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MSH6 Gene

protein-coding   GIFtS: 72

GC02P047921
mutS homolog 6 (E. coli)
(Previous name: mutS (E. coli) homolog 6 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: GTBP)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
GTBP 2, 3, 5
GTMBP 3
HNPCC5 2, 5
HSAP 2
p160 3
Descriptions
G/T mismatch-binding protein 2, 3
MutS-alpha 160 kDa subunit 3
mutS (E. coli) homolog 6 1
mutS homolog 6 2
mutS homolog 6 (E. coli) 2
sperm-associated protein 2
External Ids
HGNC: 73291
Entrez Gene: 29562
UniProtKB: P527013
Ensembl: ENSG000001160627
Search outside databases for aliases for MSH6 gene

Previous GC identifers: GC02P048026 GC02P048179 GC02P047984

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for MSH6:
This gene encodes a protein similar to the MutS protein. 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 of this gene combines 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 have been identified in individuals
with hereditary nonpolyposis colon cancer (HNPCC) and endometrial cancer. [provided by RefSeq]

UniProtKB/Swiss-Prot: MSH6_HUMAN, P52701
Function: Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with
MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound,
MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base
mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding,
forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for
directing the downstream MMR events, including strand discrimination, excision, and resynthesis.
ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity
associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA
provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts
MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA
backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA
homologous recombination repair

Gene Wiki entry for MSH6

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the MSH6 gene  

Entrez Gene cytogenetic band: 2p16   Ensembl cytogenetic band:  2p16.3   HGNC cytogenetic band: 2p16

MSH6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P047921:     (about GC identifiers)

Start:
47,863,725 bp from pter
End:
47,887,596 bp from pter
Size:
23,872 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000002.10  NT_022184.14  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: MSH6_HUMAN, P52701 (See protein sequence)
Recommended Name: DNA mismatch repair protein Msh6  
Size: 1360 amino acids; 152786 Da
Subunit: Heterodimer consisting of MSH2-MSH6 (MutS alpha). Forms a ternary complex with MutL alpha
(MLH1-PMS1). Interacts with EXO1. Part of the BRCA1-associated genome surveillance complex (BASC),
which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex.
This association could be a dynamic process changing throughout the cell cycle and within
subnuclear domains. Interacts with ATR
Subcellular location: Nucleus
PDB structures from and Proteopedia :
2GFU (3D)    2O8B (3D)    2O8C (3D)    2O8D (3D)    2O8E (3D)    2O8F (3D)    
Secondary accessions: O43706 O43917 Q8TCX4 Q9BTB5
Alternative splicing: 2 isoforms:  P52701-1   P52701-2   

Post-translational modifications:

  • The N-terminus is blocked1
  • Phosphorylated upon DNA damage, probably by ATM or ATR1
  • Phosphorylated by PRKCZ, which may prevent MutS alpha degradation by the ubiquitin-proteasome
    pathway1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_000170.1  

    ENSEMBL proteins: 
    ENSP00000234420 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (MSH6)
    Human Recombinant Proteins from Abnova (MSH6)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790 nuclear chromatin IEA--
    GO:0005634 nucleus IEA--
    GO:0032301 MutSalpha complex IDA8942985
    About this table

    Antibodies for MSH6: 
    Invitrogen Antibodies for MSH6
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibody Arrays and Antibodies for MSH6
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (MSH6), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (MSH6)
    Novus Biologicals Antibodies for MSH6

    Assays for MSH6: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5/9 InterPro domains/families (see all 9 ):
     IPR017261 DNA_mismatch_repair_Msh6
     IPR016151 DNA_mismatch_repair_MutS_N
     IPR007861 DNA_mismatch_repair_MutS_clamp
     IPR007860 DNA_mismatch_repair_MutS_connt
     IPR000432 DNA_mismatch_repair_MutS_C


       GeneDecks  MSH6 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P52701

    ProtoNet protein and cluster: P52701

    3 Blocks protein families:
    IPB000313 PWWP domain
    IPB007695 DNA mismatch repair protein MutS
    IPB007696 MutS III


    UniProtKB/Swiss-Prot: MSH6_HUMAN, P52701
    Similarity: Belongs to the DNA mismatch repair mutS family
    Similarity: Contains 1 PWWP domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (MSH6)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (MSH6)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000179

