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

rs1331484727 in CCM2 gene and CEREBRAL CAVERNOUS MALFORMATIONS 2 PMID 14740320 2004 Mutations within the MGC4607 gene cause cerebral cavernous malformations.

PMID 14624391 2003 Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.

PMID 22415356 2012 De novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformations.

PMID 25355838 2014 Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 27792856 2017 Review of familial cerebral cavernous malformations and report of seven additional families.

PMID 23595507 2013 CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.

PMID 24466005 2014 Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.

PMID 15122722 2004 CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations.

rs2107732 in CCM2 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs3735491 in CCM2 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.