Show Advanced Search
""
""

Advanced Search (alpha)

""
 
Search By
Section
for


Category   Symbol Source: HGNC EntrezGene Ensembl
GIFtS
Search by expression pattern


MSH2 Gene

protein-coding   GIFtS: 71

GC02P047630
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 gene

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

  User Feedback
Aliases & Descriptions
mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)1 2     COCA12 5
HNPCC11 2 5     FCC12 5
HNPCC1 2     mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)1
MutS protein homolog 22 3     DNA mismatch repair protein Msh22
hMSH22 3     LCFS22

External Ids:    HGNC: 73251   Entrez Gene: 44362   Ensembl: ENSG000000950027   UniProtKB: P432463   

Search outside databases for aliases for MSH2 gene

Previous GC identifers: GC02P047648 GC02P047798 GC02P047604 GC02P047541

Summaries
for MSH2 gene

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

  User Feedback		 Entrez Gene 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 Views
for MSH2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
About This Section

  User Feedback		 Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the MSH2 gene upstream (promoter) region "":
AP-1   Egr-1   c-Myc   Max   HNF-4alpha2   Max1   c-Fos   c-Jun   GATA-3   COUP-TF1   

Epigenetics:
"" SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for MSH2:  ""
MePH28242-1A   

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

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 GC02P047630:  view genomic region     (about GC identifiers)

Start:
 47,630,108 bp from pter
End:
 47,789,450 bp from pter
Size:
 159,343 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  

Proteins
for MSH2 gene

(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 Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

  User Feedback		 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. Interacts with BTBD12/SLX4; this interaction is direct and links MutS beta to SLX4, a subunit of different
structure-specific endonucleases
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: 
    ENSP00000389452 ENSP00000402969 ENSP00000378274 ENSP00000378272 ENSP00000415023 ENSP00000390362 
    ENSP00000395752 ENSP00000391195 ENSP00000411482 ENSP00000384199 ENSP00000233146 


    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
    ""HuPro® and/or Recombinant Proteins from Abnova for MSH2 ""
    ""Browse Origene full length recombinant human proteins expressed in human HEK293 cells
    ""Novus Biologicals Proteins for MSH2  ""
    Novus Biologicals Lysates for MSH2
    ""Browse Sino Biological Recombinant Proteins  ""

    3 Gene Ontology (GO) cellular component terms (GO ID 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

    "" MSH2 for ontologies           About GeneDecksing



    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 
    ""Monoclonal and Polyclonal Antibodies from Abnova (MSH2)
    ""Browse Origene Antibodies ""
    ""Novus Biologicals Antibodies for MSH2
    ""Epitomics antibodies for MSH2

    Assays for MSH2: 
    ""Browse Kits and Assays available from Millipore
    ""Browse ELISAs at Sigma-Aldrich
    "" Browse R&D Systems for biochemical assays
    ""Browse Enzo Life Sciences for kits & assays

    Protein Domains/
    Families
    for MSH2 gene

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

      User Feedback
    "" MSH2 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
     IPR011184 DNA_mismatch_repair_MSH2
     IPR007860 DNA_mismatch_repair_MutS_connt

    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 gene

    (According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (MSH2)
    "" Origene 29mer shRNA kits in GFP-retroviral vector: MSH2
    Origene shRNA RFP: MSH2
    Origene basic RS shRNA: MSH2

    ""Applied Biosystems Silencer® siRNAs for MSH2
    ""Sigma-Aldrich siRNA Panels and esiRNA and siRNA for MSH2
    Sigma-Aldrich shRNA Panels and shRNA for MSH2
    Explore Sigma-Aldrich super-pooled esiRNAs
    Clones:""Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    ""Browse iPSC Reprogramming Factors at Sigma-Aldrich
    "" Origene GFP tagged cDNA clones in CMV expression vector: MSH2
    Origene Myc/DDK tagged cDNA clones in CMV expression vector: MSH2
    Origene untagged cDNA clones in CMV expression vector: MSH2
    ""Browse Sino Biological Human cDNA Clones  ""

    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

    5/23 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 23 ):

    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:0003677 DNA binding IDA7923193
    GO:0003684 damaged DNA binding IEA--
    About this table

    "" MSH2 for ontologies           About GeneDecksing

    Animal Models: 10 MGI mutant phenotypes (inferred from 7 alleles"") (MGI details for Msh2):

    cellulardigestive/alimentaryhematopoietic systemhomeostasis/metabolismimmune system
    lethality-postnatallife span-post-weaning/agingnervous systemskin/coat/nailstumorigenesis

