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    MSH6 mutS homolog 6 [ Homo sapiens (human) ]

    Gene ID: 2956, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MSH6provided by HGNC
    Official Full Name
    mutS homolog 6provided by HGNC
    Primary source
    HGNC:HGNC:7329
    See related
    Ensembl:ENSG00000116062 MIM:600678; AllianceGenome:HGNC:7329
    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
    GTBP; HSAP; p160; GTMBP; MSH-6; HNPCC5; LYNCH5; MMRCS3
    Summary
    This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in ovary (RPKM 15.4), testis (RPKM 14.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MSH6 in Genome Data Viewer
    Location:
    2p16.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (47783145..47810101)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (47789083..47816050)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (48010284..48037240)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RBIS pseudogene 5 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 ReSE screen-validated silencer GRCh37_chr2:48008525-48008706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15741 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11469 Neighboring gene ribosomal protein L36a pseudogene 15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15743 Neighboring gene F-box protein 11 Neighboring gene Sharpr-MPRA regulatory region 9679 Neighboring gene RPS27A pseudogene 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:48129098-48129367 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:48131440-48132226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11470 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11471 Neighboring gene uncharacterized LOC100506235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11473 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:48133799-48134583

    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 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. MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. Talseth-Palmer BA, et al. Hered Cancer Clin Pract, 2010 May 21. PMID 20487569, Free PMC Article
    2. MSH6 gene pathogenic variant identified in familial pancreatic cancer in the absence of colon cancer. Mannucci A, et al. Eur J Gastroenterol Hepatol, 2020 Mar. PMID 31851094
    3. Thirty-nine-year-old with familial colon cancer, and variant of undetermined significance in MSH6. Adonizio C, et al. Semin Oncol, 2012 Apr. PMID 22484182
    4. Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome. Drost M, et al. Genet Med, 2020 May. PMID 31965077, Free PMC Article
    5. Human MSH6 deficiency is associated with impaired antibody maturation. Gardès P, et al. J Immunol, 2012 Feb 15. PMID 22250089

    See all (524) 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. Assessing the impact of MSH3 and MSH6 polymorphisms on lung cancer risk in North Indian patients undergoing platinum chemotherapy through molecular dynamics simulation.
      Title: Assessing the impact of MSH3 and MSH6 polymorphisms on lung cancer risk in North Indian patients undergoing platinum chemotherapy through molecular dynamics simulation.
    3. Attenuated adenomatous polyposis with MSH6 variation: Two case reports.
      Title: Attenuated adenomatous polyposis with MSH6 variation: Two case reports.
    4. TDP43 interacts with MLH1 and MSH6 proteins in a DNA damage-inducible manner.
      Title: TDP43 interacts with MLH1 and MSH6 proteins in a DNA damage-inducible manner.
    5. Mismatch repair gene MSH6 correlates with the prognosis, immune status and immune checkpoint inhibitors response of endometrial cancer.
      Title: Mismatch repair gene MSH6 correlates with the prognosis, immune status and immune checkpoint inhibitors response of endometrial cancer.
    6. Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.
      Title: Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.
    7. Molecular Profile of MSH6-Associated Colorectal Carcinomas Shows Distinct Features From Other Lynch Syndrome-Associated Colorectal Carcinomas.
      Title: Molecular Profile of MSH6-Associated Colorectal Carcinomas Shows Distinct Features From Other Lynch Syndrome-Associated Colorectal Carcinomas.
    8. Structural, functional analysis and association of MSH6 rs1800932, rs1042821 polymorphisms with clinical outcome in North Indian lung cancer patients treated with platinum-based doublet chemotherapy.
      Title: Structural, functional analysis and association of MSH6 rs1800932, rs1042821 polymorphisms with clinical outcome in North Indian lung cancer patients treated with platinum-based doublet chemotherapy.
    9. Novel MSH6 mutation predicted metastasis in eyelid and periocular squamous cell carcinoma.
      Title: Novel MSH6 mutation predicted metastasis in eyelid and periocular squamous cell carcinoma.
    10. Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study.
      Title: Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study.
    Submit: New GeneRIF Correction See all GeneRIFs (237)

