| Entrez gene ID | | 83605 |
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| Official gene symbol | | CCM2 |
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| Full name | | cerebral cavernous malformation 2 |
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| Aliases | | ,C7orf22,MGC4067,MGC4607,MGC74868,OSM,PP10187, |
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| 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. |
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| Location | | Chromosome: 7 Locus: 7p13 |
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| Gene position | | 45039345 - 45116069 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 76725 bp |
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| Gene sequence |
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| OMIM ID | | 607929 |
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