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    MSH2 mutS homolog 2 [ Homo sapiens (human) ]

    Gene ID: 4436, updated on 6-Jun-2021

    Summary

    Official Symbol
    MSH2provided by HGNC
    Official Full Name
    mutS homolog 2provided by HGNC
    Primary source
    HGNC:HGNC:7325
    See related
    Ensembl:ENSG00000095002 MIM:609309
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FCC1; COCA1; HNPCC; LCFS2; hMSH2; HNPCC1; MMRCS2
    Summary
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 3.7), testis (RPKM 3.4) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See MSH2 in Genome Data Viewer
    Location:
    2p21-p16.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (47403067..47634501)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (47630206..47710367)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 119 Neighboring gene epithelial cell adhesion molecule Neighboring gene microRNA 559 Neighboring gene potassium two pore domain channel subfamily K member 12 Neighboring gene MSH2 overlapping transcript 1 Neighboring gene ribosomal protein L18a pseudogene 6 Neighboring gene uncharacterized LOC440864 Neighboring gene NME2 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MSH2 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Lynch syndrome
    MedGen: C4552100 GeneReviews: Lynch Syndrome
    Compare labs
    Lynch syndrome I
    MedGen: C2936783 OMIM: 120435 GeneReviews: Lynch Syndrome
    Compare labs
    Mismatch repair cancer syndrome 2
    MedGen: CN296220 OMIM: 619096 GeneReviews: Not available
    not available
    Muir-Torre syndrome
    MedGen: C1321489 OMIM: 158320 GeneReviews: Lynch Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2015-07-09)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2015-07-09)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with mutS homolog 2, colon cancer, nonpolyposis type 1 (MSH2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to ADP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to ATPase IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATPase, acting on DNA IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to MutLalpha complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to MutLalpha complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables centromeric DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to dinucleotide insertion or deletion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to dinucleotide repeat insertion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to dinucleotide repeat insertion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables double-strand/single-strand DNA junction binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to four-way junction DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to four-way junction DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to guanine/thymine mispair binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to guanine/thymine mispair binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables guanine/thymine mispair binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    contributes_to magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to mismatched DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to mismatched DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to oxidized purine DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to oxidized purine DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to single guanine insertion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to single guanine insertion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to single thymine insertion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to single thymine insertion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in B cell mediated immunity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in DNA recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in determination of adult lifespan IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in double-strand break repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in germ cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in isotype switching ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in maintenance of DNA repeat elements IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in maintenance of DNA repeat elements IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in male gonad development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within mismatch repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mismatch repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within mismatch repair IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in mismatch repair TAS
    Traceable Author Statement
    more info
     
    involved_in mitotic intra-S DNA damage checkpoint signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of DNA recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in oxidative phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of isotype switching to IgA isotypes IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of isotype switching to IgG isotypes IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in postreplication repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in postreplication repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein localization to chromatin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to UV-B ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to X-ray ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in somatic hypermutation of immunoglobulin genes IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in somatic recombination of immunoglobulin gene segments ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in somatic recombination of immunoglobulin genes involved in immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of MutSalpha complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of MutSalpha complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of MutSbeta complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of MutSbeta complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome, telomeric region HDA PubMed 
    located_in membrane HDA PubMed 
    part_of mismatch repair complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    DNA mismatch repair protein Msh2
    Names
    DNA mismatch repair protein Msh2 transcript
    mutS homolog 2, colon cancer, nonpolyposis type 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007110.2 RefSeqGene

      Range
      4944..85105
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_218

    mRNA and Protein(s)

    1. NM_000251.3NP_000242.1  DNA mismatch repair protein Msh2 isoform 1

      See identical proteins and their annotated locations for NP_000242.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK304496, CB250419, U04045
      Consensus CDS
      CCDS1834.1
      UniProtKB/Swiss-Prot
      P43246
      Related
      ENSP00000233146.2, ENST00000233146.7
      Conserved Domains (1) summary
      COG0249
      Location:23853
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
    2. NM_001258281.1NP_001245210.1  DNA mismatch repair protein Msh2 isoform 2

      See identical proteins and their annotated locations for NP_001245210.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate segment of the first exon, including the translation start site, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK304496, CB250419, DC342099
      Consensus CDS
      CCDS58709.1
      UniProtKB/Swiss-Prot
      P43246
      Related
      ENSP00000442697.1, ENST00000543555.6
      Conserved Domains (2) summary
      COG0249
      Location:58787
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
      pfam01624
      Location:566
      MutS_I; MutS domain I

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      47403067..47634501
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532867.2XP_011531169.1  DNA mismatch repair protein Msh2 isoform X2

      See identical proteins and their annotated locations for XP_011531169.1

      Related
      ENSP00000495455.1, ENST00000645506.1
      Conserved Domains (6) summary
      cd03285
      Location:633852
      ABC_MSH2_euk; ATP-binding cassette domain of eukaryotic MutS2 homolog
      COG0249
      Location:23853
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
      pfam01624
      Location:18132
      MutS_I; MutS domain I
      pfam05188
      Location:158284
      MutS_II; MutS domain II
      pfam05190
      Location:473569
      MutS_IV; MutS family domain IV
      pfam05192
      Location:305423
      MutS_III; MutS domain III
    2. XM_005264332.4XP_005264389.2  DNA mismatch repair protein Msh2 isoform X1

      Conserved Domains (6) summary
      cd03285
      Location:633852
      ABC_MSH2_euk; ATP-binding cassette domain of eukaryotic MutS2 homolog
      COG0249
      Location:23853
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
      pfam01624
      Location:18132
      MutS_I; MutS domain I
      pfam05188
      Location:158284
      MutS_II; MutS domain II
      pfam05190
      Location:473569
      MutS_IV; MutS family domain IV
      pfam05192
      Location:305423
      MutS_III; MutS domain III

    RNA

    1. XR_001738747.2 RNA Sequence

      Related
      ENST00000646415.1
    2. XR_939685.2 RNA Sequence

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