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Aliases for MSH2 Gene

Aliases for MSH2 Gene

  • MutS Homolog 2 2 3
  • HNPCC1 3 6
  • COCA1 3 6
  • HMSH2 3 4
  • FCC1 3 6
  • MutS (E. Coli) Homolog 2 (Colon Cancer, Nonpolyposis Type 1) 2
  • MutS Homolog 2, Colon Cancer, Nonpolyposis Type 1 (E. Coli) 2
  • MutS Homolog 2, Colon Cancer, Nonpolyposis Type 1 3
  • DNA Mismatch Repair Protein Msh2 3
  • MutS Protein Homolog 2 4
  • HNPCC 3
  • LCFS2 3

External Ids for MSH2 Gene

Previous HGNC Symbols for MSH2 Gene

  • COCA1

Previous GeneCards Identifiers for MSH2 Gene

  • GC02P047648
  • GC02P047798
  • GC02P047604
  • GC02P047541
  • GC02P047630
  • GC02P047367

Summaries for MSH2 Gene

Entrez Gene Summary for MSH2 Gene

  • This locus is 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

GeneCards Summary for MSH2 Gene

MSH2 (MutS Homolog 2) is a Protein Coding gene. Diseases associated with MSH2 include muir-torre syndrome and colorectal cancer, hereditary nonpolyposis, type 1. Among its related pathways are Pathways in cancer and Cell Cycle / Checkpoint Control. GO annotations related to this gene include protein homodimerization activity and enzyme binding.

UniProtKB/Swiss-Prot for MSH2 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MSH2 Gene

Genomics for MSH2 Gene

Regulatory Elements for MSH2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MSH2 Gene

Start:
47,402,969 bp from pter
End:
47,562,311 bp from pter
Size:
159,343 bases
Orientation:
Plus strand

Genomic View for MSH2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MSH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MSH2 Gene

Proteins for MSH2 Gene

  • Protein details for MSH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43246-MSH2_HUMAN
    Recommended name:
    DNA mismatch repair protein Msh2
    Protein Accession:
    P43246
    Secondary Accessions:
    • B4E2Z2
    • O75488

    Protein attributes for MSH2 Gene

    Size:
    934 amino acids
    Molecular mass:
    104743 Da
    Quaternary structure:
    • 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 SLX4/BTBD12; this interaction is direct and links MutS beta to SLX4, a subunit of different structure-specific endonucleases. Interacts with SMARCAD1.
    SequenceCaution:
    • Sequence=AAC27930.1; Type=Frameshift; Positions=417; Note=The frameshift is caused by a single nucleotide deletion which is found in a HNPCC kindred.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MSH2 Gene

    Alternative splice isoforms for MSH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MSH2 Gene

Proteomics data for MSH2 Gene at MOPED

Post-translational modifications for MSH2 Gene

  • Phosphorylated by PRKCZ, which may prevent MutS alpha degradation by the ubiquitin-proteasome pathway.
  • Ubiquitination at Lys73 and Lys882
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MSH2 (MSH2)

No data available for DME Specific Peptides for MSH2 Gene

Domains for MSH2 Gene

Graphical View of Domain Structure for InterPro Entry

P43246

UniProtKB/Swiss-Prot:

MSH2_HUMAN :
  • P43246
Family:
  • Belongs to the DNA mismatch repair MutS family.
genes like me logo Genes that share domains with MSH2: view

No data available for Gene Families for MSH2 Gene

Function for MSH2 Gene

Molecular function for MSH2 Gene

GENATLAS Biochemistry: 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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for MSH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 contributes_to magnesium ion binding IDA 16403449
GO:0000400 contributes_to four-way junction DNA binding IDA 12034830
GO:0000403 Y-form DNA binding IBA --
GO:0000404 heteroduplex DNA loop binding IBA --
GO:0000406 double-strand/single-strand DNA junction binding IBA --
genes like me logo Genes that share ontologies with MSH2: view
genes like me logo Genes that share phenotypes with MSH2: view

Animal Models for MSH2 Gene

MGI Knock Outs for MSH2:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MSH2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for MSH2 Gene

Localization for MSH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MSH2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MSH2 Gene COMPARTMENTS Subcellular localization image for MSH2 gene
Compartment Confidence
nucleus 4
mitochondrion 2

