Name

CCM2 Scaffolding Protein

Function

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).

Biological Process

Blood vessel endothelial cell differentiation Source: Ensembl
Cell-cell junction organization Source: Ensembl
Endothelial cell development Source: Ensembl
Endothelial tube morphogenesis Source: MGI
Inner ear development Source: Ensembl
Integrin-mediated signaling pathway Source: UniProtKB
In utero embryonic development Source: Ensembl
Multicellular organism growth Source: Ensembl
Pericardium development Source: Ensembl
Stress-activated MAPK cascade Source: UniProtKB
Vasculogenesis Source: UniProtKB
Venous blood vessel morphogenesis Source: Ensembl

Cellular Location

Cytoplasm

Involvement in disease

Cerebral cavernous malformations 2 (CCM2): A congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters.