Version: 8.0.0
Date: Tue Jan 28 2025
MSH2
Homo sapiensHGNC:7325
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

MSH2

Species
Homo sapiens
Symbol
MSH2
Name
mutS homolog 2
Synonyms
  • COCA1
  • DNA mismatch repair protein Msh2
Biotype
protein coding gene
Automated Description
Enables several functions, including ATP-dependent activity, acting on DNA; chromatin binding activity; and protein homodimerization activity. Contributes to several functions, including DNA binding activity; MutLalpha complex binding activity; and adenyl ribonucleotide binding activity. Involved in several processes, including DNA metabolic process; negative regulation of DNA recombination; and positive regulation of helicase activity. Acts upstream of or within mismatch repair. Located in nucleoplasm. Part of MutSalpha complex and MutSbeta complex. Implicated in several diseases, including Lynch syndrome (multiple); gastrointestinal system cancer (multiple); lung cancer (multiple); mismatch repair cancer syndrome; and transitional cell carcinoma. Biomarker of several diseases, including carcinoma (multiple); cervix uteri carcinoma in situ; colon cancer; osteosarcoma; and prostate cancer.
RGD Description
This locus is 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11361
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          MSH2 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            MSH2 role
            MSH2 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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