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MSH2 Gene

protein-coding   GIFtS: 72

GC02P047541
mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
(Previous names: mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: COCA1)
Services    

Aliases &
Descriptions
for MSH2

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
COCA1 2, 5
FCC1 2, 5
HNPCC 1, 2
HNPCC1 1, 2, 5
LCFS2 2
Descriptions
MutS protein homolog 2 3
mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type
1) 1
mutS homolog 2 2
mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) 2
External Ids
HGNC: 73251
Entrez Gene: 44362
UniProtKB: P432463
Ensembl: ENSG000000950027
Search outside databases for aliases for MSH2 gene

Previous GC identifers: GC02P047648 GC02P047798 GC02P047604

Summaries
for MSH2

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

 EntrezGene summary for MSH2:
MSH2 was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC).
When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS,
consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found
in HNPCC. [provided by RefSeq]

UniProtKB/Swiss-Prot: MSH2_HUMAN, P43246
Function: Component of the post-replicative DNA mismatch repair system (MMR). Forms two different
heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds
to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and
shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide
insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up
to 13 nucleotides long. After mismatch binding, MutS alpha or beta 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. In
melanocytes may modulate both UV-B-induced cell cycle regulation and apoptosis

Gene Wiki entry for MSH2

Genomic Location
for MSH2

(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 MSH2 gene  

Entrez Gene cytogenetic band: 2p22-p21   Ensembl cytogenetic band:  2p21   HGNC cytogenetic band: 2p21

MSH2 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 GC02P047541:     (about GC identifiers)

Start:
 47,483,767 bp from pter
End:
 47,593,877 bp from pter
Size:
 110,111 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000002.10  NT_022184.14  

Proteins
for MSH2

(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)
About This Section

 UniProtKB/Swiss-Prot: MSH2_HUMAN, P43246 (See protein sequence)
Recommended Name: DNA mismatch repair protein Msh2  
Size: 934 amino acids; 104743 Da
Subunit: Heterodimer consisting of MSH2-MSH6 (MutS alpha) or MSH2-MSH3 (MutS beta). Both
heterodimer form 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 (Potential)
Sequence caution: Sequence=AAC27930.1; Type=Frameshift; Positions=417; Note=The frameshift is
caused by a single nucleotide deletion which is found in a HNPCC kindred;
PDB structures from and Proteopedia :
2O8B (3D)    2O8C (3D)    2O8D (3D)    2O8E (3D)    2O8F (3D)    
Secondary accessions: O75488

Post-translational modifications:

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


    • REFSEQ proteins: NP_000242.1  

    ENSEMBL proteins: 
    ENSP00000378274 ENSP00000378272 ENSP00000384199 ENSP00000233146 


    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 (MSH2)
    Human Recombinant Proteins from Abnova (MSH2)
                    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:0005634 nucleus IEA--
    GO:0032301 MutSalpha complex IDA8942985
    GO:0032302 MutSbeta complex IDA8942985
    About this table

    Antibodies for MSH2: 
    Invitrogen Antibodies for MSH2
    Millipore Mono- and Polyclonal Antibodies for the study of MSH2
    Sigma-Aldrich Antibodies for MSH2
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for MSH2 
    Antibodies from Abcam (MSH2), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (MSH2)
    Novus Biologicals Antibodies for MSH2

    Assays for MSH2: 
    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

    Protein Domains/
    Families
    for MSH2

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro domains/families (see all 6 ):
     IPR007861 DNA_mismatch_repair_MutS_clamp
     IPR007860 DNA_mismatch_repair_MutS_connt
     IPR000432 DNA_mismatch_repair_MutS_C
     IPR007696 DNA_mismatch_repair_MutS_core
     IPR011184 DNA_mismatch_repair_MSH2


       GeneDecks  MSH2 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P43246

    ProtoNet protein and cluster: P43246

    1 Blocks protein family: IPB007696 MutS III

    UniProtKB/Swiss-Prot: MSH2_HUMAN, P43246
    Similarity: Belongs to the DNA mismatch repair mutS family

    Gene Function
    for MSH2

    (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 (MSH2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (MSH2)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000251

                  Applied Biosystems Silencer® siRNAs for MSH2

                  Sigma-Aldrich siRNA and siRNA Panels for MSH2  
                         Sigma-Aldrich shRNA Panels and shRNA for MSH2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for MSH2
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000251
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000251
                                     untagged cDNA clone in CMV expression vector: NM_000251 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000251

