CCM2 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | CCM2 |
| Official Name | CCM2 scaffold protein [Source:HGNC Symbol;Acc:HGNC:21708] |
| Ensembl ID | ENSG00000136280 |
| Bio databases IDs | |
| Aliases | CCM2 scaffold protein, malcavernin, osmosensing scaffold for MEKK3 |
| Synonyms | C7orf22, CCM2 scaffold protein, cerebral cavernous malformation 2, LOC685923, MGC4607, OSM, PP10187 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CCM2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- harmonin_N_like
- protein binding
- phosphotyrosine binding domain
- Pleckstrin homology-like domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- edema
- cerebral cavernous malformations 2
- cerebral cavernous malformation
- chronic periodontal disease
- myocardial infarction
- coronary artery disease
- failure of heart looping
- stenosis
- familial cerebral cavernous malformation
role in cell
- expression in
- binding in
- phosphorylation in
- formation
- formation in
- degradation in
- destabilization in
- morphology
- organization
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CCM2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organism growth
- inner ear development
- endothelial tube morphogenesis
- venous blood vessel morphogenesis
- regulation of angiogenesis
- vasculogenesis
- cell-cell junction organization
- pericardium development
- endothelium development
- heart development
- integrin-mediated signaling pathway
- endothelial cell development
- blood vessel endothelial cell differentiation
- in utero embryonic development
- stress-activated MAPK cascade
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- mitochondrion
- macromolecular complex
Molecular Function
What the gene product does at the molecular level
- protein binding