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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MSH3 Gene

protein-coding   GIFtS: 65
GCID: GC05P079986

mutS homolog 3 (E. coli)

(Previous name: mutS (E. coli) homolog 3 )
 Explore 34 diseases affiliated with
MSH3 via our new
 Human Malady Compendium 
Biological research products
for MSH3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
MutS Homolog 3 (E. Coli)1 2     HMSH31
DUP1 2 3     MutS (E. Coli) Homolog 31
MRP11 2 3     DNA Mismatch Repair Protein Msh32
Divergent Upstream Protein2 3     DUC13
Mismatch Repair Protein 12 3     DUG3

External Ids:    HGNC: 73261   Entrez Gene: 44372   Ensembl: ENSG000001133187   OMIM: 6008875   UniProtKB: P205853   

Export aliases for MSH3 gene to outside databases

Previous GC identifers: GC05P078772 GC05P080189 GC05P079989 GC05P080034 GC05P075159


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MSH3:
The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA
mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with
MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is
present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause
of susceptibility to endometrial cancer. (provided by RefSeq, Mar 2011)

UniProtKB/Swiss-Prot: MSH3_HUMAN, P20585
Function: Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS
beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA
helix and shields approximately 20 base pairs. MutS beta recognizes large insertion-deletion loops (IDL) up to 13
nucleotides long. 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

Gene Wiki entry for MSH3


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006713.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MSH3 gene promoter:
         USF1   Sp1   p53   USF2   USF-1:USF-2   Pax-3   POU2F1   USF-1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMSH3 promoter sequence
   Search SABiosciences Chromatin IP Primers for MSH3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MSH3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q11-q12   Ensembl cytogenetic band:  5q14.1   HGNC cytogenetic band: 5q11-q12

MSH3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MSH3 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P079986:  view genomic region     (about GC identifiers)

Start:
79,950,294 bp from pter      End:
80,172,634 bp from pter
Size:
222,341 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MSH3_HUMAN, P20585 (See protein sequence)
Recommended Name: DNA mismatch repair protein Msh3  
Size: 1137 amino acids; 127412 Da
Subunit: Heterodimer consisting of MSH2-MSH3 (MutS beta). Forms a ternary complex with MutL alpha (MLH1-PMS1).
Interacts with EXO1
Sequence caution: Sequence=AAH11817.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A
sequence;
4 PDB 3D structures from and Proteopedia for MSH3:
3THW (3D)        3THX (3D)        3THY (3D)        3THZ (3D)    
Secondary accessions: A1L482 A6NMM6 Q6PJT5 Q86UQ6 Q92867

Explore the universe of human proteins at neXtProt for MSH3: NX_P20585

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P20585

  • MSH3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002430.3  
    ENSEMBL proteins: 
     ENSP00000265081  

    Human Recombinant Protein Products: 
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    Novus Biologicals MSH3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MSH3

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000228nuclear chromosome IBA--
    GO:0005634nucleus IDA--
    GO:0032302MutSbeta complex IDA8942985


    MSH3 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MSH3


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

    MSH3 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR007861 DNA_mismatch_repair_MutS_clamp
     IPR007696 DNA_mismatch_repair_MutS_core
     IPR007695 DNA_mismatch_repair_MutS-lik_N
     IPR007860 DNA_mmatch_repair_MutS_con_dom
     IPR016151 DNA_mismatch_repair_MutS_N

    Graphical View of Domain Structure for InterPro Entry P20585

    ProtoNet protein and cluster: P20585

    2 Blocks protein families:
    IPB007695 DNA mismatch repair protein MutS
    IPB007696 MutS III


    UniProtKB/Swiss-Prot: MSH3_HUMAN, P20585
    Similarity: Belongs to the DNA mismatch repair MutS family. MSH3 subfamily


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: MSH3_HUMAN, P20585
    Function: Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS
    beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA
    helix and shields approximately 20 base pairs. MutS beta recognizes large insertion-deletion loops (IDL) up to 13
    nucleotides long. 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