                  Applied Biosystems Silencer® siRNAs for MSH6

                  Sigma-Aldrich siRNA and siRNA Panels for MSH6  
                         Sigma-Aldrich shRNA for MSH6  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000179
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000179
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_000179 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000179

    UniProtKB/Swiss-Prot: MSH6_HUMAN, P52701
    Function: Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with
    MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound,
    MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base
    mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding,
    forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for
    directing the downstream MMR events, including strand discrimination, excision, and resynthesis.
    ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity
    associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA
    provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts
    MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA
    backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA
    homologous recombination repair

    Genatlas biochemistry entry for MSH6:
    must S (E coli) homolog 6,GT binding protein,complexing with MSH2 in mismatch repair (MUTS alpha
    heterodimer),functioning as a molecular switch between ADP and ATP bound forms,selective for
    repair or GT mispair and single deplaced bases,with two alternatively spliced
    isoforms,GTBPN,mutated in gastric carcinomas in association with microsatellite mutator phenotype
    (MMP),deleted in sporadic colorectal cancer (early onset)

    2 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Msh6):

    life span-post-weaning/agingtumorigenesis

    5/17 Gene Ontology (GO) molecular function terms (links to tree view) (see all 17 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0000287contributes to magnesium ion binding IDA16403449
    GO:0000400contributes to four-way junction DNA binding IDA12034830
    GO:0000701 purine-specific mismatch base pair DNA N-glycosylase activity IMP11005803
    GO:0003682 chromatin binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    1 Invitrogen iPath™ Online BioAtlas - Pathway for MSH6 (Maps provided by GeneGo):
     Role of Brca1 and Brca2 in DNA repair

       GeneDecks  MSH6 for the pathways selected above  
    About GeneDecksing

    1 Millipore Pathway for MSH6
     DNA damage Role of Brca1 and Brca2 in DNA repair

       GeneDecks  MSH6 for the pathways selected above  
    About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  MSH6  (Your Favorite Gene powered by Ingenuity) 
     Role of BRCA1 in DNA Damage Response

       GeneDecks  MSH6 for the pathways selected above  
    About GeneDecksing

    3 Kegg Pathways  (Kegg details for MSH6):
     hsa03430 Mismatch repair
     hsa05200 Pathways in cancer
     hsa05210 Colorectal cancer

       GeneDecks  MSH6 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  MSH6 


    5/57 Interacting proteins for MSH6 (P527011, 2 ENSP000002344203) via UniProtKB, MINT, and/or STRING (see all 57 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MSH2P432461, ENSP000002331463EBI-395529, EBI-355888 STRING (score=.999)
    CASP4P496621EBI-395529, EBI-1057327
    PSMD4P550362MINT-3372882
    PCNAENSP000003684383STRING (score=.999)
    BRCA1ENSP000003502833STRING (score=.997)
    About this table

    5/11 Gene Ontology (GO) biological process terms (links to tree view) (see all 11 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000710 meiotic mismatch repair ISS--
    GO:0006974 response to DNA damage stimulus IEA--
    GO:0008340 determination of adult life span IEA--
    GO:0008630 DNA damage response, signal transduction resulting in induction of apoptosis IEA--
    GO:0009411 response to UV IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for MSH6
    6 Novoseek chemical compound relationships for MSH6 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    mononucleotide 78.54 11 10918391 (2), 11054716 (1), 8805365 (1), 10934138 (1) (see all 8)
    crcs 69.18 4 17117178 (2), 15887099 (1), 11306449 (1)
    o6-methylguanine 58.05 2 10954713 (2)
    n-methyl-n'-nitrosourea 29.53 1 10954713 (1)
    tyrosine 4.53 1 7739521 (1)
    threonine 0.00 1 8617235 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (MSH6)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (MSH6)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000179

                  Sigma-Aldrich siRNA and siRNA Panels for MSH6  
                         Sigma-Aldrich shRNA for MSH6  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000179  

    REFSEQ mRNAs for MSH6 gene: 

    NM_000179.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000179  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000179
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000179
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_000179 

    Additional cDNA sequence: 

    AK130683.1 AK293921.1 AK304735.1 AK308392.1 BC004246.1 BC071594.1 BC104665.1 D89646.1 
    U28946.1 U54777.2 

    16 DOTS entries:

    DT.101958448  DT.91759465  DT.419083  DT.100798420  DT.109348  DT.95214649  DT.95229340  DT.450978 
    DT.95229311  DT.102836851  DT.92005749  DT.120935256  DT.40106377  DT.40133304  DT.95229350  DT.97860065 