    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 MSH6 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Endometrial carcinoma
    MedGen: C0476089 OMIM: 608089 GeneReviews: Not available
    		not available
    Lynch syndrome
    MedGen: C4552100 GeneReviews: Lynch Syndrome
    		not available
    Lynch syndrome 5
    MedGen: C1833477 OMIM: 614350 GeneReviews: Not available
    		not available
    Mismatch repair cancer syndrome 3
    MedGen: C5436807 OMIM: 619097 GeneReviews: Not available
    		not available

    Copy number response

    Description
    Copy number response
    Haploinsufficency

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

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-10-13)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Genome-wide association study of smoking behaviours in patients with COPD.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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-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 
    contributes_to MutLalpha complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to guanine/thymine mispair binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables methylated histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables mismatched DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to mismatched DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 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 
    NOT enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    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 
    Process Evidence Code Pubs
    involved_in DNA repair IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in determination of adult lifespan ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intrinsic apoptotic signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in isotype switching ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT involved_in maintenance of DNA repeat elements IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in meiotic mismatch repair ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of DNA recombination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of helicase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to UV ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in somatic hypermutation of immunoglobulin genes ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in somatic recombination of immunoglobulin gene segments ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    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 
    located_in chromatin IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    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 Msh6
    Names
    G/T mismatch-binding protein
    mutS protein homolog 6
    mutS-alpha 160 kDa subunit
    mutS-like protein 6
    sperm-associated protein

    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_007111.1 RefSeqGene

      Range
      4936..28807
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_219

    mRNA and Protein(s)

    1. NM_000179.3 → NP_000170.1  DNA mismatch repair protein Msh6 isoform 1

      See identical proteins and their annotated locations for NP_000170.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      BC071594, U54777
      Consensus CDS
      CCDS1836.1
      UniProtKB/Swiss-Prot
      B4DF41, B4E3I4, F5H2F9, O43706, O43917, P52701, Q8TCX4, Q9BTB5
      UniProtKB/TrEMBL
      A0A8V8TQJ0
      Related
      ENSP00000234420.5, ENST00000234420.11
      Conserved Domains (7) summary
      cd05837
      Location:88 → 195
      MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
      COG0249
      Location:407 → 1336
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
      pfam01624
      Location:407 → 525
      MutS_I; MutS domain I
      pfam05188
      Location:538 → 692
      MutS_II; MutS domain II
      pfam05190
      Location:932 → 1024
      MutS_IV; MutS family domain IV
      pfam05192
      Location:739 → 827
      MutS_III; MutS domain III
      cl21455
      Location:1091 → 1313
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_001281492.2 → NP_001268421.1  DNA mismatch repair protein Msh6 isoform 2

      See identical proteins and their annotated locations for NP_001268421.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and lacks two exons in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AK293921, BC071594
      Consensus CDS
      CCDS62906.1
      UniProtKB/TrEMBL
      A0A8V8TQJ0
      Related
      ENSP00000446475.1, ENST00000540021.6
      Conserved Domains (6) summary
      COG0249
      Location:277 → 1206
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
      pfam01624
      Location:277 → 395
      MutS_I; MutS domain I
      pfam05188
      Location:408 → 562
      MutS_II; MutS domain II
      pfam05190
      Location:802 → 894
      MutS_IV; MutS family domain IV
      pfam05192
      Location:609 → 697
      MutS_III; MutS domain III
      cl21455
      Location:961 → 1183
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. NM_001281493.2 → NP_001268422.1  DNA mismatch repair protein Msh6 isoform 3

