QuickView for CCM2 (gene)

Gene Symbol:

CCM2 Homo sapiens

Full name:

CCM2 scaffolding protein

Synonyms:

C7orf22, OSM, PP10187, cerebral cavernous malformations 2 protein, cerebral cavernous malformation 2, malcavernin, osmosensing scaffold for MEKK3

Genomic Location:

Chr 7: 45006312-45082594

Description:

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 str...

View Full Description

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.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Danio rerio ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TTTGCAC_MIR19A_MIR19B ,  GATA1_03 ,  CTACTGT_MIR199A ,  ACTGTGA_MIR27A_MIR27B ,  WTGAAAT_UNKNOWN ,  RGAANNTTC_HSF1_01 ,  CAGGTG_E12_Q6 ,  HSF1_01

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-128 ,  Predicted Gene Targets for miR-19 ,  Predicted Gene Targets for miR-205 ,  Predicted Gene Targets for miR-23 ,  Predicted Gene Targets for miR-27

Cytogenetic Map:

7p13

search → result