CCM2 (CCM2 scaffold protein)

2009-11-01  

Identity

HGNC
LOCATION
7p13
LOCUSID
ALIAS
C7orf22,OSM,PP10187
FUSION GENES

Other Information

Locus ID:

NCBI: 83605
MIM: 607929
HGNC: 21708
Ensembl: ENSG00000136280

Variants:

dbSNP: 83605
ClinVar: 83605
TCGA: ENSG00000136280
COSMIC: CCM2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136280ENST00000258781Q9BSQ5
ENSG00000136280ENST00000381112Q9BSQ5
ENSG00000136280ENST00000474617C9JUH3
ENSG00000136280ENST00000475551A0A0A0MT72
ENSG00000136280ENST00000480382H7C516
ENSG00000136280ENST00000488727E9PEC4
ENSG00000136280ENST00000541586Q9BSQ5
ENSG00000136280ENST00000544363Q9BSQ5
ENSG00000136280ENST00000648329A0A3B3IRS0

Expression (GTEx)

0
10
20
30
40
50
60
70

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
191517282009The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases.146
203083632010Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity.129
146243912003Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.96
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
190881232009Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.83
190881242009A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells.69
176575162007CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations.68
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
183002722008Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.40
193183502009Cerebral cavernous malformation 2 protein promotes smad ubiquitin regulatory factor 1-mediated RhoA degradation in endothelial cells.38

Citation

Dessen P

CCM2 (CCM2 scaffold protein)

Atlas Genet Cytogenet Oncol Haematol. 2009-11-01

Online version: http://atlasgeneticsoncology.org/gene/51185/ccm2