Gene Ontology (GO) - Cellular Components for MSH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IBA --
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0016020 membrane IDA 19946888
GO:0032301 MutSalpha complex IDA 23622243
genes like me logo Genes that share ontologies with MSH2: view

Pathways for MSH2 Gene

genes like me logo Genes that share pathways with MSH2: view

Pathways by source for MSH2 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for MSH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000710 meiotic mismatch repair IBA --
GO:0001701 in utero embryonic development IEA --
GO:0002204 somatic recombination of immunoglobulin genes involved in immune response --
GO:0006119 oxidative phosphorylation IEA --
GO:0006200 obsolete ATP catabolic process --
genes like me logo Genes that share ontologies with MSH2: view

Compounds for MSH2 Gene

(22) Novoseek inferred chemical compound relationships for MSH2 Gene

Compound -log(P) Hits PubMed IDs
crcs 77.9 5
mononucleotide 76.4 6
o6-methylguanine 55 4
6 thioguanine 35.8 2
temozolomide 29.2 3
genes like me logo Genes that share compounds with MSH2: view

Transcripts for MSH2 Gene

Unigene Clusters for MSH2 Gene

MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MSH2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MSH2 Gene

No ASD Table

Relevant External Links for MSH2 Gene

GeneLoc Exon Structure for
MSH2
ECgene alternative splicing isoforms for
MSH2

Expression for MSH2 Gene

mRNA expression in normal human tissues for MSH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MSH2 Gene

SOURCE GeneReport for Unigene cluster for MSH2 Gene Hs.597656

mRNA Expression by UniProt/SwissProt for MSH2 Gene

P43246-MSH2_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expressions with MSH2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for MSH2 Gene

Orthologs for MSH2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MSH2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MSH2 35
  • 91.68 (n)
  • 95.39 (a)
MSH2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MSH2 35
  • 93.29 (n)
  • 96.15 (a)
MSH2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Msh2 35
  • 86.97 (n)
  • 92.8 (a)
Msh2 16
Msh2 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 81 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
-- 36
  • 32 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MSH2 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Msh2 35
  • 86.22 (n)
  • 91.73 (a)
chicken
(Gallus gallus)
Aves MSH2 35
  • 76.41 (n)
  • 81.84 (a)
MSH2 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MSH2 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia msh2 35
  • 73.74 (n)
  • 78.69 (a)
zebrafish
(Danio rerio)
Actinopterygii msh2 35
  • 67.28 (n)
  • 73.18 (a)
msh2 36
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010282 35
  • 51.08 (n)
  • 43.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta spel1 35
  • 51.02 (n)
  • 45.97 (a)
spel1 36
  • 42 (a)
OneToOne
spel1 37
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea msh-2 36
  • 31 (a)
OneToOne
msh-2 37
  • 30 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR603C 35
  • 52.76 (n)
  • 47.64 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSH2 35
  • 53.54 (n)
  • 44.64 (a)
MSH2 36
  • 40 (a)
OneToOne
MSH2 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F02706g 35
  • 51.23 (n)
  • 44.01 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons MSH2 35
  • 51.24 (n)
  • 43.69 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.2199 35
corn
(Zea mays)
Liliopsida Zm.215 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02230 35
  • 50.83 (n)
  • 49.32 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes msh2 35
  • 52.24 (n)
  • 43.73 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5956 36
  • 49 (a)
OneToOne
Species with no ortholog for MSH2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MSH2 Gene

ENSEMBL:
Gene Tree for MSH2 (if available)
TreeFam:
Gene Tree for MSH2 (if available)

Paralogs for MSH2 Gene

genes like me logo Genes that share paralogs with MSH2: view

No data available for Paralogs for MSH2 Gene

Variants for MSH2 Gene

Sequence variations from dbSNP and Humsavar for MSH2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs756561 -- 47,402,210(+) gtggc(A/G)caatt upstream-variant-2KB
rs756562 -- 47,402,474(+) tcata(C/T)tagaa upstream-variant-2KB
rs876936 -- 47,513,059(+) TGATA(G/T)GTACA downstream-variant-500B
rs1800150 Uncertain significance 47,408,408(+) GCAAA(A/G)AATCT synonymous-codon, reference
rs1800151 Benign 47,410,300(+) CTCCT(C/T)ATCCA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for MSH2 Gene