    UniProtKB/Swiss-Prot: MSH2_HUMAN, P43246
    Function: Component of the post-replicative DNA mismatch repair system (MMR). Forms two different
    heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds
    to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and
    shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide
    insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up
    to 13 nucleotides long. After mismatch binding, MutS alpha or beta 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. In
    melanocytes may modulate both UV-B-induced cell cycle regulation and apoptosis

    Genatlas biochemistry entry for MSH2:
    yeast mutator gene homolog (bacterial mutS),several spliced isoforms,complexing with GTBP (MUTS
    alpha heterodimer),also interacting with HEX1,involved in mismatch repair of displaced loops of 2
    to 4 bases,deleted in sporadic colorectal cancer and in hepatocellular carcinoma with poor
    prognosis

    6 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Msh2):

    cellularhematopoietic systemimmune systemlife span-post-weaning/agingskin/coat/nails
    tumorigenesis

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

    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:0003684 damaged DNA binding IEA--
    GO:0003697contributes to single-stranded DNA binding IDA11809883
    About this table

    Pathways & Interactions
    for MSH2

    (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 MSH2 (Maps provided by GeneGo):
     Role of Brca1 and Brca2 in DNA repair

       GeneDecks  MSH2 for the pathways selected above  
    About GeneDecksing

    1 Millipore Pathway for MSH2
     DNA damage Role of Brca1 and Brca2 in DNA repair

       GeneDecks  MSH2 for the pathways selected above  
    About GeneDecksing

    2 Sigma-Aldrich "Your Favorite Gene" Pathways for  MSH2  (Your Favorite Gene powered by Ingenuity) 
     Purine Metabolism
     Role of BRCA1 in DNA Damage Response

       GeneDecks  MSH2 for the pathways selected above  
    About GeneDecksing

    3 Kegg Pathways  (Kegg details for MSH2):
     hsa03430 Mismatch repair
     hsa05200 Pathways in cancer
     hsa05210 Colorectal cancer

       GeneDecks  MSH2 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  MSH2 


    5/61 Interacting proteins for MSH2 (ENSP000002331463 P432461, 2) via UniProtKB, MINT, and/or STRING (see all 61 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MSH6P527011STRING (score=.999) EBI-355888, EBI-395529
    MSH2P432461EBI-355888, EBI-355888
    MSH3P205851EBI-355888, EBI-1164205
    PTP4A3O753651EBI-355888, EBI-1043866
    EXO1 EXO1 (xeno)P398751EBI-355888, EBI-6738
    About this table

    5/24 Gene Ontology (GO) biological process terms (links to tree view) (see all 24 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701 in utero embryonic development IEA--
    GO:0006119 oxidative phosphorylation IEA--
    GO:0006164 purine nucleotide biosynthetic process IEA--
    GO:0006298 mismatch repair IDA7923193
    GO:0006301 postreplication repair IDA7923193
    About this table

    Drugs & Compounds
    for MSH2

    (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 MSH2
    7 Novoseek chemical compound relationships for MSH2 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    crcs 78.04 5 8137274 (1), 11208710 (1), 15887099 (1), 11306449 (1)
    mononucleotide 76.89 6 17504984 (2), 14871813 (1), 10918391 (1), 9674699 (1) (see all 5)
    o6-methylguanine 53.92 4 10954713 (2), 19047896 (1), 18670349 (1)
    n-methyl-n'-nitrosourea 27.86 1 10954713 (1)
    mnng 27.73 4 14657349 (2), 16085492 (1), 15647386 (1)
    atp 4.22 7 16600868 (3), 9469823 (1)
    proline 0.00 3 12454801 (1), 16199549 (1)
    About this table


    Transcripts
    for MSH2

    (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 (MSH2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (MSH2)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000251

                  Sigma-Aldrich siRNA and siRNA Panels for MSH2  
                         Sigma-Aldrich shRNA Panels and shRNA for MSH2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000251  

    REFSEQ mRNAs for MSH2 gene: 

    NM_000251.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000251  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000251
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000251
                                     untagged cDNA clone in CMV expression vector: NM_000251 

    Additional cDNA sequence: 

    AK222860.1 AK223284.1 AK296831.1 AK297763.1 AK299667.1 AK304496.1 AK310679.1 AK311330.1 
    BC001122.1 BC012599.1 BC021566.1 BX649122.1 DQ648894.1 DQ648895.1 DQ648896.1 DQ648897.1 
    L47574.1 L47575.1 L47576.1 L47577.1 L47578.1 L47579.1 L47580.1 L47581.1 
    L47582.1 L47583.1 U03911.1 U04045.1 