         Genatlas biochemistry entry for MSH3:
    yeast mutator gene homolog (bacteria mutS),complexing with MSH2 in mismatch repair,with reduced expression in
    hematological malignancies and in non-small cell lung cancer,overlapping dehydrofolate reductase and transcribed in
    opposite orientation (see TSG5B),deleted in sporadic colorectal cancer in breast cancer

    miRNA
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    miRTarBase miRNAs that target MSH3:
    hsa-mir-326 (MIRT004747)

    OriGene 3'-UTR Clone: MSH3
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MSH3
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate MSH3:
    hsa-miR-3163 hsa-miR-1178 hsa-miR-576-5p hsa-let-7a-2* hsa-miR-944 hsa-miR-664 hsa-let-7g* hsa-miR-590-3p
    SwitchGear 3'UTR luciferase reporter plasmidMSH3 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MSH3 (see all 4)
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    OriGene siRNA: MSH3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MSH3

    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MSH3 (see all 2)
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    GenScript: all cDNA clones in your preferred vector: MSH3 (NM_002439)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MSH3 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSH3

    Gene Ontology (GO): 5/18 molecular function terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000403Y-form DNA binding IBA--
    GO:0000404loop DNA binding IBA--
    GO:0000406double-strand/single-strand DNA junction binding IBA--
    GO:0003677DNA binding ----
    GO:0003684damaged DNA binding ----


    MSH3 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for MSH3: Msh3tm1Htr Msh3tm1Rak
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Msh3):
     cellular  homeostasis/metabolism  integument  mortality/aging  tumorigenesis 

    MSH3 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lagging Strand Synthesis
    Mismatch repair0.48
    Mismatch Repair in Eukaryotes0.33
    2Formation of RNA Pol II elongation complex
    DNA damage_Role of Brca1 and Brca2 in DNA repair0.17
    DNA damage Role of Brca1 and Brca2 in DNA repair0.17
    3Colorectal Cancer Metastasis
    Colorectal Cancer Metastasis1.00
    4Pathways in cancer
    Pathways in cancer1.00
    5Endometrial cancer
    Colorectal cancer0.42

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for MSH3
        DNA damage Role of Brca1 and Brca2 in DNA repair

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MSH3
        Mismatch Repair in Eukaryotes
    DNA Repair Mechanisms
    Colorectal Cancer Metastasis

    1 GeneGo (Thomson Reuters) Pathway for MSH3
        DNA damage Role of Brca1 and Brca2 in DNA repair


    3         Kegg Pathways  (Kegg details for MSH3):
        Mismatch repair
    Pathways in cancer
    Colorectal cancer


    MSH3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MSH3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/90 Interacting proteins for MSH3 (P205851, 2, 3 ENSP000002650814) via UniProtKB, MINT, STRING, and/or I2D (see all 90)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MSH2P432461, 3, ENSP000002331464EBI-1164205,EBI-355888 I2D: score=10 STRING: ENSP00000233146
    HIST1H2BCP628073I2D: score=2 
    HIST1H2BEP628073I2D: score=2 
    HIST1H2BFP628073I2D: score=2 
    HIST1H2BGP628073I2D: score=2 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000710meiotic mismatch repair IBA--
    GO:0006281DNA repair IDA8942985
    GO:0006298mismatch repair IMP8782829
    GO:0007131reciprocal meiotic recombination IBA--
    GO:0016447somatic recombination of immunoglobulin gene segments IBA--


    MSH3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MSH3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MSH3
    5 Novoseek chemical compound relationships for MSH3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mononucleotide 74.1 4 10918391 (2), 14871813 (1)
    dihydrofolate 65.6 10 8029024 (2), 1451803 (2), 7971995 (1), 9294177 (1) (see all 5)
    cisplatin 26.1 4 7971995 (2), 9889125 (1)
    doxorubicin 13.1 1 9889125 (1)
    alanine 1.64 1 11005803 (1)

    Search CenterWatch for drugs/clinical trials and news about MSH3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MSH3 gene: 
    NM_002439.4  

    Unigene Cluster for MSH3:

    MutS homolog 3 (E. coli)
    Hs.280987  [show with all ESTs]
    Unigene Representative Sequence: NM_002439
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265081(uc003kgz.3) ENST00000512531 ENST00000512258