    "" MSH2 for phenotypes           About GeneDecksing

    Pathways & Interactions
    for MSH2 gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
    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 May 2010 via Entrez Gene).
    About This Section

      User Feedback
    "" MSH2 for pathways           About GeneDecksing

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

    5 "" Sigma-Aldrich "Your Favorite Gene" Pathways for  MSH2  (Your Favorite Gene powered by Ingenuity)
      ""  Ovarian Cancer Signaling
    Role of BRCA1 in DNA Damage Response
    Hereditary Breast Cancer Signaling
    Colorectal Cancer Metastasis Signaling
    Purine Metabolism

    5 "" GeneAssist Pathways for MSH2
      ""  DNA Repair Mechanism
    Colorectal Cancer Metastasis
    Mismatch Repair Pathway in Eukaryotes
    Developmental Phases of Colorectal Cancer
    BRCA1 Pathway

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

    "" SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MSH2

    5/14 Interacting proteins for MSH2 (ENSP000002331463 P432461, 2) via UniProtKB, MINT, and/or STRING (see all 14 ) ""
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MSH6P527011STRING: ENSP00000234420 EBI-355888,EBI-395529
    BTBD12Q8IY921EBI-355888,EBI-2370740
    MSH2P432461EBI-355888,EBI-355888
    MSH3P205851EBI-355888,EBI-1164205
    PTP4A3O753651EBI-355888,EBI-1043866
    About this table

    5/28 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 28 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701 in utero embryonic development IEA--
    GO:0006119 oxidative phosphorylation IEA--
    GO:0006281 DNA repair IDA8942985
    GO:0006298 mismatch repair IDA7923193 11555625
    GO:0006301 postreplication repair IDA7923193
    About this table

    "" MSH2 for ontologies           About GeneDecksing


    Drugs & Compounds
    for MSH2 gene

    (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

      User Feedback
    "" MSH2 for compounds           About GeneDecksing

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

    "" Browse Tocris compounds for MSH2
    10/72 ""Novoseek chemical compound relationships for MSH2 gene (see all 72 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    exo 1 15.21 8 11438669 (2), 9628902 (1), 15743825 (1), 12713814 (1) (see all 7)
    mononucleotide 15.13 10 17504984 (2), 9674699 (1), 14871813 (1), 14574004 (1) (see all 9)
    6 thioguanine 11.05 12 20025921 (3), 11059773 (3), 9600339 (1), 9485033 (1) (see all 8)
    iododeoxyuridine 9.80 10 14500385 (7), 11059773 (3)
    o6-methylguanine 6.17 7 10954713 (2), 20025921 (1), 19047896 (1), 18670349 (1) (see all 6)
    mnng 4.25 8 14657349 (2), 9434879 (1), 18262734 (1), 16085492 (1) (see all 7)
    chr-2 4.19 2 10751599 (2)
    temozolomide 3.31 6 20025921 (3), 19741564 (1), 19127257 (1), 11138465 (1)
    phip 3.23 5 11593414 (5)
    n-methyl-n-nitrosourea 3.03 6 11044352 (2), 9448296 (1), 12185594 (1), 10954713 (1) (see all 5)
    About this table


    Transcripts
    for MSH2 gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 223 Homo sapiens; Apr 2 2010) 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 Millipore and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
    Expression Assays from Applied Biosystems)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (MSH2)
    ""Applied Biosystems Silencer® siRNAs:  NM_000251  
    "" Origene 29mer shRNA kits in GFP-retroviral vector: MSH2
    Origene shRNA RFP: MSH2
    Origene basic RS shRNA: MSH2

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

    microRNA:""Search SABiosciences for microRNAs that regulate MSH2: ""
    Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
    NM_000251  


    Clones:"" Origene GFP tagged cDNA clones in CMV expression vector: MSH2
    Origene Myc/DDK tagged cDNA clones in CMV expression vector: MSH2
    Origene untagged cDNA clones in CMV expression vector: MSH2
    Primers:"" Origene genome-wide validated SYBR primer pairs: MSH2
    ""SABiosciences RT2 qPCR Primer Assay for MSH2: PPH00197A ""

    REFSEQ mRNAs for MSH2 gene: 

    NM_000251.1  

    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 ):

    AU124367 BE550379 F06122 U03911 BM763059 BC001122 BU620631 AI627194 
    BX649122 AU133333 BP349795 AI792246 L47576 BQ431632 R20430 BM784479 
    U04045 AI341214 BQ007395 BU178986 AU131477 BM457765 BM834569 F02380 

    "" 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

    13 Ensembl transcripts including schematic representations:
    ENST00000422810  ENST00000413880  ENST00000394794  ENST00000394792  ENST00000448533  ENST00000453755  
    ENST00000432737  ENST00000419559  ENST00000467323  ENST00000461394  ENST00000454849  ENST00000406134  
    ENST00000233146  