    9 DOTS entries:

    DT.416491  DT.100807952  DT.100807950  DT.206918  DT.92436431  DT.102824275  DT.120985251  DT.416492 
    DT.95135588 

    24/204 AceView cDNA sequences (see all 204 ):

    BU620631 BQ007395 BX649122 CB135120 BM543463 AW576363 AA767018 BM475467 
    BC021566 AU133333 L47576 AI792246 AA679697 BQ322983 BQ431632 R20430 
    BP349795 BM796343 CB250419 L47583 AI948706 CN483366 BQ225922 U03911 

    highest scoring ESTs for MSH2:

    U03911 AA219061 AA502616 AA694467 AA700106 AA767018 AA767168 AA970623 AA994923 AI241085 

    Unigene Cluster for MSH2:

    MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
    Hs.597656  [show with all ESTs]
    Unigene Representative Sequence: AK223284


    GeneLoc Exon Structure

    4 Ensembl transcripts including schematic representations:
    ENST00000394794  ENST00000394792  ENST00000406134  ENST00000233146  

    Expression
    for MSH2

    (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

    MSH2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for MSH2

    1 / 2 / 3

    5 probe-sets matching MSH2 gene


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

    		86665_at2, 3 U95-D 1 1.00 1.00 0.71 0.97 AA587597 0.60 0.83 0.73 1
    860_at2, 3 U95-A 1 1.00 1.00 0.93 1.14 U03911 1.00 1.00 1.00 1

    		861_g_at2, 3 U95-A 1 1.00 1.00 0.90 0.89 U03911 1.00 1.00 1.00 1

    		209421_at2, 3 U133-A 1 1.00 1.00 -- -- U04045 0.80 1.00 0.91 1

    		209421_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  MSH2 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: TAGTTTGTGG

    SOURCE GeneReport for Unigene cluster: Hs.597656

    Expression variation in blood from EXPOLDB for MSH2

    UniProtKB/Swiss-Prot: MSH2_HUMAN, P43246
    Tissue specificity: Ubiquitously expressed

    Orthologs
    for MSH2

    (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 MSH2 gene from 5/23 species (see all 23 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 MSH21   -- mutS homolog 2, colon cancer, nonpolyposis type 1 (E. more 93.29(n)
    96.15(a)    		 494002  XM_538482.2  XP_538482.2 
    cow
    (Bos taurus)    		 MSH21   -- mutS homolog 2, colon cancer, nonpolyposis type 1 (E. more 91.68(n)
    95.39(a)    		 533115  NM_001034584.1  NP_001029756.1 
    rat
    (Rattus norvegicus)    		 Msh21   -- mutS homolog 2 (E. coli) 86.22(n)
    91.73(a)    		 81709  NM_031058.1  NP_112320.1 
    mouse
    (Mus musculus)    		 Msh21, 5 17 (45.90 cM)5
    		 mutS homolog 2 (E. coli)1, 5 86.97(n)1
    92.8(a)1    		 176851  NM_008628.21  NP_032654.11 
     AI7889905  AK1578425  (see all 13)
    chicken
    (Gallus gallus)    		 MSH21   -- mutS homolog 2, colon cancer, nonpolyposis type 1 (E. more 76.41(n)
    81.84(a)    		 378799  XM_426110.2  XP_426110.2 
    About this table        Species with no ortholog for MSH2

    ENSEMBL Gene Tree for MSH2

    Paralogs
    for MSH2

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for MSH2 gene
    MSH42  MSH52  