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MSH3
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate MSH3:
    hsa-miR-3163 hsa-miR-1178 hsa-miR-576-5p hsa-let-7a-2* hsa-miR-944 hsa-miR-664 hsa-let-7g* hsa-miR-590-3p
    SwitchGear 3'UTR luciferase reporter plasmidMSH3 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MSH3 (see all 4)
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    OriGene siRNA: MSH3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MSH3
    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MSH3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MSH3

    Additional cDNA sequence: 

    AK289856.1 BC004177.2 BC011817.2 BC017273.2 BC098436.1 BC130434.1 BC130436.1 J04810.1 
    U61981.1 

    4 DOTS entries:

    DT.110960  DT.92455271  DT.95268392  DT.100751042 

    24/36 AceView cDNA sequences (see all 36):

    CB144035 AA251023 AA382889 BU172337 AI888396 BC017273 AW069265 BM999530 
    BG188772 BF104775 BP374216 BG199292 BG202122 J04810 AW674277 AU139133 
    CA429363 CK000914 BX481637 BV169317 BV175078 BU430026 BI222414 AW473270 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MSH3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAATTTAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See MSH3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MSH3

    SOURCE GeneReport for Unigene cluster: Hs.280987
        SABiosciences Expression via Pathway-Focused PCR Arrays including MSH3: 
              DNA Damage Signaling Pathway in human mouse rat
              Telomeres & Telomerase in human mouse rat
              Liver Cancer in human mouse rat
              DNA Repair in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MSH3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSH3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for MSH3 gene from 7/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Msh31 , 5 mutS homolog 3 (E. coli)1, 5 82.48(n)1
    81.63(a)1
      13 (47.63 cM)5
    176861  NM_010829.21  NP_034959.21 
     922118815 
    chicken
    (Gallus gallus)
    Aves MSH31 mutS homolog 3 (E. coli) 72.24(n)
    70.12(a)
      427318  XM_003643079.1  XP_003643127.1 
    lizard
    (Anolis carolinensis)
    Reptilia MSH36
    --
    67(a)
    1 ↔ 1
    2(17211752-17272810)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.283622 Transcribed sequence with weak similarity to protein more 75.44(n)    57047801 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MSH31 DNA mismatch repair protein Msh3 50.14(n)
    43.14(a)
      828659  NM_118686.2  NP_194284.2 
    rice
    (Oryza sativa)
    Liliopsida Os.273602 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.11(n)    AK065300.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria mutS6
    methyl-directed mismatch repair protein
    25(a)
    possible ortholog
    Chromosome(2855115-2857676)


    ENSEMBL Gene Tree for MSH3 (if available)
    TreeFam Gene Tree for MSH3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3897 NCBI SNPs in MSH3 are shown (see all 3897    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs24058751,2
    --75159611(+) GCGGCC/TGCAGC 2 A syn1 ese30--------
    rs61516021,2
    C,--75162129(+) gaggcG/Agaggt 1 -- int11Minor allele frequency- A:0.01NS 160
    rs725387931,2
    C,--75162616(+) CGTGA-/TTMGAGA 1 -- int10--------
    rs24058801,2
    C,F,--75162729(+) CACCTA/CTGATT 1 -- int15Minor allele frequency- C:0.25WA NA 244
    rs727655661,2
    C,F,--75162885(+) GTTCAA/GTCTCT 1 -- int11Minor allele frequency- G:0.06NA 120
    rs16776801,2
    C,F,--75163971(+) GTGACA/GGAGTG 1 -- int13Minor allele frequency- G:0.23NA WA 124
    rs16436521,2
    C,F,--75164016(-) TATTGC/TATAAC 1 -- int17Minor allele frequency- T:0.18NA WA EA 366
    rs358453511,2
    C,--75164783(+) ACGTAT/-TTTTG 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs77095291,2
    C,--75164820(+) AGAGAC/TGCAta 1 -- int10--------
    rs16436511,2
    C,F,A,--75164861(-) ccagtC/Atctgg 1 -- int14Minor allele frequency- A:0.08MN NA WA 190

    HapMap Linkage Disequilibrium report for MSH3 (79950294 - 80172634 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 15 variations for MSH3
         8 CNVs: 31243 93111 93112 93114 80963 93113 0065 99183
         7 Indels: 12708 42490 46927 40773 28012 62393 33408
    Human Gene Mutation Database (HGMD): MSH3

