help  | about  | cite  | software

Gene : CCM2 Homo sapiens

Name  ? CCM2 scaffold protein Cytological Location  7p13
Brief Description  CCM2 scaffold protein
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.[provided by RefSeq, Nov 2009]
  • synonyms:
  • CCM2 scaffolding protein,
  • CCM2,
  • PP10187,
  • OTTHUMG00000129246,
  • MGC4607,
  • cerebral cavernous malformation 2,
  • uc003tmo.4,
  • HGNC:21708,
  • NM_031443,
  • osmosensing scaffold for MEKK3,
  • OSM,
  • malcavernin,
  • C7orf22,
  • chromosome 7 open reading frame 22,
  • OSM,
  • BC004903,
  • C7orf22
  • identifiers:
  • 83605,
  • ENSG00000136280,
  • CCM2

Genome feature

Region: gene ? Length: 76725  
Location: 7:44999746-45076470 Cyto location: 7p13


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results