      See identical proteins and their annotated locations for NP_001268422.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon and initiates translation at a downstream start codon compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-terminus compared to isoform 1. Variants 3 and 4 encode the same protein (isoform 3).
      Source sequence(s)
      AC006509, BC071594
      Conserved Domains (6) summary
      COG0249
      Location:105 → 1034
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
      pfam01624
      Location:105 → 223
      MutS_I; MutS domain I
      pfam05188
      Location:236 → 390
      MutS_II; MutS domain II
      pfam05190
      Location:630 → 722
      MutS_IV; MutS family domain IV
      pfam05192
      Location:437 → 525
      MutS_III; MutS domain III
      cl21455
      Location:789 → 1011
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    4. NM_001281494.2 → NP_001268423.1  DNA mismatch repair protein Msh6 isoform 3

      See identical proteins and their annotated locations for NP_001268423.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a dowstream start codon compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus compared to isoform 1. Variants 3 and 4 encode the same protein (isoform 3).
      Source sequence(s)
      AC006509, AK304735, BC071594
      Conserved Domains (6) summary
      COG0249
      Location:105 → 1034
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
      pfam01624
      Location:105 → 223
      MutS_I; MutS domain I
      pfam05188
      Location:236 → 390
      MutS_II; MutS domain II
      pfam05190
      Location:630 → 722
      MutS_IV; MutS family domain IV
      pfam05192
      Location:437 → 525
      MutS_III; MutS domain III
      cl21455
      Location:789 → 1011
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    5. NM_001406795.1 → NP_001393724.1  DNA mismatch repair protein Msh6 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC006509

    6. NM_001406796.1 → NP_001393725.1  DNA mismatch repair protein Msh6 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC006509
      UniProtKB/Swiss-Prot
      B4DF41, B4E3I4, F5H2F9, O43706, O43917, P52701, Q8TCX4, Q9BTB5

    7. NM_001406797.1 → NP_001393726.1  DNA mismatch repair protein Msh6 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC006509
      UniProtKB/TrEMBL
      A0A494C0M1, C9J7Y7, C9J8Y8, C9JH55
      Related
      ENSP00000501310.1, ENST00000673637.1

    8. NM_001406798.1 → NP_001393727.1  DNA mismatch repair protein Msh6 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC006509
      Related
      ENSP00000514752.2, ENST00000700004.2

    9. NM_001406799.1 → NP_001393728.1  DNA mismatch repair protein Msh6 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC006509

    10. NM_001406800.1 → NP_001393729.1  DNA mismatch repair protein Msh6 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC006509

    11. NM_001406801.1 → NP_001393730.1  DNA mismatch repair protein Msh6 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC006509

    12. NM_001406802.1 → NP_001393731.1  DNA mismatch repair protein Msh6 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC006509

    13. NM_001406803.1 → NP_001393732.1  DNA mismatch repair protein Msh6 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC006509

    14. NM_001406804.1 → NP_001393733.1  DNA mismatch repair protein Msh6 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC006509

    15. NM_001406805.1 → NP_001393734.1  DNA mismatch repair protein Msh6 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC006509
      UniProtKB/TrEMBL
      A0A494C0M1, C9J7Y7, C9J8Y8, C9JH55

    16. NM_001406806.1 → NP_001393735.1  DNA mismatch repair protein Msh6 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC006509

    17. NM_001406807.1 → NP_001393736.1  DNA mismatch repair protein Msh6 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC006509

    18. NM_001406808.1 → NP_001393737.1  DNA mismatch repair protein Msh6 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC006509

    19. NM_001406809.1 → NP_001393738.1  DNA mismatch repair protein Msh6 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC006509
      UniProtKB/Swiss-Prot
      B4DF41, B4E3I4, F5H2F9, O43706, O43917, P52701, Q8TCX4, Q9BTB5

    20. NM_001406811.1 → NP_001393740.1  DNA mismatch repair protein Msh6 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC006509

    21. NM_001406812.1 → NP_001393741.1  DNA mismatch repair protein Msh6 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC006509

    22. NM_001406813.1 → NP_001393742.1  DNA mismatch repair protein Msh6 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC006509

    23. NM_001406814.1 → NP_001393743.1  DNA mismatch repair protein Msh6 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC006509

