MSH2 Gene (Protein Coding)

MutS Homolog 2

GC02P047402
GIFtS:
49
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... See more...

Aliases for MSH2 Gene

Aliases for MSH2 Gene

  • MutS Homolog 2 2 3 5
  • DNA Mismatch Repair Protein Msh2 2 3 4
  • 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 Transcript 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 Lynch Syndrome I. Among its related pathways are Immune response IL-23 signaling pathway and Regulation of TP53 Activity. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is MSH6.

UniProtKB/Swiss-Prot Summary 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. Recruits DNA helicase MCM9 to chromatin which unwinds the mismatch containg DNA strand (PubMed:26300262). 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

Additional gene information for MSH2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MSH2 Gene

Genomics for MSH2 Gene

GeneHancer (GH) Regulatory Elements for MSH2 Gene

Promoters and enhancers for MSH2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MSH2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MSH2 gene promoter:
  • AP-1
  • AREB6
  • ATF-2
  • c-Jun
  • CBF(2)
  • GATA-3
  • NF-Y

Genomic Locations for MSH2 Gene

Genomic Locations for MSH2 Gene
chr2:47,402,969-47,663,146
(GRCh38/hg38)
Size:
260,178 bases
Orientation:
Plus strand
chr2:47,630,108-47,789,450
(GRCh37/hg19)
Size:
159,343 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 Structure • Gene Density

RefSeq DNA sequence for MSH2 Gene

Proteins for MSH2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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:
    • Component of the DNA mismatch repair (MMR) complex composed at least of MSH2, MSH3, MSH6, PMS1 and MLH1 (PubMed:26300262). Heterodimer consisting of MSH2-MSH6 (MutS alpha) or MSH2-MSH3 (MutS beta) (PubMed:8942985). Both heterodimers form a ternary complex with MutL alpha (MLH1-PMS1) (PubMed:9788596, PubMed:10856833, PubMed:11427529, PubMed:11429708, PubMed:12414623, PubMed:14676842). Interacts with MCM9; the interaction recruits MCM9 to chromatin (PubMed:26300262). Interacts with MCM8 (PubMed:26300262). Interacts with EXO1 (PubMed:9788596, PubMed:10856833, PubMed:11427529, PubMed:11429708, PubMed:12414623, PubMed:14676842). 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 (PubMed:10783165). This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains (PubMed:10783165). Interacts with ATR (PubMed:14657349). Interacts with SLX4/BTBD12; this interaction is direct and links MutS beta to SLX4, a subunit of different structure-specific endonucleases (PubMed:19596235). Interacts with SMARCAD1 (PubMed:18675275).
    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

Protein Expression for MSH2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Other Protein References for MSH2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for MSH2

No data available for DME Specific Peptides for MSH2 Gene

Domains & Families for MSH2 Gene

Gene Families for MSH2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MSH2 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MSH2 Gene

GenScript: Design optimal peptide antigens:
  • Truncated mutS homolog 2 protein (A5JTU9_HUMAN)
  • Truncated mutS homolog 2 protein (A5JTV2_HUMAN)
  • MutS homolog 2 protein (A5JTV3_HUMAN)
  • cDNA FLJ57316, highly similar to DNA mismatch repair protein Msh2 (B4DL39_HUMAN)
  • cDNA FLJ51069, highly similar to DNA mismatch repair protein Msh2 (B4DSB9_HUMAN)

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MSH2 Gene

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. Recruits DNA helicase MCM9 to chromatin which unwinds the mismatch containg DNA strand (PubMed:26300262). 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:
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

Phenotypes From GWAS Catalog for MSH2 Gene

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:0000406 double-strand/single-strand DNA junction binding IBA 21873635
GO:0003677 DNA binding IDA 7923193
GO:0003682 chromatin binding IDA 26300262
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSH2

Clone Products

  • Addgene plasmids for MSH2

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

Nucleus. Chromosome.

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
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MSH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region HDA 19135898
GO:0005634 nucleus IBA,IDA 26300262
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0016020 membrane HDA 19946888
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

Pathways by source for MSH2 Gene

1 GeneGo (Thomson Reuters) pathway for MSH2 Gene
4 Qiagen pathways for MSH2 Gene
  • BRCA1 Pathway
  • Colorectal Cancer Metastasis
  • DNA Repair Mechanisms
  • Mismatch Repair in Eukaryotes
1 Cell Signaling Technology pathway for MSH2 Gene

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 IBA 21873635
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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
leucovorin Approved Pharma 3801,1351
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1757
Folic acid Approved, Vet_approved Nutra 4687
Antimetabolites Pharma 13688
Antimetabolites, Antineoplastic Pharma 8498