Variant ID Type Subtype PubMed ID
nsv527823 CNV Gain 19592680
esv2720024 CNV Deletion 23290073
esv2291090 CNV Deletion 18987734
esv3890 CNV Deletion 18987735
esv2720025 CNV Deletion 23290073
esv995811 CNV Deletion 20482838
esv1070809 CNV Deletion 17803354

Relevant External Links for MSH2 Gene

HapMap Linkage Disequilibrium report
MSH2
Human Gene Mutation Database (HGMD)
MSH2
Locus Specific Mutation Databases (LSDB)
MSH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MSH2 Gene

Disorders for MSH2 Gene

(3) OMIM Diseases for MSH2 Gene (609309)

UniProtKB/Swiss-Prot

MSH2_HUMAN
  • Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors 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. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by 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. {ECO:0000269 PubMed:10375096, ECO:0000269 PubMed:10386556, ECO:0000269 PubMed:10528862, ECO:0000269 PubMed:10573010, ECO:0000269 PubMed:10612836, ECO:0000269 PubMed:10777691, ECO:0000269 PubMed:10829038, ECO:0000269 PubMed:11726306, ECO:0000269 PubMed:11870161, ECO:0000269 PubMed:11920458, ECO:0000269 PubMed:12112654, ECO:0000269 PubMed:12124176, ECO:0000269 PubMed:12132870, ECO:0000269 PubMed:12200596, ECO:0000269 PubMed:12362047, ECO:0000269 PubMed:12373605, ECO:0000269 PubMed:12655564, ECO:0000269 PubMed:12655568, ECO:0000269 PubMed:12658575, ECO:0000269 PubMed:14635101, ECO:0000269 PubMed:15046096, ECO:0000269 PubMed:15300854, ECO:0000269 PubMed:15342696, ECO:0000269 PubMed:15365995, ECO:0000269 PubMed:15613555, ECO:0000269 PubMed:15870828, ECO:0000269 PubMed:15896463, ECO:0000269 PubMed:15991316, ECO:0000269 PubMed:15996210, ECO:0000269 PubMed:16451135, ECO:0000269 PubMed:17101317, ECO:0000269 PubMed:17128465, ECO:0000269 PubMed:18561205, ECO:0000269 PubMed:18625694, ECO:0000269 PubMed:22371642, ECO:0000269 PubMed:7874129, ECO:0000269 PubMed:8261515, ECO:0000269 PubMed:8700523, ECO:0000269 PubMed:8872463, ECO:0000269 PubMed:9048925, ECO:0000269 PubMed:9240418, ECO:0000269 PubMed:9298827, ECO:0000269 PubMed:9311737, ECO:0000269 PubMed:9419403, ECO:0000269 PubMed:9559627, ECO:0000269 PubMed:9718327}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muir-Torre syndrome (MRTES) [MIM:158320]: Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy. {ECO:0000269 PubMed:7713503}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.

(77) Novoseek inferred disease relationships for MSH2 Gene

Disease -log(P) Hits PubMed IDs
lynch syndrome 96.6 85
microsatellite instability 96.2 114
colorectal cancer 92.2 235
muir-torre syndrome 90.8 19
hereditary nonpolyposis colon cancer 86.8 10

Relevant External Links for MSH2

GeneTests
MSH2
GeneReviews
MSH2
Genetic Association Database (GAD)
MSH2
Human Genome Epidemiology (HuGE) Navigator
MSH2
genes like me logo Genes that share disorders with MSH2: view

Publications for MSH2 Gene

  1. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. (PMID: 15342696) Domingo E. … Schwartz S. Jr. (J. Med. Genet. 2004) 3 4 23 48
  2. Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non- polyposis colorectal cancer families. (PMID: 15365995) Shin Y.-K. … Park J.-G. (Hum. Mutat. 2004) 3 4 23
  3. MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylation. (PMID: 14657349) Wang Y. … Qin J. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 23
  4. Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden. (PMID: 14961575) Cederquist K. … Groenberg H. (Int. J. Cancer 2004) 3 23 48
  5. Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis. (PMID: 14645426) Berends M.J. … van der Zee A.G. (J. Clin. Oncol. 2003) 3 23 48

Products for MSH2 Gene

  • Addgene plasmids for MSH2

Sources for MSH2 Gene

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