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Aliases for MSH2 Gene

Aliases for MSH2 Gene

  • MutS Homolog 2 2 3 5
  • HMSH2 3 4
  • 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
  • HNPCC1 3
  • HNPCC 3
  • LCFS2 3
  • COCA1 3
  • FCC1 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]

CIViC summary for MSH2 Gene

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 Mismatch repair and Platinum drug resistance. 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

Enhancers for MSH2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G047342 1.6 Ensembl ENCODE dbSUPER 51.8 -58.0 -58008 5.0 HNRNPUL1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF766 ZNF143 MSH2 EPCAM LOC100506235 BCYRN1 LOC101927043
GH02G047401 1.1 ENCODE 51.7 +0.3 337 3.0 HDGF PKNOX1 FOXA2 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 MSH2 EPCAM PIR36168
GH02G047353 1.5 Ensembl ENCODE dbSUPER 21.9 -45.1 -45071 9.2 HDGF ATF1 FOXA2 ARID4B TCF12 ZNF121 ZNF766 GATA2 FOS SP5 MSH2 EPCAM RN7SKP119
GH02G047533 1.1 Ensembl ENCODE 27.5 +131.5 131532 1.2 ARNT INSM2 SIN3A KLF17 FEZF1 ZNF366 ZSCAN5C FOS TSHZ1 ZNF488 MSH2 HCG2040054 PIR54322
GH02G047065 2.5 VISTA FANTOM5 Ensembl ENCODE dbSUPER 10.6 -330.0 -330033 15.3 MLX DMAP1 YY1 SLC30A9 ZNF143 NFYC TBX21 PPARGC1A MEF2D SSRP1 CALM2 SOCS5 ENSG00000233845 MSH2 TTC7A MCFD2 ENSG00000225187 STPG4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MSH2 on UCSC Golden Path with GeneCards custom track

Promoters for MSH2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000116836 431 2001 HDGF PKNOX1 FOXA2 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for MSH2 Gene

Chromosome:
2
Start:
47,402,969 bp from pter
End:
47,564,579 bp from pter
Size:
161,611 bases
Orientation:
Plus strand

Genomic View for MSH2 Gene

Genes around MSH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MSH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for MSH2 Gene

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

Other Protein References for MSH2 Gene

No data available for DME Specific Peptides for MSH2 Gene

Domains & Families for MSH2 Gene

Gene Families for MSH2 Gene

Graphical View of Domain Structure for InterPro Entry

P43246

UniProtKB/Swiss-Prot:

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

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:0003677 DNA binding IDA 7923193
GO:0003684 damaged DNA binding IEA --
GO:0003690 contributes_to double-stranded DNA binding IDA 11809883
genes like me logo Genes that share ontologies with MSH2: view
genes like me logo Genes that share phenotypes with MSH2: view

Human Phenotype Ontology for MSH2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MSH2 Gene

MGI Knock Outs for MSH2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MSH2

Flow Cytometry Products

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

Localization for MSH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MSH2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MSH2 gene
Compartment Confidence
nucleus 5
plasma membrane 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MSH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IDA 19135898
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0016020 membrane IDA 19946888
GO:0032300 mismatch repair complex IEA --
genes like me logo Genes that share ontologies with MSH2: view

Pathways & Interactions for MSH2 Gene

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

SIGNOR curated interactions for MSH2 Gene

Activates:

Gene Ontology (GO) - Biological Process for MSH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0002204 somatic recombination of immunoglobulin genes involved in immune response IEA --
GO:0006119 oxidative phosphorylation IEA --
GO:0006281 DNA repair IDA 8942985
GO:0006298 mismatch repair TAS --
genes like me logo Genes that share ontologies with MSH2: view

Drugs & Compounds for MSH2 Gene

(24) Drugs for MSH2 Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1551
Folic Acid Approved, Vet_approved Nutra 4392
leucovorin Approved Nutra 3235,1128
Antimetabolites Pharma 12054
Antimetabolites, Antineoplastic Pharma 7361

(11) Additional Compounds for MSH2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MSH2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for MSH2 Gene

Protein differential expression in normal tissues from HIPED for MSH2 Gene

This gene is overexpressed in Lymph node (12.4), Peripheral blood mononuclear cells (8.2), Fetal ovary (7.7), and Bone (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MSH2 Gene



Protein tissue co-expression partners for MSH2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MSH2 Gene:

MSH2

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.

