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Description for Protein CCM2

cerebral cavernous malformation 2
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 1/2)
(phosphoproteome: 1; platelet: 1; undefined: 1)
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. (PubMed Links)
Domains and Motifs:
  • PTB: Phosphotyrosine-binding domain, phosphotyrosine-interaction (PI) domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Chromosome 7 open reading frame 22; Cerebral cavernous malformation 2; MGC4067; C7ORF22; MGC4607; Cerebral cavernous malformation 2 isoform 2; Cerebral cavernous malformation 2 isoform 1; C7orf22; MGC74868; Cerebral cavernous malformations 2 protein
    Approved Symbol:
    CCM2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 10
    Human (de-) phosphorylation sites: 10; Platelet phosphorylation sites: 2
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Cerebral cavernous malformations 2(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 09719 Entrez Gene ID: 83605 OMIM ID: 607929 Swissprot Accession: Q9BSQ5;