Recombinant Human Malcavernin (CCM2)

Uniprot Id

Q9BSQ5

Target Species

Human

Target Name

CCM2

Target Full Name

Cerebral cavernous malformations 2 protein

Target 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. 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.

Target Involvement

Cerebral cavernous malformations 2 (CCM2)

Target Subcellular Location

Cytoplasm.

Target Protein Families

CCM2 family

Target Synonyms

C7orf22; Ccm2; CCM2 gene; CCM2_HUMAN; Cerebral cavernous malformation 2; Cerebral cavernous malformations 2 protein; Chromosome 7 open reading frame 22; Malcavernin; MGC4067; MGC4607; MGC74868; OSM; Osmosensing scaffold for MEKK3; OTTHUMP00000159554; OTTHUMP00000214270; OTTHUMP00000214271; OTTHUMP00000214273; PP10187

Target Background

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.