CCM2 wt Allele

Preferred Label : CCM2 wt Allele;

NCIt synonyms : C7orf22; PP10187; MGC4607; CCM2 Scaffold Protein wt Allele; Cerebral Cavernous Malformation 2 Gene; Osmosensing Scaffold for MEKK3 Gene; CCM2 Scaffolding Protein Gene; Chromosome 7 Open Reading Frame 22 Gene; OSM;

NCIt definition : Human CCM2 wild-type allele is located in the vicinity of 7p13 and is approximately 77 kb in length. This allele, which encodes cerebral cavernous malformations 2 protein, is involved in signal transduction and heart and blood vessel morphogenesis. Mutations in the gene are associated with cerebral cavernous malformations 2.;

GenBank Accession Number : BC004903;

Details

Origin ID

C215351;

OMIM relation
- Ccm2 scaffold protein [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7p13 [NCIt concept]
gene_is_element_in_pathway
- Adherens Junction Assembly Pathway [NCIt concept]
- Regulation of p38-alpha and p38-beta Pathway [NCIt concept]
gene_plays_role_in_process
- Histogenic Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Stress Response Signaling [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients