CCM2 Chromosome 7

CCM2 scaffold protein
98 variants 98 Health Risk

Upload your DNA to see your personal genotypes for variants in CCM2.

What This Gene Does
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]
Gene Info
Gene Group
CCM adhesion complex
Locus Type
gene with protein product
Location
7p13
Ensembl
ENSG00000136280
Associated Conditions (8)
Cerebral cavernous malformation 2
Inborn genetic diseases
Cerebral cavernous malformation
CCM2-related disorder
Cerebral cavernous angioma
Subcutaneous venous lacunae
Malignant tumor of esophagus
Cavernous hemangioma
Key Variants
RS1240228560
Conflicting classifications of pathogenicity
Cerebral cavernous malformation 2, Inborn genetic diseases, Cerebral cavernous malformation 2
Health Risk
RS139366651
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143962510
Conflicting classifications of pathogenicity
Cerebral cavernous malformation 2, Inborn genetic diseases, Cerebral cavernous malformation 2
Health Risk
RS145579135
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cerebral cavernous malformation 2, Inborn genetic diseases
Health Risk
RS150734280
Conflicting classifications of pathogenicity
Cerebral cavernous malformation 2, Inborn genetic diseases, Cerebral cavernous malformation 2
Health Risk
RS1583819255
Conflicting classifications of pathogenicity
Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
Health Risk
RS1583983649
Conflicting classifications of pathogenicity
Cerebral cavernous malformation 2, Cerebral cavernous malformation, Cerebral cavernous malformation 2
Health Risk
RS200358025
Conflicting classifications of pathogenicity
Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
Health Risk
RS201559289
Conflicting classifications of pathogenicity
Cerebral cavernous malformation 2, Inborn genetic diseases, Cerebral cavernous malformation 2
Health Risk
RS370245890
Conflicting classifications of pathogenicity
Cerebral cavernous malformation 2, Inborn genetic diseases, Cerebral cavernous malformation 2
Health Risk
RS372739455
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS376855404
Conflicting classifications of pathogenicity
Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
Health Risk
All Variants (98)
RSID Category Clinical Significance Conditions
RS1562907455 Health Risk Pathogenic —
RS1562913873 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1583901813 Health Risk Pathogenic —
RS1583970495 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1583984070 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1797324598 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1798890807 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1798970889 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1798979994 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2128637642 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2128729105 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2128729110 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2128729172 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2128729177 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2128747319 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2128747325 Health Risk Pathogenic —
RS2128747608 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2128749865 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2128749913 Health Risk Pathogenic —
RS2128749934 Health Risk Pathogenic —
RS2485984746 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2485984791 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2485985621 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2485985882 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486112288 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486112668 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486112694 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486112725 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486113917 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486135403 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486135424 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486144218 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486144482 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486144500 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486144656 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS755800734 Health Risk Pathogenic Cerebral cavernous malformation 2, CCM2-related disorder, Cerebral cavernous malformation 2
RS756276859 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS765548101 Health Risk Pathogenic Cavernous hemangioma, Cerebral cavernous malformation 2, Cavernous hemangioma
RS886041157 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1331484727 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562881980 Health Risk Pathogenic/Likely pathogenic —
RS1562882049 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562912528 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562917629 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562921605 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS745710633 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS767248510 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 2, CCM2-related disorder, Cerebral cavernous malformation 2
RS797044623 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 2, CCM2-related disorder, Cerebral cavernous malformation 2
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