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MSH3 for disorders           About GeneDecksing

    OMIM gene information: 600887    OMIM disorders: --

    UniProtKB/Swiss-Prot: MSH3_HUMAN, P20585
  • Defects in MSH3 are a cause of susceptibility to endometrial cancer (ENDMC) [MIM:608089]

  • 20/34 diseases for MSH3 (see all 34):    About MalaCards
    endometrial cancer    spina bifida    adenoid cystic carcinoma    lynch syndrome
    papillary thyroid carcinoma    acute lymphoblastic leukemia    basal cell carcinoma    lymphoblastic leukemia
    acute myeloid leukemia    epithelial ovarian cancer    werner syndrome    myeloid leukemia
    mucoepidermoid carcinoma    adenoiditis    endometrial carcinoma    ovarian cancer
    colorectal cancer    thyroid carcinoma    carcinoma    leukemia

    2 diseases from the University of Copenhagen DISEASES database for MSH3:
    Lynch syndrome     Colorectal cancer

    10/12 Novoseek disease relationships for MSH3 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microsatellite instability 81.2 7 8782829 (2), 9699180 (1), 7479796 (1), 10069456 (1)
    endometrial cancer 57.4 4 9699180 (3), 8782829 (1)
    colorectal cancer 51 5 14871813 (2), 9740671 (1), 10545954 (1)
    endometrial carcinoma 41.6 4 8782829 (2), 15350299 (1)
    colorectal carcinoma 34.9 2 14871813 (2)
    somatic mutations 30.6 2 9927063 (1), 15350299 (1)
    ovarian cancer 22.1 1 16774946 (1)
    primary tumor 21.8 2 14871813 (1)
    tumors 17.8 26 14871813 (6), 10918391 (2), 9699180 (2), 10751599 (1) (see all 6)
    bladder cancer 17.1 1 15541380 (1)

    Genetic Association Database (GAD): MSH3
    Human Genome Epidemiology (HuGE) Navigator: MSH3 (34 documents)

    Export disorders for MSH3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MSH3 gene, integrated from 9 sources (see all 126):
    (articles sorted by number of sources associating them with MSH3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association between single nucleotide polymorphisms in the hMSH3 gene and sporadic colon cancer with microsatellite instability. (PubMed id 10944853)1, 2, 4 Orimo H.... Shimada T. (2000)
    2. hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6. (PubMed id 8942985)1, 2, 9 Acharya S.... Fishel R. (1996)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Role of DNA mismatch repair genetic polymorphisms in the risk of childhood acute lymphoblastic leukaemia. (PubMed id 14510941)1, 4 Mathonnet G....Sinnett D. (2003)
    5. Variable continental distribution of polymorphisms in the coding regions of DNA-repair genes. (PubMed id 14625810)1, 4 Mathonnet G....Sinnett D. (2003)
    6. Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia. (PubMed id 11895912)1, 4 Krajinovic M....Sinnett D. (2002)
    7. The interaction of DNA mismatch repair proteins with human exonuclease I. (PubMed id 11427529)1, 2 Schmutte C.... Fishel R. (2001)
    8. Nine-bp repeat polymorphism in exon 1 of the hMSH3 gene. (PubMed id 8851770)1, 2 Nakajima E.... Shimada T. (1995)
    9. Isolation and characterization of cDNA clones derived from the divergently transcribed gene in the region upstream from the human dihydrofolate reductase gene. (PubMed id 2722860)1, 2 Fujii H. and Shimada T. (1989)
    10. Loss of MSH3 protein expression is frequent in MLH1-deficient colorectal cancer and is associated with disease progression. (PubMed id 14871813)1, 9 Plaschke J....Schackert H.K. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Disorders
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4437 HGNC: 7326 AceView: MSH3 Ensembl:ENSG00000113318 euGenes: HUgn4437
    ECgene: MSH3 Kegg: 4437 H-InvDB: MSH3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MSH3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MSH3 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/msh3/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MSH3 gene:
    Search GeneIP for patents involving MSH3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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