CCM2
Gene Information
- Official Symbol: CCM2
- Official Name: CCM2 scaffold protein
- Aliases and Previous Symbols: N/A
- Entrez ID: 83605
- UniProt: Q9BSQ5
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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.[provided by RefSeq, Nov 2009].
- UniProt Summary: N/A
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 6942
- Expression level (log2 read counts): 4.64