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Description for Protein MSH2

mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
33 total interacting proteins; 8 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
MSH2 was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • MUTSd: DNA-binding domain of DNA mismatch repair MUTS family
  • CC: Coiled Coil
  • MUTSac: ATPase domain of DNA mismatch repair MUTS family

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K08735
    KEGG - Pathway(s):
    hsa03430; hsa05200; hsa05210
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    MutS; DNA mismatch repair protein Msh2; FCC1; COCA1; HNPCC1; HNPCC
    Approved Symbol:
    MSH2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 7
    Human (de-) phosphorylation sites: 7; No platelet phosphorylation sites

    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:

  • Colorectal cancer, hereditary nonpolyposis, type 1(Pd);
  • Colorectal cancer, hereditary, nonpolyposis, type 1(Pd);
  • Glioblastoma, early-onset(Pd);
  • MSH2 polymorphism(Pd);
  • Muir-torre syndrome(Pd);
  • Neurofibromatosis, type I, with leukemia(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 00389 Entrez Gene ID: 4436 OMIM ID: 609309 Swissprot Accession: P43246