    Expression
    for MSH2 gene

    (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 223 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, Primers from OriGene and/or SABiosciences )
    About This Section

      User Feedback

    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
    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
    86665_at2, 3 U95-D 1 0.88 1.00 0.71 0.97 AA587597 0.60 0.83 0.73 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 -- -- -- -- -- -- --
    About this table

    "" MSH2 for expression           About GeneDecksing

    Data from Genenote  (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

    Primers:"" Origene genome-wide validated SYBR primer pairs: MSH2 ""
    ""SABiosciences RT2 qPCR Primer Assay for MSH2: PPH00197A ""

    Orthologs
    for MSH2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

      User Feedback
    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 14)
    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 gene

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

      User Feedback    		  --

    Genomic Variants
    for MSH2 gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
    About This Section

      User Feedback
    10/136 NCBI SNPs in MSH2 are shown (see all 136 )
    (Click "" for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 91)
    ABGenomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    --
    rs67573101,2
    		C,F,A47365788(+) atcttG/Cgctca 1 -- ng51""3Minor allele frequency- C:0.42NS NA 144""
    ""
    rs49871881,2
    		C,F,H47643457(+) CACTGG/ACTCTC 2 /D /G mis1 ref1 ese3""15Minor allele frequency- A:0.01MN NS EA NA 1484""
    --
    rs18633331,2
    		C,F,A47366568(-) gagaaG/Aattca 1 -- ng51""6Minor allele frequency- A:0.38NS NA EA WA 368""
    ""
    rs18633321,2
    		C,F,O47366862(-) AACAAA/CAAAAA 1 -- ng51 trp3""19Minor allele frequency- C:0.14MN NS EA NA WA 2058""
    ""
    rs23034251,2
    		C,F47367177(+) GCTGAT/CTGGGT 1 -- ng51""6Minor allele frequency- C:0.15EA NS MN NA 2184""
    --
    rs18001521,2
    		C47702321(+) AGGCAT/GGCTTG 2 /Q /H mis1 ref1 ese3""10Minor allele frequency- G:0.00MN NS EA 998""
    --
    rs18001511,2
    		C,F47637439(+) CTCCTC/TATCCA 2 L ref1 syn1""3Minor allele frequency- T:0.04NS NA WA 276""
    ""
    rs49871891,2
    		C,F47643476(+) GCTGCC/TTTGCT 2 A ref1 syn1 ese3""7Minor allele frequency- T:0.01MN NS 692""
    --
    rs18001501,2
    		C47635547(+) GCAAAA/GAATCT 2 K syn1 ref1""0--------
    --
    rs20426491,2
    		C,F,O,A,H47445177(+) AAATAT/CGTTCT 1 -- int1""10Minor allele frequency- C:0.24NS EA NA 720""
    About this table

    HapMap Linkage Disequilibrium images for MSH2 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)  ""
    Database of Genomic Variants (DGV): 1 variation for MSH2
         1 Indel: 41311

    Disorders & Mutations
    for MSH2 gene

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

      User Feedback
    "" MSH2 for disorders           About GeneDecksing

    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]

    • 10/220 ""Novoseek disease relationships for MSH2 gene (see all 220 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    colorectal cancer 100.00 340 16331552 (6), 15222003 (5), 12595050 (5), 8993979 (4) (see all 100)
    hnpcc 100.00 428 20388775 (8), 12920342 (6), 8198129 (5), 8993976 (4) (see all 100)
    microsatellite instability 100.00 281 15922421 (5), 12627520 (5), 15492498 (4), 14646573 (4) (see all 100)
    germline mutation 100.00 244 19109866 (6), 11859205 (5), 8946971 (4), 20388775 (4) (see all 100)
    msi-h 87.55 48 12118112 (8), 16106253 (5), 15342696 (4), 19109866 (3) (see all 27)
    muir-torre syndrome 67.94 32 14752307 (3), 11859205 (3), 18270343 (2), 18065960 (2) (see all 19)
    endometrial cancer 49.33 62 11391585 (5), 16985024 (3), 16803540 (3), 15222003 (3) (see all 44)
    sebaceous neoplasm 29.58 14 19069357 (4), 19342947 (2), 14752307 (2), 11231323 (2) (see all 8)
    replication error 29.14 19 9674699 (4), 9071575 (3), 10448273 (3), 9087566 (2) (see all 11)
    colorectal tumor 14.95 15 19861524 (3), 11150379 (2), 9674699 (1), 9490293 (1) (see all 12)
    About this table