    24. NM_001406815.1 → NP_001393744.1  DNA mismatch repair protein Msh6 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC006509

    25. NM_001406816.1 → NP_001393745.1  DNA mismatch repair protein Msh6 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC006509

    26. NM_001406817.1 → NP_001393746.1  DNA mismatch repair protein Msh6 isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC006509
      UniProtKB/TrEMBL
      A0A8V8TPJ4
      Related
      ENSP00000514749.1, ENST00000700000.1

    27. NM_001406818.1 → NP_001393747.1  DNA mismatch repair protein Msh6 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC006509
      UniProtKB/TrEMBL
      A0A494C0M1, C9J7Y7, C9J8Y8, C9JH55
      Related
      ENSP00000397484.2, ENST00000455383.6

    28. NM_001406819.1 → NP_001393748.1  DNA mismatch repair protein Msh6 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC006509
      UniProtKB/TrEMBL
      A0A494C0M1, C9J7Y7, C9J8Y8, C9JH55
      Related
      ENSP00000390382.2, ENST00000420813.6

    29. NM_001406820.1 → NP_001393749.1  DNA mismatch repair protein Msh6 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC006509
      UniProtKB/TrEMBL
      A0A494C0M1, C9J7Y7, C9J8Y8, C9JH55
      Related
      ENSP00000406248.2, ENST00000411819.2

    30. NM_001406821.1 → NP_001393750.1  DNA mismatch repair protein Msh6 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC006509
      UniProtKB/TrEMBL
      A0A494C0M1, C9J7Y7, C9J8Y8, C9JH55

    31. NM_001406822.1 → NP_001393751.1  DNA mismatch repair protein Msh6 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC006509

    32. NM_001406823.1 → NP_001393752.1  DNA mismatch repair protein Msh6 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC006509

    33. NM_001406824.1 → NP_001393753.1  DNA mismatch repair protein Msh6 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC006509
      UniProtKB/TrEMBL
      A0A494C0M1, C9J7Y7, C9J8Y8, C9JH55

    34. NM_001406825.1 → NP_001393754.1  DNA mismatch repair protein Msh6 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC006509
      UniProtKB/TrEMBL
      A0A494C0M1, C9J7Y7, C9J8Y8, C9JH55

    35. NM_001406826.1 → NP_001393755.1  DNA mismatch repair protein Msh6 isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC006509

    36. NM_001406827.1 → NP_001393756.1  DNA mismatch repair protein Msh6 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC006509
      UniProtKB/TrEMBL
      A0A494C0M1, C9J7Y7, C9J8Y8, C9JH55

    37. NM_001406828.1 → NP_001393757.1  DNA mismatch repair protein Msh6 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC006509
      UniProtKB/TrEMBL
      A0A494C0M1, C9J7Y7, C9J8Y8, C9JH55

    38. NM_001406829.1 → NP_001393758.1  DNA mismatch repair protein Msh6 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC006509

    39. NM_001406830.1 → NP_001393759.1  DNA mismatch repair protein Msh6 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC006509
      UniProtKB/TrEMBL
      A0A494C0M1, C9J7Y7, C9J8Y8, C9JH55

    40. NM_001406831.1 → NP_001393760.1  DNA mismatch repair protein Msh6 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC006509

    41. NM_001406832.1 → NP_001393761.1  DNA mismatch repair protein Msh6 isoform 20

      Status: REVIEWED

      Source sequence(s)
      AC006509
      Related
      ENST00000700005.1

    42. NM_001407362.1 → NP_001394291.1  DNA mismatch repair protein Msh6 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC006509

    RNA

    1. NR_176256.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006509

    2. NR_176257.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006509

    3. NR_176258.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006509
      Related
      ENST00000445503.5

    4. NR_176259.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006509

    5. NR_176261.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006509
      Related
      ENST00000699999.1

    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
      47783145..47810101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      47789083..47816050
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P52701.2 GenPept UniProtKB/Swiss-Prot:P52701

    Gene LinkOut

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

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