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    MSH2 mutS homolog 2 [ Homo sapiens (human) ]

    Gene ID: 4436, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MSH2provided by HGNC
    Official Full Name
    mutS homolog 2provided by HGNC
    Primary source
    HGNC:HGNC:7325
    See related
    Ensembl:ENSG00000095002 MIM:609309; AllianceGenome:HGNC:7325
    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; MSH-2; hMSH2; HNPCC1; LYNCH1; 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
    mouse all
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    Genomic context

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    See MSH2 in Genome Data Viewer
    Location:
    2p21-p16.3
    Exon count:
    46
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (47403067..47709830)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (47408101..47714827)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (47630206..47936969)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47596083-47596759 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47596760-47597435 Neighboring gene RN7SK pseudogene 119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15732 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:47630036-47630746 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47630747-47631455 Neighboring gene epithelial cell adhesion molecule Neighboring gene microRNA 559 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47653397-47653896 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47699841-47700005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47761774-47762289 Neighboring gene potassium two pore domain channel subfamily K member 12 Neighboring gene MSH2 overlapping transcript 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47796495-47797364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47798518-47799048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47799049-47799577 Neighboring gene Sharpr-MPRA regulatory region 1309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15736 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47891127-47891628 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47891629-47892128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47918101-47918767 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47921671-47922214 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11466 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47923304-47923848 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47923849-47924392 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:47925482-47926026 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47928206-47928749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15737 Neighboring gene ribosomal protein L18a pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15738 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:47948619-47949424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15739 Neighboring gene NME2 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47975285-47975438 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15740 Neighboring gene uncharacterized LOC105374589 Neighboring gene RBIS pseudogene 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The DNA-mismatch repair enzyme hMSH2 modulates UV-B-induced cell cycle arrest and apoptosis in melanoma cells. Seifert M, et al. J Invest Dermatol, 2008 Jan. PMID 17611581
    2. A missense germline mutation in exon 7 of the MSH2 gene in a HNPCC family from center-Italy. Bianchi F, et al. Fam Cancer, 2007. PMID 17165155
    3. Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC. Stella A, et al. Clin Genet, 2007 Feb. PMID 17250661
    4. A novel MSH2 mutation in a Chinese family with hereditary non-polyposis colorectal cancer. Zheng D, et al. Int J Colorectal Dis, 2007 Aug. PMID 17333219
    5. Overexpression of MutSα Complex Proteins Predicts Poor Prognosis in Oral Squamous Cell Carcinoma. Wagner VP, et al. Medicine (Baltimore), 2016 May. PMID 27258499, Free PMC Article

    See all (926) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Assessing the role of MSH2 and MSH6 gene expression deficiency in prostate cancer progression, a cross-sectional study.
      Title: Assessing the role of MSH2 and MSH6 gene expression deficiency in prostate cancer progression, a cross-sectional study.
    2. LINC01232 targeting miR-1250-3p/MSH2 axis attenuates mesangial cell proliferation and fibrosis in diabetic nephropathy.
      Title: LINC01232 targeting miR-1250-3p/MSH2 axis attenuates mesangial cell proliferation and fibrosis in diabetic nephropathy.
    3. Novel MSH2 and TSC2 variants in a Chinese family with Lynch syndrome and their synergistic impact in urothelial carcinoma.
      Title: Novel MSH2 and TSC2 variants in a Chinese family with Lynch syndrome and their synergistic impact in urothelial carcinoma.
    4. Rare single-nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome.
      Title: Rare single-nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome.
    5. Role of MLH1 and MSH2 deficiency in the development of tumorigenesis and chemo-tolerance of cervical Carcinoma: Clinical implications.
      Title: Role of MLH1 and MSH2 deficiency in the development of tumorigenesis and chemo-tolerance of cervical Carcinoma: Clinical implications.
    6. Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as potential cancer-predisposing genes in familial early-onset colorectal cancer.
      Title: Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as potential cancer-predisposing genes in familial early-onset colorectal cancer.
    7. MiR-590-5p promotes cisplatin resistance via targeting hMSH2 in ovarian cancer.
      Title: MiR-590-5p promotes cisplatin resistance via targeting hMSH2 in ovarian cancer.
    8. MSH2-MSH3 promotes DNA end resection during homologous recombination and blocks polymerase theta-mediated end-joining through interaction with SMARCAD1 and EXO1.
      Title: MSH2-MSH3 promotes DNA end resection during homologous recombination and blocks polymerase theta-mediated end-joining through interaction with SMARCAD1 and EXO1.
    9. MSH2 is the very young onset ovarian cancer predisposition gene, not BRCA1.
      Title: MSH2 is the very young onset ovarian cancer predisposition gene, not BRCA1.
    10. Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations.
      Title: Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations.
    Submit: New GeneRIF Correction See all GeneRIFs (538)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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 1
    MedGen: C2936783 OMIM: 120435 GeneReviews: Lynch Syndrome
    		Compare labs
    Mismatch repair cancer syndrome 2
    MedGen: C5436806 OMIM: 619096 GeneReviews: Not available
    		Compare labs
    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 2021-10-13)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-10-13)

