Gene: LOC102723334
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: CCM2
Alternate names for this Gene: C7orf22|OSM|PP10187
Gene 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.
Gene is located in Chromosome: 7
Location in Chromosome : 7p13
Description of this Gene: CCM2 scaffold protein
Type of Gene: protein-coding
rs1562848479 in
LOC102723334;CCM2 gene and
CEREBRAL CAVERNOUS MALFORMATIONS 2
PMID 18300272 2008 Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.
PMID 15122722 2004 CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations.
PMID 17160895 2007 Deletions in CCM2 are a common cause of cerebral cavernous malformations.
PMID 2468908 1988 Verapamil alters the relationship between renal perfusion pressure and glomerular filtration rate and renin release: the mechanism of the antihypertensive effect.
PMID 14624391 2003 Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.
PMID 21543988 2011 A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations.
PMID 23595507 2013 CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.