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MSH2 Gene

(2) REFSEQ mRNAs :
(31) Additional mRNA sequences :
(204) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSH2

Clone Products

  • Addgene plasmids for MSH2

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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MSH2 Gene

mRNA expression in normal human tissues for MSH2 Gene
mRNA expression by BioGPS for MSH2 GenemRNA expression by GTEx 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, 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(2.3)
  • 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
Regions:
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

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 33 32
  • 93.29 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia MSH2 33 32
  • 91.68 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Msh2 17 33 32
  • 86.97 (n)
rat
(Rattus norvegicus)
 Mammalia Msh2 32
  • 86.22 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 33
  • 86 (a)
 OneToMany
-- 33
  • 81 (a)
 OneToMany
-- 33
  • 32 (a)
 OneToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia MSH2 33
  • 78 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MSH2 33 32
  • 76.41 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MSH2 33
  • 70 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia msh2 32
  • 73.74 (n)
zebrafish
(Danio rerio)
 Actinopterygii msh2 33 32
  • 67.28 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP010282 32
  • 51.08 (n)
fruit fly
(Drosophila melanogaster)
 Insecta spel1 33 34 32
  • 51.02 (n)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea msh-2 33 34
  • 31 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes MSH2 35 33 32
  • 53.54 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AFR603C 32
  • 52.76 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F02706g 32
  • 51.23 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons MSH2 32
  • 51.24 (n)
barley
(Hordeum vulgare)
 Liliopsida Hv.2199 32
corn
(Zea mays)
 Liliopsida Zm.215 32
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes msh2 32
  • 52.24 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU02230 32
  • 50.83 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.5956 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MSH2: view image

Paralogs for MSH2 Gene

Paralogs for MSH2 Gene

(2) SIMAP similar genes for MSH2 Gene using alignment to 18 proteins:

  • MSH2_HUMAN
  • A5JTU9_HUMAN
  • A5JTV2_HUMAN
  • A5JTV3_HUMAN
  • C9J809_HUMAN
  • E9PHA6_HUMAN
  • Q0ZAI9_HUMAN
  • Q0ZAJ0_HUMAN
  • Q0ZAJ1_HUMAN
  • Q0ZAJ2_HUMAN
  • Q53RU4_HUMAN
  • Q6VBB7_HUMAN
  • V9H015_HUMAN
  • V9H019_HUMAN
  • V9H023_HUMAN
  • V9H068_HUMAN
  • V9H0B2_HUMAN
  • V9H0D5_HUMAN
genes like me logo Genes that share paralogs with MSH2: view

Variants for MSH2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for MSH2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1010360604 likely-benign, Hereditary nonpolyposis colon cancer, Hereditary cancer-predisposing syndrome, not specified, Lynch syndrome I 47,445,615(+) C/G/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs10183143 benign, Lynch syndrome, not specified 47,466,898(+) T/C intron_variant
rs1021303606 uncertain-significance, Hereditary nonpolyposis colon cancer 47,414,387(+) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1024743168 uncertain-significance, Hereditary nonpolyposis colon cancer 47,414,312(+) T/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1028144634 uncertain-significance, Hereditary cancer-predisposing syndrome 47,416,324(+) A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant

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)

Additional Variant Information for MSH2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MSH2 Gene

MalaCards: The human disease database

(70) MalaCards diseases for MSH2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muir-torre syndrome
  • mrtes
lynch syndrome i
  • colorectal cancer, hereditary nonpolyposis, type 1; hnpcc1
mismatch repair cancer syndrome
  • mmrcs
lynch syndrome
  • colorectal cancer, hereditary nonpolyposis, type 1
ascending colon cancer
  • ca ascending colon
- 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
  • 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.
  • 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. {ECO:0000305 PubMed:11306449, ECO:0000305 PubMed:21642682}. Note=Disease susceptibility is associated with variations 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.
  • 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.

Additional Disease Information for MSH2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Pharmacogenetics and genomics 2009) 3 23 43 56
  2. Cancer risk in MLH1, MSH2 and MSH6 mutation carriers; different risk profiles may influence clinical management. (PMID: 20028567) Ramsoekh D … Kuipers EJ (Hereditary cancer in clinical practice 2009) 3 23 43 56
  3. Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. (PMID: 18033691) Barnetson RA … Dunlop MG (Human mutation 2008) 3 4 43 56
  4. Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC). (PMID: 17939062) Geary J … Hodgson SV (Familial cancer 2008) 3 23 43 56
  5. Mechanisms of pathogenicity in human MSH2 missense mutants. (PMID: 18951462) Ollila S … Nyström M (Human mutation 2008) 3 4 23 56

ExternalLinks

View latest publications for MSH2 gene in Mastermind

Products for MSH2 Gene