    SNPs/Variants
    for MSH2

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


    10/1229 NCBI SNPs in MSH2 are shown (see all 1229 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 153)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs18633321,2
    		C,F,H,O47483402(-) AACAAA/CAAAAA 1 -- ng51 trp316Minor allele frequency- C:0.15MN NS EU EA WA 1848
    rs126129081,2
    		A,C,H47481793(+) TCCCCC/TCCCAC 1 -- ng514Minor allele frequency- T:0.00EU EA WA 418
    --
    rs18633331,2
    		A,C,F47483108(-) gagaaG/Aattca 1 -- ng511Minor allele frequency- A:0.45NS 154
    rs49871881,2
    		C,F,H47496961(+) CACTGG/ACTCTC 1 D/G mis1 ese314Minor allele frequency- A:0.01MN CSAM EA NS EU WA 1412
    --
    rs67573101,2
    		A,C,F47482328(+) atcttG/Cgctca 1 -- ng511Minor allele frequency- C:0.43NS 140
    --
    rs172250671,2
    		C,F47563932(+) CTCAGA/GGACCT 1 -- ng317Minor allele frequency- G:0.00NS 786
    rs18001521,2
    		C,H47555825(+) AGGCAT/GGCTTG 1 Q/H mis1 ese310Minor allele frequency- G:0.00MN CSAM EA EU WA 998
    --
    rs172240731,2
    		C,F47482802(+) TTTGTA/GTTTTT 1 -- ng511Minor allele frequency- G:0.01NS 162
    rs23034251,2
    		C,F47483717(+) GCTGAT/CTGGGT 1 -- ng514Minor allele frequency- C:0.15EA NS MN 2024
    rs172177721,2
    		C,F47490750(+) TGGCAA/GTCTCT 1 N/S mis17Minor allele frequency- G:0.03NS 824
    About this table

    HapMap Linkage Disequilibrium images for MSH2 (up to first 250kb)

    Disorders & Mutations
    for MSH2

    (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: 609309   disorders: 120435  158320  276300  

    UniProtKB/Swiss-Prot: MSH2_HUMAN, P43246

  • Defects in MSH2 are the cause of hereditary non-polyposis colorectal cancer type 1
    (HNPCC1) [MIM:120435]. 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. The term "suspected HNPCC" or "incomplete HNPCC" can
    be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in
    whom a genetic basis for colon cancer is strongly suspected. MSH2 mutations may predispose to
    hematological malignancies and multiple cafe-au-lait spots
  • Defects in MSH2 are a cause of Muir-Torre syndrome (MTS) [MIM:158320]. MTS is a rare
    autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy
  • Defects in MSH2 are a cause of susceptibility to endometrial cancer [MIM:608089]

    • 10/77 Novoseek disease relationships for MSH2 gene (see all 77 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    microsatellite instability 96.09 129 11601928 (4), 8993979 (3), 10190329 (2), 15945244 (2) (see all 99)
    lynch syndrome 95.78 56 18999873 (2), 17003395 (2), 19098912 (2), 17628916 (2) (see all 43)
    colorectal cancer 92.15 545 16331552 (5), 15782118 (5), 8993979 (5), 15943554 (4) (see all 99)
    muir-torre syndrome 90.26 17 17051350 (2), 11231323 (2), 18270343 (2), 16826164 (1) (see all 13)
    hereditary nonpolyposis colon cancer 87.43 10 18999873 (1), 11409565 (1), 16237223 (1), 16395668 (1) (see all 10)
    endometrial cancer 82.34 44 16803540 (3), 16985024 (3), 17925543 (2), 17987798 (2) (see all 28)
    germ-line mutation 80.07 32 11093816 (3), 18331697 (3), 9709044 (2), 15872200 (2) (see all 22)
    colorectal carcinoma 74.63 27 9087566 (3), 15025965 (2), 19398597 (1), 11391585 (1) (see all 23)
    cancer 70.05 144 9841970 (5), 16106253 (5), 11600610 (4), 11376026 (3) (see all 89)
    colon cancer 68.20 22 8880570 (2), 15059910 (1), 15780936 (1), 15837969 (1) (see all 18)
    About this table

    GeneTests: MSH2
    Hereditary Non-Polyposis Colon Cancer

    Human Gene Mutation Database: MSH2
    Genetic Association Database: MSH2
    Human Genome Epidemiology Navigator: MSH2 (129 documents)

    Medical News
    for MSH2

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

    Publications
    for MSH2

    (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

    		10/882 PubMed articles for MSH2 gene (see all 882 ):

    Search for MSH2

    (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)

    Genome Databases showing MSH2

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 4436 HGNC: 7325 AceView: MSH2 Ensembl:ENSG00000095002 euGenes: HUgn4436
    ECgene: MSH2 H-InvDB: MSH2

    Other Databases showing MSH2

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing MSH2

    (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 MSH2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.genetests.org/query?gene=MSH2
    Hereditary non-polyposis colorectal cancer dbhttp://www.nfdht.nl/
    NIEHS-SNPshttp://egp.gs.washington.edu/data/msh2/

    Licensable Technologies
    for MSH2

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for MSH2

    (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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