    24/282 AceView cDNA sequences (see all 282 ):

    AA830138 AA226977 CB127844 AI016113 AW452697 BQ059465 BC040724 BQ772835 
    AI433156 CB160008 BQ012468 AI341470 AA025294 BC004246 CB122519 BX100831 
    BG393107 AA321991 AA811388 BM797714 BG535053 BM785404 AW248497 AI148344 

    highest scoring ESTs for MSH6:

    U28946 AA024534 AA025294 AA160060 AA171937 AA226977 AA470117 AA480652 AA768743 AA811388 

    Unigene Cluster for MSH6:

    MutS homolog 6 (E. coli)
    Hs.445052  [show with all ESTs]
    Unigene Representative Sequence: NM_000179


    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for MSH6 (see all 9 )

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
    SP1:                                -     -     -     -                                         -                                       
    SP2:                                -     -     -     -                 -                       -                                       
    SP3:                                -     -     -     -                                                                                 
    SP4:                          -     -     -     -     -                                                                                 
    SP5:                                            -     -                                                                                 

    About this scheme

    ECgene alternative splicing isoforms for MSH6

    1 Ensembl transcript including schematic representation:
    ENST00000234420  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    MSH6 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for MSH6

    1 / 2 / 3

    12 probe-sets matching MSH6 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    2003_s_at2, 3 U95-A 1 1.00 1.00 0.23 0.97 U28946 1.00 0.90 0.95 1
    78550_at2, 3 U95-E 1 0.44 1.00 0.70 1.04 AA012912 0.20 0.50 0.38 1

    1017_at*2 U95-A 1 -- -- 0.73 0.74 -- -- -- -- --

    80342_at*2, 3 U95-E 1 -- -- 0.33 1.25 AA814800 0.20 1.00 0.72 1

    202911_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000179 0.60 0.83 0.73 1

    211450_s_at2, 3 U133-A 1 1.00 1.00 -- -- D89646 0.60 0.83 0.73 1

    211449_at2, 3 U133-A 1 1.00 1.00 -- -- D89646 0.60 0.83 0.73 1

    240148_at*2, 3 U133-B NULL 0.00 0.00 -- -- AA814800 0.20 1.00 0.72 1

    202911_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    211450_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    211449_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    240148_at*2 U133Plus2 NULL 0.00 0.00 -- -- -- -- -- -- --
    GeneDecks  MSH6 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.445052

    Expression variation in blood from EXPOLDB for MSH6

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for MSH6 gene from 5/21 species (see all 21 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    MSH61   -- mutS homolog 6 (E. coli) 91.48(n)
    93.49(a)
    474585  XM_531814.2  XP_531814.2 
    cow
    (Bos taurus)
    MSH61   -- mutS homolog 6 (E. coli) 90.55(n)
    92.27(a)
    540526  XM_611908.3  XP_611908.2 
    mouse
    (Mus musculus)
    Msh61, 5 17 (47.00 cM)5
    mutS homolog 6 (E. coli)1, 5 84.76(n)1
    86.48(a)1
    176881  NM_010830.11  NP_034960.11 
     AA1170105  AF0310855  (see all 21)
    chicken
    (Gallus gallus)
    MSH61   -- mutS homolog 6 (E. coli) 68.18(n)
    69.69(a)
    421291  XM_419359.2  XP_419359.2 
    zebrafish
    (Danio rerio)
    msh62   -- mutS homolog 6 76.47(n) 260437  AF412834.1 
    About this table        Species with no ortholog for MSH6