    ClinGen Genome Curation PagePubMed

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent DNA damage sensor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent activity, acting on DNA IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA binding IDA
    Inferred from Direct Assay
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to four-way junction DNA binding IDA
    Inferred from Direct Assay
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to oxidized purine DNA binding IDA
    Inferred from Direct Assay
    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 
    contributes_to single guanine insertion binding IDA
    Inferred from Direct Assay
    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 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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in isotype switching ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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
    		  
    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 mitotic intra-S DNA damage checkpoint signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 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
    		  
    Component Evidence Code Pubs
    part_of MutSalpha complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MutSalpha complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of MutSalpha complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of MutSbeta complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of MutSbeta complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in chromosome, telomeric region HDA PubMed 
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_000251.3 → NP_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
      B4E2Z2, O75488, P43246
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1
      Related
      ENSP00000233146.2, ENST00000233146.7
      Conserved Domains (1) summary
      COG0249
      Location:23 → 853
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    2. NM_001258281.1 → NP_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/TrEMBL
      Q53FK0, Q53GS1
      Related
      ENSP00000442697.1, ENST00000543555.6
      Conserved Domains (2) summary
      COG0249
      Location:58 → 787
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
      pfam01624
      Location:5 → 66
      MutS_I; MutS domain I

    3. NM_001406631.1 → NP_001393560.1  DNA mismatch repair protein Msh2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1

    4. NM_001406632.1 → NP_001393561.1  DNA mismatch repair protein Msh2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1

    5. NM_001406633.1 → NP_001393562.1  DNA mismatch repair protein Msh2 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1

    6. NM_001406634.1 → NP_001393563.1  DNA mismatch repair protein Msh2 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1

    7. NM_001406635.1 → NP_001393564.1  DNA mismatch repair protein Msh2 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1

    8. NM_001406636.1 → NP_001393565.1  DNA mismatch repair protein Msh2 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1

    9. NM_001406637.1 → NP_001393566.1  DNA mismatch repair protein Msh2 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC006509, AC079775, AC138655
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1

    10. NM_001406638.1 → NP_001393567.1  DNA mismatch repair protein Msh2 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1

    11. NM_001406639.1 → NP_001393568.1  DNA mismatch repair protein Msh2 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1

    12. NM_001406640.1 → NP_001393569.1  DNA mismatch repair protein Msh2 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1

    13. NM_001406641.1 → NP_001393570.1  DNA mismatch repair protein Msh2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655
      UniProtKB/Swiss-Prot
      B4E2Z2, O75488, P43246
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1

    14. NM_001406642.1 → NP_001393571.1  DNA mismatch repair protein Msh2 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1

    15. NM_001406643.1 → NP_001393572.1  DNA mismatch repair protein Msh2 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1

    16. NM_001406644.1 → NP_001393573.1  DNA mismatch repair protein Msh2 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655
      Consensus CDS
      CCDS92750.1
      UniProtKB/TrEMBL
      A0A2R8Y6P0, Q53FK0, Q53GS1
      Related
      ENSP00000495455.1, ENST00000645506.1

    17. NM_001406645.1 → NP_001393574.1  DNA mismatch repair protein Msh2 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655
      UniProtKB/TrEMBL
      E9PHA6, Q53FK0, Q53GS1
      Related
      ENSP00000384199.1, ENST00000406134.5

    18. NM_001406646.1 → NP_001393575.1  DNA mismatch repair protein Msh2 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655
      UniProtKB/TrEMBL
      A0A2R8YFH0, Q53FK0, Q53GS1
      Related
      ENSP00000496441.1, ENST00000645339.1

