NM_001167934.1
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
cerebral cavernous malformations 2 protein isoform 3
NCBI Official Synonym Full Names
CCM2 scaffolding protein
NCBI Protein Information
cerebral cavernous malformations 2 protein
UniProt Protein Name
Cerebral cavernous malformations 2 protein
UniProt Synonym Protein Names
Malcavernin
UniProt Synonym Gene Names
UniProt Entry Name
CCM2_HUMAN
NCBI Summary for CCM2
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]
UniProt Comments for CCM2
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 ().
Research Articles on CCM2
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Products associated with anti-CCM2 antibody
Pathways associated with anti-CCM2 antibody
Diseases associated with anti-CCM2 antibody
Organs/Tissues associated with anti-CCM2 antibody
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