    ENSEMBL Gene Tree for MSH6
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for MSH6 gene
    MSH32  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/482 NCBI SNPs in MSH6 are shown (see all 482 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 110)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs3307921,2
    A,C,F,H47862078(-) tgcatT/Gtcatc 1 -- ng51 tfbs34Minor allele frequency- G:0.05EU EA WA 418
    rs20209081,2
    C,F,H47879812(+) CTACAC/GTCTAT 1 L/V mis1 ese38Minor allele frequency- G:0.01NA NS MN EU EA WA 1062
    rs31362281,2
    C,F,H47863320(+) CTCCGT/GCTCCT 1 -- ng5116Minor allele frequency- G:0.20NS EU EA WA MN CSAM 1624
    rs20209141,2
    C,F,H47881282(+) CTAAAA/GTCCTT 1 I/V mis17Minor allele frequency- G:0.00NA NS MN EU EA WA 850
    rs20209121,2
    C,F,H47881259(+) AGAAGT/CTGCTG 1 A/V mis1 ese38Minor allele frequency- C:0.01NA MN EU EA WA 952
    --
    rs31362291,2
    C,F47863429(+) CGCCCG/AGGCGG 1 -- ng516Minor allele frequency- A:0.06NS MN CSAM EA 550
    rs10428211,2
    C,F47863992(-) AGGCCC/TCGGGG 1 G/E mis1 ese37Minor allele frequency- T:0.14NS EU MN CSAM EA 744
    rs357177271,2
    F47886900(+) TTAAAG/CAACTT 1 Q/E mis15Minor allele frequency- C:0.01MN CSAM EA 408
    --
    rs31362271,2
    C47863111(+) AGGATC/AGATTT 1 -- ng51 tfbs36Minor allele frequency- A:0.00NS MN CSAM EA 554
    rs7286191,2
    H47880239(+) TAAGTA/CTCTTC 1 Y/S mis1 ese36Minor allele frequency- C:0.00NA EU EA WA 584
    About this table

    HapMap Linkage Disequilibrium images for MSH6 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 600678

    UniProtKB/Swiss-Prot: MSH6_HUMAN, P52701

  • Defects in MSH6 are the cause of hereditary non-polyposis colorectal cancer type 5
    (HNPCC5) [MIM:600678]. Mutations in more than one gene locus can be involved alone or in
    combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families
    with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an
    autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility.
    It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and
    extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPCC is
    reported to be the most common form of inherited colorectal cancer in the Western world. Cancers
    in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often
    divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of
    onset, and carcinoma observed in the proximal colon. Type II: patients have an increased risk for
    cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and
    larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria:
    3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2
    or more generation affected; 1 or more colorectal cancers presenting before 50 years of age;
    exclusion of hereditary polyposis syndromes. MSH6 mutations appear to be associated with atypical
    HNPCC and in particular with development of endometrial carcinoma or atypical endometrial
    hyperplasia, the presumed precursor of endometrial cancer. Defects in MSH6 are also found in
    familial colorectal cancers (suspected or incomplete HNPCC) that do not fulfill the Amsterdam
    criteria for HNPCC
  • Defects in MSH6 are a cause of susceptibility to endometrial cancer [MIM:608089]
  • 10/42 Novoseek disease relationships for MSH6 gene (see all 42 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    lynch syndrome 94.92 20 18625694 (3), 10404064 (1), 18030674 (1), 17453009 (1) (see all 16)
    microsatellite instability 94.35 43 17117178 (3), 12019211 (1), 16203774 (1), 16879751 (1) (see all 37)
    colorectal cancer 87.54 196 11333868 (5), 18067074 (5), 17117178 (4), 18269114 (4) (see all 91)
    hereditary nonpolyposis colon cancer 83.95 2 16237223 (1), 15184898 (1)
    endometrial cancer 83.21 26 15805151 (3), 18269114 (3), 14961575 (2), 14760069 (1) (see all 19)
    germ-line mutation 74.58 17 18331697 (3), 11245474 (3), 15872200 (2), 16885385 (2) (see all 10)
    muir-torre syndrome 73.22 1 18270343 (1)
    colorectal carcinoma 66.90 4 10965560 (1), 14871813 (1), 15613860 (1), 10537275 (1)
    colorectal tumors 63.96 1 9674699 (1)
    turcot syndrome 63.28 2 16000562 (2)
    About this table

    GeneTests: MSH6
    Hereditary Non-Polyposis Colon Cancer

    Human Gene Mutation Database: MSH6
    Genetic Association Database: MSH6
    Human Genome Epidemiology Navigator: MSH6 (68 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/391 PubMed articles for MSH6 gene (see all 391 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 2956 HGNC: 7329 AceView: MSH6 Ensembl:ENSG00000116062 euGenes: HUgn2956
    ECgene: MSH6 H-InvDB: MSH6
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for MSH6 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.genetests.org/query?gene=MSH6
    Hereditary non-polyposis colorectal cancer dbhttp://www.nfdht.nl/
    NIEHS-SNPshttp://egp.gs.washington.edu/data/msh6/
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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