    19. NM_001406647.1 → NP_001393576.1  DNA mismatch repair protein Msh2 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1

    20. NM_001406648.1 → NP_001393577.1  DNA mismatch repair protein Msh2 isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655
      UniProtKB/TrEMBL
      A0A2R8Y713, Q53FK0, Q53GS1
      Related
      ENSP00000495641.2, ENST00000644900.2

    21. NM_001406649.1 → NP_001393578.1  DNA mismatch repair protein Msh2 isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655
      UniProtKB/TrEMBL
      A0AAQ5BH31, Q53FK0, Q53GS1

    22. NM_001406650.1 → NP_001393579.1  DNA mismatch repair protein Msh2 isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655
      UniProtKB/TrEMBL
      A0AAQ5BH31, Q53FK0, Q53GS1
      Related
      ENSP00000519159.1, ENST00000713854.1

    23. NM_001406651.1 → NP_001393580.1  DNA mismatch repair protein Msh2 isoform 20

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1

    24. NM_001406652.1 → NP_001393581.1  DNA mismatch repair protein Msh2 isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1

    25. NM_001406653.1 → NP_001393582.1  DNA mismatch repair protein Msh2 isoform 22

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1

    26. NM_001406654.1 → NP_001393583.1  DNA mismatch repair protein Msh2 isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1

    27. NM_001406655.1 → NP_001393584.1  DNA mismatch repair protein Msh2 isoform 24

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655
      UniProtKB/TrEMBL
      Q53RU4

    28. NM_001406656.1 → NP_001393585.1  DNA mismatch repair protein Msh2 isoform 25

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655
      UniProtKB/TrEMBL
      B4DL39, E9PBP1

    29. NM_001406657.1 → NP_001393586.1  DNA mismatch repair protein Msh2 isoform 26

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655
      UniProtKB/TrEMBL
      A0A2R8Y7S8
      Related
      ENSP00000496351.1, ENST00000644092.1

    30. NM_001406658.1 → NP_001393587.1  DNA mismatch repair protein Msh2 isoform 27

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655

    31. NM_001406659.1 → NP_001393588.1  DNA mismatch repair protein Msh2 isoform 27

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655

    32. NM_001406660.1 → NP_001393589.1  DNA mismatch repair protein Msh2 isoform 27

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655

    33. NM_001406661.1 → NP_001393590.1  DNA mismatch repair protein Msh2 isoform 27

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655

    34. NM_001406662.1 → NP_001393591.1  DNA mismatch repair protein Msh2 isoform 27

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655

    35. NM_001406666.1 → NP_001393595.1  DNA mismatch repair protein Msh2 isoform 28

      Status: REVIEWED

      Source sequence(s)
      AC079775
      UniProtKB/TrEMBL
      V9H023
      Related
      ENSP00000519166.1, ENST00000713861.1

    36. NM_001406669.1 → NP_001393598.1  DNA mismatch repair protein Msh2 isoform 29

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655

    37. NM_001406672.1 → NP_001393601.1  DNA mismatch repair protein Msh2 isoform 30

      Status: REVIEWED

      Source sequence(s)
      AC079775
      UniProtKB/TrEMBL
      V9H023

    38. NM_001406674.1 → NP_001393603.1  DNA mismatch repair protein Msh2 isoform 31

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655
      UniProtKB/TrEMBL
      Q53FK0, Q53GS1

    RNA

    1. NR_176230.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655

    2. NR_176231.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655

    3. NR_176232.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655

    4. NR_176233.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655

    5. NR_176234.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655

    6. NR_176235.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655

    7. NR_176236.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655

    8. NR_176237.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655

    9. NR_176238.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655

    10. NR_176239.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655

    11. NR_176240.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655

    12. NR_176241.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655

    13. NR_176242.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655

    14. NR_176243.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655

    15. NR_176244.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655

    16. NR_176245.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655

    17. NR_176246.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655

    18. NR_176247.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655

    19. NR_176248.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079250, AC079775, AC138655

    20. NR_176249.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655

    21. NR_176250.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC079775, AC138655

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      47403067..47709830
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444416.1 → XP_047300372.1  DNA mismatch repair protein Msh2 isoform X1

      UniProtKB/TrEMBL
      A0A2R8YG02, Q53FK0, Q53GS1
      Related
      ENSP00000495543.1, ENST00000646415.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      47408101..47714827
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43246.1 GenPept UniProtKB/Swiss-Prot:P43246

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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