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

MSH3 Gene

protein-coding   GIFtS: 66
GCID: GC05P079986

MutS Homolog 3

(Previous names: mutS (E. coli) homolog 3, mutS homolog 3 (E. coli))
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
MutS Homolog 31 2     MutS (E. Coli) Homolog 31
Divergent Upstream Protein1 2 3     MutS Homolog 3 (E. Coli)1
Mismatch Repair Protein 11 2 3     DNA Mismatch Repair Protein Msh32
DUP2 3     DUC13
MRP12 3     DUG3
hMSH32 3     

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 Gene:
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)

GeneCards Summary for MSH3 Gene: 
MSH3 (mutS homolog 3) is a protein-coding gene. Diseases associated with MSH3 include lynch syndrome, and mucoepidermoid carcinoma, and among its related super-pathways are Mismatch repair and DNA damage Role of Brca1 and Brca2 in DNA repair. GO annotations related to this gene include single-stranded DNA binding and protein homodimerization activity.

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 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for MSH3 at MOPED 

Post-translational modifications:

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

  • MSH3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MSH3 Protein Expression
    REFSEQ proteins: NP_002430.3  
    ENSEMBL proteins: 
     ENSP00000265081  

    Human Recombinant Protein Products for MSH3: 
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    OriGene Protein Over-expression Lysate for MSH3
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for MSH3
    GenScript Custom Purified and Recombinant Proteins Services for MSH3
    Novus Biologicals MSH3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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



    MSH3 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for MSH3 
    Cloud-Clone Corp. CLIAs for MSH3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     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
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P20585

    ProtoNet protein and cluster: P20585

    2 Blocks protein domains:
    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


    MSH3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         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


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Msh3):
     cellular  homeostasis/metabolism  integument  mortality/aging  tumorigenesis 

    MSH3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MSH3: Msh3tm1Htr Msh3tm1Rak

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MSH3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MSH3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MSH3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MSH3 

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

    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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MSH3
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    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for MSH3 (see all 8)
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    GenScript: all cDNA clones in your preferred vector: MSH3 (NM_002439)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MSH3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MSH3
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                         Customized lentivirus expression plasmids for stable overexpression of MSH3 

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSH3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MSH3 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Lagging Strand Synthesis
    Mismatch repair0.56
    Mismatch Repair in Eukaryotes0.54
    2DNA damage Role of Brca1 and Brca2 in DNA repair
    DNA damage Role of Brca1 and Brca2 in DNA repair1.00
    3Endometrial cancer
    Colorectal cancer0.42
    4Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32
    5Pathways in cancer
    Pathways in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    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, Ligands according to IUPHAR, 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 inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    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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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MSH3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MSH3
    Sirion Biotech Customized lentivirus for stable overexpression of MSH3 
                         Customized lentivirus expression plasmids for stable overexpression of MSH3 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MSH3

    Additional mRNA 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):

    AA251023 AA382889 CB144035 AI888396 BU172337 BC017273 BV169317 AW069265 
    BM999530 AW674277 BG199292 J04810 BG188772 CA429363 AU139133 BF104775 
    BG202122 BX481637 CK000914 BP374216 BU430026 BG774714 AW473270 BE514324 

    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 <intensity>2/3
    CGAP TAG: AAATTTAAAA
    MSH3 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

    Primer
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    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 common ancestor of eukaryotes.

    Orthologs for MSH3 gene from 7/16 species (see all 16)    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
    mutS homolog 3 (E. coli)
    64(a)
    1 ↔ 1
    2(17203742-17274996)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.283622 Transcribed sequence with weak similarity to protein more 75.44(n)    57047801 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MSH3(YCR092C)4 Mismatch repair protein, forms dimers with Msh2p that more   --   3(279820-276764) 850454  NP_010016.2 
    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 


    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
    Paralogs for MSH3 gene
    2 SIMAP similar genes for MSH3 using alignment to 2 protein entries:     MSH3_HUMAN (see all proteins):
    DKFZp434C1615    MSH5

    MSH3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/4788 SNPs in MSH3 are shown (see all 4788)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs61517011,2
    F--75213342(+) tatttT/AtttTT 1 -- int11Minor allele frequency- A:0.04NS 168
    rs623669471,2
    --75228645(+) TTTTAA/TTTTGA 1 -- int10--------
    rs716035631,2
    C--75253257(+) TATTT-/ACACACAC/
    ACACACACACAC
    ACACA
    1 -- int11NA 2
    rs1383050391,2
    C--75254639(+) CCAGA-/GTGT/GTGTGT/GTG
    TGTGT
    /GTGTGTGTGTGT
    GTGTG
    3 -- int1 cds10--------
    rs343811501,2
    C--75255102(+) GTCTA-/TTCAGA 1 -- int10--------
    rs1995252991,2
    C--75286945(-) AACAAA/GGGGAA 1 -- int10--------
    rs341780431,2
    C--75302944(+) GATGAGG/-ACAGA 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs591865781,2
    C--75310168(+) CCCCC-/C/CT/T
            
    TACCT
    1 -- int10--------
    rs2010235761,2
    --75314984(+) AACAA-/TATT  
            
    ACAGT
    1 -- int10--------
    rs676202271,2
    C--75314985(+) ACAAT-/ATTA  
            
    CAGTG
    1 -- int10--------

    HapMap Linkage Disequilibrium report for MSH3 (79950294 - 80172634 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/24 variations for MSH3 (see all 24):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2360560CNV Deletion18987734
    esv4350CNV Deletion18987735
    dgv992e201CNV Deletion23290073
    esv2730371CNV Deletion23290073
    esv1008736CNV Deletion20482838
    esv2730372CNV Deletion23290073
    esv2730379CNV Deletion23290073
    esv2730374CNV Deletion23290073
    esv2730375CNV Deletion23290073
    esv2730377CNV Deletion23290073


    Human Gene Mutation Database (HGMD): MSH3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MSH3
    DNA2.0 Custom Variant and Variant Library Synthesis for MSH3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600887    OMIM disorders: --

    UniProtKB/Swiss-Prot: MSH3_HUMAN, P20585
  • Endometrial cancer (ENDMC) [MIM:608089]: A malignancy of endometrium, the mucous lining of the uterus.
    Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other
    fluids. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • 20/29 diseases for MSH3 (see all 29):    About MalaCards
    lynch syndrome    mucoepidermoid carcinoma    werner syndrome    adenoiditis
    adenoid cystic carcinoma    spina bifida    endometrial carcinoma    colorectal cancer
    papillary thyroid carcinoma    ovarian cancer    basal cell carcinoma    esophageal adenocarcinoma
    acute leukemia    acute lymphoblastic leukemia    lymphoblastic leukemia    thyroiditis
    acute myeloid leukemia    pneumonia    atherosclerosis    leukemia

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

    MSH3 for disorders           About GeneDecksing

    10/12 Novoseek inferred 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 132):
    (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. Common variants in mismatch repair genes and risk of invasive ovarian cancer. (PubMed id 16774946)1, 4, 9 Song H....Gayther S.A. (2006)
    3. hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6. (PubMed id 8942985)1, 2, 9 Acharya S.... Fishel R. (1996)
    4. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    5. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    8. Comprehensive screen of genetic variation in DNA repa ir pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)1, 4 Monsees G.M....Han J. (2010)
    9. PTEN identified as important risk factor of chronic o bstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (2009)
    10. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)1, 4 Michiels S....Benhamou S. (2009)

    (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, 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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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