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
RS1240228560 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation 2, Inborn genetic diseases, Cerebral cavernous malformation 2
RS139366651 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143962510 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation 2, Inborn genetic diseases, Cerebral cavernous malformation 2
RS145579135 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cerebral cavernous malformation 2, Inborn genetic diseases
RS150734280 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation 2, Inborn genetic diseases, Cerebral cavernous malformation 2
RS1583819255 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1583983649 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation 2, Cerebral cavernous malformation, Cerebral cavernous malformation 2
RS200358025 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS201559289 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation 2, Inborn genetic diseases, Cerebral cavernous malformation 2
RS370245890 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation 2, Inborn genetic diseases, Cerebral cavernous malformation 2
RS372739455 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376855404 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS750632206 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cerebral cavernous malformation 2, Inborn genetic diseases
RS1204653825 Health Risk Likely pathogenic —
RS1350848319 Health Risk Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1554365507 Health Risk Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1554377652 Health Risk Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562881859 Health Risk Likely pathogenic —
RS1562907331 Health Risk Likely pathogenic —
RS1562912426 Health Risk Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562912441 Health Risk Likely pathogenic CCM2-related disorder, CCM2-related disorder
RS1795541254 Health Risk Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1797327591 Health Risk Likely pathogenic Cerebral cavernous angioma, Subcutaneous venous lacunae, Cerebral cavernous angioma
RS2128747719 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2128749827 Health Risk Likely pathogenic —
RS2485984699 Health Risk Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486113704 Health Risk Likely pathogenic CCM2-related disorder, CCM2-related disorder
RS2486170351 Health Risk Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486175038 Health Risk Likely pathogenic Cerebral cavernous malformation 2, Malignant tumor of esophagus, Cerebral cavernous malformation 2
RS2486183218 Health Risk Likely pathogenic —
RS759104121 Health Risk Likely pathogenic Cerebral cavernous malformation 2, Inborn genetic diseases, CCM2-related disorder
RS773187380 Health Risk Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1057520070 Health Risk Pathogenic —
RS1131691312 Health Risk Pathogenic —
RS1131691538 Health Risk Pathogenic —
RS1259805013 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS137852841 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS137852842 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS137852843 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1437280900 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1554365511 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1554365577 Health Risk Pathogenic —
RS1554375233 Health Risk Pathogenic —
RS1562848466 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562848479 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562881854 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562882045 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562906798 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562906981 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1562907365 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
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