Ccm2 Gene Summary [Mouse]
Acts upstream of or within several processes, including circulatory system development; endothelial cell development; and in utero embryonic development. Part of protein-containing complex. Is expressed in several structures, including cardiovascular system; central nervous system; early conceptus; gonad; and retina layer. Used to study cerebral cavernous malformation 2. Human ortholog(s) of this gene implicated in cerebral cavernous malformation 2. Orthologous to human CCM2 (CCM2 scaffold protein). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ccm2 |
| Official Name | cerebral cavernous malformation 2 [Source:MGI Symbol;Acc:MGI:2384924] |
| Ensembl ID | ENSMUSG00000000378 |
| Bio databases IDs | |
| Aliases | cerebral cavernous malformation 2 |
| Synonyms | C7orf22, CCM2 scaffold protein, cerebral cavernous malformation 2, LOC685923, MGC4607, OSM, PP10187 |
| Species | Mouse, Mus musculus |
| 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 mouse 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
phenotypes
- abnormal angiogenesis
- abnormal artery development
- abnormal brain vasculature morphology
- abnormal cardinal vein morphology
- abnormal cardiovascular system morphology
- abnormal cell physiology
- abnormal developmental vascular remodeling
- abnormal dorsal aorta morphology
- abnormal first pharyngeal arch artery morphology
- abnormal first pharyngeal arch morphology
- abnormal heart development
- abnormal heart tube morphology
- abnormal pharyngeal arch artery morphology
- abnormal pharyngeal arch morphology
- abnormal second pharyngeal arch artery morphology
- abnormal second pharyngeal arch morphology
- abnormal third pharyngeal arch artery morphology
- abnormal third pharyngeal arch morphology
- abnormal vascular branching morphogenesis
- abnormal vascular endothelial cell development
- abnormal vascular smooth muscle morphology
- abnormal vasculogenesis
- abnormal vitelline vascular remodeling
- abnormal vitelline vasculature morphology
- aorta stenosis
- decreased angiogenesis
- dilated aortic sac
- dilated dorsal aorta
- embryonic growth retardation
- embryonic lethality during organogenesis complete penetrance
- failure of heart looping
- hemopericardium
- intracranial hemorrhage
- pale yolk sac
- pericardial edema
- poor circulation
- prenatal lethality complete penetrance
- short forehead
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 mouse 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