Evidence on tissue expression from TISSUES for MSH2 Gene

  • Blood(4.5)
  • Muscle(4.2)
  • Nervous system(3.9)
  • Intestine(3.6)
  • Lymph node(2.5)
  • Stomach(2.4)
  • Skin(2.2)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MSH2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • epiglottis
  • eye
  • eyelid
  • face
  • head
  • larynx
  • meninges
  • neck
  • skull
  • vocal cord
Thorax:
  • breast
  • esophagus
  • trachea
Abdomen:
  • adrenal gland
  • biliary tract
  • duodenum
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • rectum
  • ureter
  • urethra
  • urinary bladder
  • uterus
Limb:
  • arm
  • upper limb
General:
  • blood
  • bone marrow
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with MSH2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
dog
(Canis familiaris)
Mammalia MSH2 34 35
  • 93.29 (n)
cow
(Bos Taurus)
Mammalia MSH2 34 35
  • 91.68 (n)
mouse
(Mus musculus)
Mammalia Msh2 34 16 35
  • 86.97 (n)
rat
(Rattus norvegicus)
Mammalia Msh2 34
  • 86.22 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 86 (a)
OneToMany
-- 35
  • 81 (a)
OneToMany
-- 35
  • 32 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MSH2 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves MSH2 34 35
  • 76.41 (n)
lizard
(Anolis carolinensis)
Reptilia MSH2 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia msh2 34
  • 73.74 (n)
zebrafish
(Danio rerio)
Actinopterygii msh2 34 35
  • 67.28 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010282 34
  • 51.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta spel1 36 34 35
  • 51.02 (n)
worm
(Caenorhabditis elegans)
Secernentea msh-2 36 35
  • 30 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSH2 34 35 37
  • 53.54 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR603C 34
  • 52.76 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F02706g 34
  • 51.23 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MSH2 34
  • 51.24 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.2199 34
corn
(Zea mays)
Liliopsida Zm.215 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes msh2 34
  • 52.24 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02230 34
  • 50.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5956 35
  • 49 (a)
OneToOne
Species where no ortholog for MSH2 was found in the sources mined by GeneCards:
  • 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

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
rs146421227 Uncertain significance, Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435] 47,482,912(+) CTTTG(A/T)AAATG intron-variant, reference, missense
rs17217772 Uncertain significance, Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435] 47,410,107(+) TGGCA(A/G/T)TCTCT nc-transcript-variant, reference, missense
rs17224367 other, Colorectal cancer (CRC) [MIM:114500], Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435] 47,429,833(+) ACCGA(C/T)TTGCC nc-transcript-variant, reference, missense
rs193922373 Uncertain significance, Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435] 47,408,493(+) TTGAA(A/G)TTTAT nc-transcript-variant, reference, missense
rs201118107 Uncertain significance, Hereditary non-polyposis colorectal cancer 1 (HNPCC1) [MIM:120435] 47,471,051(+) TGTCA(A/C/G/T)TATTT nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv1070809 CNV deletion 17803354
esv2291090 CNV deletion 18987734
esv2720024 CNV deletion 23290073
esv2720025 CNV deletion 23290073
esv3890 CNV loss 18987735
esv995811 CNV deletion 20482838
nsv1004828 CNV gain 25217958
nsv1130750 CNV deletion 24896259
nsv527823 CNV gain 19592680
nsv955113 CNV deletion 24416366
nsv999576 CNV gain 25217958

Variation tolerance for MSH2 Gene

Residual Variation Intolerance Score: 8.66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.09; 61.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MSH2 Gene

Human Gene Mutation Database (HGMD)
MSH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MSH2

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

Disorders for MSH2 Gene

MalaCards: The human disease database

(54) MalaCards diseases for MSH2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MSH2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MSH2_HUMAN
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269 PubMed:12792735, ECO:0000269 PubMed:14504054, ECO:0000269 PubMed:15996210, ECO:0000269 PubMed:9559627}. Note=Disease susceptibility may be associated with variations 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. {ECO:0000305 PubMed:11306449, ECO:0000305 PubMed:21642682}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • 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:18781619, ECO:0000269 PubMed:18822302, ECO:0000269 PubMed:18951462, ECO:0000269 PubMed:21120944, ECO:0000269 PubMed:22102614, ECO:0000269 PubMed:22371642, ECO:0000269 PubMed:7874129, ECO:0000269 PubMed:8261515, ECO:0000269 PubMed:8700523, ECO:0000269 PubMed:8797773, 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:9621522, ECO:0000269 PubMed:9718327, ECO:0000269 PubMed:9889267}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mismatch repair cancer syndrome (MMRCS) [MIM:276300]: An autosomal recessive, rare, childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. Areas of skin hypopigmentation have also been reported in MMRCS patients. {ECO:0000269 PubMed:12549480, ECO:0000269 PubMed:16372347}. 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.

Relevant External Links for MSH2

Genetic Association Database (GAD)
MSH2
Human Genome Epidemiology (HuGE) Navigator
MSH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MSH2
genes like me logo Genes that share disorders with MSH2: view

No data available for Genatlas for MSH2 Gene

Publications for MSH2 Gene

  1. Effect of DNA repair host factors on temozolomide or dacarbazine melanoma treatment in Caucasians. (PMID: 19741564) Boeckmann L. … Emmert S. (Pharmacogenet. Genomics 2009) 3 22 46 64
  2. Cancer risk in MLH1, MSH2 and MSH6 mutation carriers; different risk profiles may influence clinical management. (PMID: 20028567) Ramsoekh D. … Kuipers E.J. (Hered Cancer Clin Pract 2009) 3 22 46 64
  3. Mechanisms of pathogenicity in human MSH2 missense mutants. (PMID: 18951462) Ollila S. … Nystroem M. (Hum. Mutat. 2008) 3 4 22 64
  4. Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. (PMID: 18033691) Barnetson R.A. … Dunlop M.G. (Hum. Mutat. 2008) 3 4 46 64
  5. Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC). (PMID: 17939062) Geary J. … Hodgson S.V. (Fam. Cancer 2008) 3 22 46 64

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