    GeneTests: MSH2
    Hereditary Non-Polyposis Colon Cancer

    Locus Specific Mutation Databases: MSH2
    Human Gene Mutation Database: MSH2
    Genetic Association Database: MSH2
    Human Genome Epidemiology Navigator: MSH2 (157 documents)

    Medical News
    for MSH2 gene

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

      User Feedback

    Publications
    for MSH2 gene

    (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

      User Feedback    		10/944 PubMed articles for MSH2 gene (see all 944 ):

    Search for MSH2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

      User Feedback
     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 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

      User Feedback
    Entrez Gene: 4436 HGNC: 7325 AceView: MSH2 Ensembl:ENSG00000095002 euGenes: HUgn4436
    ECgene: MSH2 Kegg: 4436 H-InvDB: MSH2

    Other Databases showing MSH2 gene

    (According to HUGE)
    About This Section

      User Feedback    		   --

    Specialized Databases showing MSH2 gene

    (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

      User Feedback
    NameDescription
    ATLAS Chromosomes in Cancer entry for MSH2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MSH2
    Hereditary non-polyposis colorectal cancer dbhttp://www.nfdht.nl/
    NIEHS-SNPshttp://egp.gs.washington.edu/data/msh2/

    Intellectual Property
    for MSH2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section

      User Feedback    		Patent Information for MSH2 gene: ""
    Search GeneIP for patents involving MSH2

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


    Services
    for MSH2 gene

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

      User Feedback    		""
    ""
    Products for MSH2:
    "" TaqMan ® Gene Expression Assays
    "" TaqMan ® Genotyping Assays
    		 "" Free SNP selection tool

    ""
    "" Millipore Custom Antibody & Bulk Services
    "" Millipore Preclinical / Clinical Development Services
    "" Millipore Immunoassay Services
    "" Millipore Target Screening & Profiling Services

    ""
    "" Predesigned and custom siRNAs for MSH2"" Antibodies for MSH2
    "" Explore super-pooled esiRNAs"" Browse proteins at Sigma-Aldrich
    "" Lentivirus-delivered shRNAs for MSH2"" Browse small molecules at Sigma-Aldrich
    "" "Your Favorite Gene" Pathways"" Browse ELISAs at Sigma-Aldrich
    "" Browse iPSC Reprogramming Factors at Sigma-Aldrichfeedback


     ""  ""
    "" Antibodies  "" Primer Pairs  
    "" Cell Culture Products  "" ELISAs  
    "" Flow Cytometry Kits  "" Protease Activity Assays & Reagents  
    "" Cell Selection/Detection Kits & Reagents  "" ELISA/Assay Development Kits & Reagents  
    "" Multiplex/Array Assay Kits & Reagents  "" ELISpot Kits & Development Modules  
    "" Recombinant & Natural Proteins  

    "" Recombinant Proteins (MSH2)
    "" Antibodies (MSH2)
    "" Chimera RNAi (MSH2)
    "" Custom Service for Mouse Mab
    "" Custom Service for Rabbit Pab from Full-length Protein


    """"""""
    "" Antibodies & Assays for MSH2 

    "" Tagged/untagged cDNA clones
    "" Validated SYBR primer pairs
    "" Purified proteins from HEK293T cells
    "" Western blot validated antibodies
    "" shRNA in GFP-retroviral vector
    "" Custom immunoassay development
    "" Search Tocris compounds for MSH2
    "" Regulatory tfbs in MSH2 upstream (promoter) region
    "" Search Chromatin IP Primers for MSH2
    "" DNA Methylation qPCR Primer Assays for MSH2
    "" RT2 qPCR Primer Assay for MSH2
    "" GNC Network for MSH2
    "" Search for microRNAs that regulate MSH2
    """"""""
    "" Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
    "" Novus Tissue Slides
    "" Antibodies for MSH2
    "" Proteins for MSH2
    "" Lysates for MSH2
    "" Antibodies for MSH2
    "" Browse Sino Biological Proteins and Antibodies
    "" Browse Sino Biological cDNA Clones
    "" Antibodies/Proteins Production Services
    "" Rabbit Monoclonal Antibody Platform
    "" Bulk Purchasing
      User Feedback        

    GeneCards Homepage - Last full update: 21 May 2010 - Incremental updates: 24 May 2010 , 20 Jun 2010

    View Random Gene

    Category
    acyl-CoA synthetase family member 3
    GIFtS Group
    The GeneCards human gene database gene index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2010 , Weizmann Institute of Science. All Rights Reserved.
    msh2 gene at Home site.
    hostname: server4.xennexinc.com db build: 72 index build: 72d solr: 1.4