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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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MSH2
mutS homolog 2
Chromosome 2 Β· 2p21-p16.3
NCBI Gene: 4436Ensembl: ENSG00000095002.16HGNC: HGNC:7325UniProt: A0A2R8Y6P0
937PubMed Papers
25Diseases
0Drugs
2,169Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub GeneTumor Suppressor
RESEARCH IMPACT
Highly StudiedVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
oxidized purine DNA bindingmagnesium ion bindingfour-way junction DNA bindingdouble-stranded DNA bindingLynch syndromeConstitutional mismatch repair deficiency syndromeMuir-Torre syndromemismatch repair cancer syndrome 1
✦AI Summary

MSH2 is a core component of the post-replicative DNA mismatch repair (MMR) system that forms heterodimers with MSH6 (MutS alpha) or MSH3 (MutS beta) to recognize and initiate repair of DNA mismatches 1. MutS alpha specifically recognizes single base mismatches and small insertion-deletion loops, while MutS beta detects larger loops up to 13 nucleotides 2. Upon mismatch binding, MSH2-containing complexes undergo ATP-dependent conformational changes that convert them into sliding clamps capable of directing downstream MMR events including strand discrimination and resynthesis 3. Beyond canonical MMR, MSH2-MSH3 promotes DNA end resection during homologous recombination repair and blocks polymerase theta-mediated end-joining through SMARCAD1 interaction 4. Germline MSH2 mutations account for approximately 56% of pathogenic variants in Lynch syndrome families, with 72% of tumors from Amsterdam criteria-positive patients showing high microsatellite instability 5. MSH2 deficiency drives endometrial cancer through mitochondrial dysfunction and metabolic reprogramming, with 50% of MSH2-knockout mice developing endometrial cancer by 16 months 6. Clinically, approximately 90% of observed MSH2 missense variants are variants of uncertain significance; however, functional studies demonstrate 89% are functionally neutral 1. Cell-based assays enable classification of VUS to guide Lynch syndrome diagnosis and cancer risk stratification 32.

Sources cited
1
MSH2 missense variant functional mapping showing 89% are functionally neutral and ability to resolve VUS in Lynch syndrome
PMID: 33357406
2
Methylation tolerance assay for assessing MSH2 variants and characterization of MMR function in Lynch syndrome
PMID: 30998989
3
MSH2 mutations account for 56% of pathogenic variants in HNPCC families and association with microsatellite instability
PMID: 15849733
4
MSH2 loss drives endometrial cancer development through mitochondrial dysfunction and metabolic reprogramming in Lynch syndrome
PMID: 39964762
5
In cellulo analysis of MMR variants (inCAMA) as calibrated functional assay for MSH2 variant classification with odds of pathogenicity scoring
PMID: 40948606
6
MSH2-MSH3 complex promotes DNA end resection during homologous recombination repair and blocks polymerase theta-mediated end-joining
PMID: 37140056
Disease Associationsβ“˜25
Lynch syndromeOpen Targets
0.89Strong
Constitutional mismatch repair deficiency syndromeOpen Targets
0.78Strong
Muir-Torre syndromeOpen Targets
0.75Strong
mismatch repair cancer syndrome 1Open Targets
0.74Strong
colon carcinomaOpen Targets
0.73Strong
hereditary nonpolyposis colon cancerOpen Targets
0.71Strong
colonic neoplasmOpen Targets
0.70Moderate
malignant colon neoplasmOpen Targets
0.69Moderate
endometrial carcinomaOpen Targets
0.65Moderate
uterine corpus cancerOpen Targets
0.65Moderate
colorectal cancerOpen Targets
0.64Moderate
neoplasmOpen Targets
0.63Moderate
ovarian cancerOpen Targets
0.62Moderate
Digestive System CarcinomaOpen Targets
0.59Moderate
breast carcinomaOpen Targets
0.58Moderate
hereditary neoplastic syndromeOpen Targets
0.58Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.58Moderate
Non-polyposis Turcot syndromeOpen Targets
0.57Moderate
digestive system cancerOpen Targets
0.57Moderate
digestive system neoplasmOpen Targets
0.56Moderate
Colorectal cancerUniProt
Endometrial cancerUniProt
Lynch syndrome 1UniProt
Mismatch repair cancer syndrome 2UniProt
Muir-Torre syndromeUniProt
Pathogenic Variants2,169
NM_000251.3(MSH2):c.2634+1G>TLikely pathogenic
Lynch syndrome|Hereditary cancer-predisposing syndrome|Lynch-like syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1|not provided
β˜…β˜…β˜…β˜†2019
NM_000251.3(MSH2):c.2635-1G>TLikely pathogenic
Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Lynch syndrome 1
β˜…β˜…β˜…β˜†2019
NM_000251.3(MSH2):c.2005+1G>TLikely pathogenic
Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Lynch syndrome 1
β˜…β˜…β˜…β˜†2019
NM_000251.3(MSH2):c.2634+1G>ALikely pathogenic
Lynch syndrome|Hereditary cancer-predisposing syndrome|not specified|Hereditary nonpolyposis colorectal neoplasms|not provided|Lynch syndrome 1
β˜…β˜…β˜…β˜†2019
NM_000251.3(MSH2):c.2245G>A (p.Glu749Lys)Likely pathogenic
Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1
β˜…β˜…β˜…β˜†2019β†’ Residue 749
NM_000251.3(MSH2):c.2211-2A>TLikely pathogenic
Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|not provided|Lynch syndrome 1
β˜…β˜…β˜…β˜†2019
NM_000251.3(MSH2):c.1386+1G>TLikely pathogenic
Lynch syndrome|not provided|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1|Lynch syndrome 1;Mismatch repair cancer syndrome 2;Muir-TorrΓ© syndrome
β˜…β˜…β˜…β˜†2019
NM_000251.3(MSH2):c.1386+1G>CLikely pathogenic
Lynch syndrome|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜…β˜†2019
NM_000251.3(MSH2):c.2005+1G>CLikely pathogenic
Lynch syndrome|Hereditary cancer-predisposing syndrome|Lynch syndrome 1
β˜…β˜…β˜…β˜†2019
NM_000251.3(MSH2):c.2458+1G>ALikely pathogenic
Lynch syndrome|not provided|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1
β˜…β˜…β˜…β˜†2019
NM_000251.3(MSH2):c.2006-2A>GLikely pathogenic
Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colon cancer|Lynch syndrome 1|not provided|Hereditary nonpolyposis colorectal neoplasms
β˜…β˜…β˜…β˜†2019
NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg)Likely pathogenic
Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
β˜…β˜…β˜…β˜†2019β†’ Residue 692
NM_000251.3(MSH2):c.2210+1G>ALikely pathogenic
Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1|Hereditary nonpolyposis colon cancer
β˜…β˜…β˜…β˜†2019
NM_000251.3(MSH2):c.2211-2A>CLikely pathogenic
Lynch syndrome|Lynch syndrome 1|not provided
β˜…β˜…β˜…β˜†2019
NM_000251.3(MSH2):c.1276+1G>TLikely pathogenic
Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|not provided|Lynch syndrome 1;Mismatch repair cancer syndrome 2;Muir-TorrΓ© syndrome|Lynch syndrome 1|Hereditary nonpolyposis colon cancer
β˜…β˜…β˜…β˜†2019
NM_000251.3(MSH2):c.1276+1G>CLikely pathogenic
Lynch syndrome|Lynch syndrome 1
β˜…β˜…β˜…β˜†2019
NM_000251.3(MSH2):c.1277-1G>ALikely pathogenic
Lynch syndrome|Hereditary cancer-predisposing syndrome|Lynch syndrome 1|Lynch syndrome 1;Mismatch repair cancer syndrome 2;Muir-TorrΓ© syndrome
β˜…β˜…β˜…β˜†2019
NM_000251.3(MSH2):c.1386+1G>ALikely pathogenic
Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer|Hereditary nonpolyposis colorectal carcinoma|Lynch syndrome 1|not provided
β˜…β˜…β˜…β˜†2019
NM_000251.3(MSH2):c.1662-2A>GLikely pathogenic
Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜…β˜†2019
NM_000251.3(MSH2):c.1661+1G>TLikely pathogenic
Lynch syndrome|Hereditary cancer-predisposing syndrome|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1;Mismatch repair cancer syndrome 2;Muir-TorrΓ© syndrome
β˜…β˜…β˜…β˜†2019
View on ClinVar β†—
Related Genes
BMPR1AProtein interaction100%BRCA1Protein interaction100%BRCA2Protein interaction100%EPCAMProtein interaction100%MGMTProtein interaction100%MRE11Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
82%
Heart
44%
Ovary
18%
Lung
14%
Liver
12%
Gene Interaction Network
Click a node to explore
MSH2BMPR1ABRCA1BRCA2EPCAMMGMTMRE11
PROTEIN STRUCTURE
Preparing viewer…
PDB8RB1 Β· 2.08 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.67LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.52 [0.41–0.67]
RankingsWhere MSH2 stands among ~20K protein-coding genes
  • #181of 20,598
    Most Researched937 Β· top 1%
  • #10of 5,498
    Most Pathogenic Variants2,169 Β· top 1%
  • #4,957of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedMSH2
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
PMID: 33357406
Am J Hum Genet Β· 2021
1.00
2
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
PMID: 15849733
Int J Cancer Β· 2005
0.90
3
The role of the human DNA mismatch repair gene hMSH2 in DNA repair, cell cycle control and apoptosis: implications for pathogenesis, progression and therapy of cancer.
PMID: 17080293
J Mol Histol Β· 2006
0.84
4
Biochemical analysis of the human mismatch repair proteins hMutSΞ± MSH2(G674A)-MSH6 and MSH2-MSH6(T1219D).
PMID: 22277660
J Biol Chem Β· 2012
0.82
5
Methylation Tolerance-Based Functional Assay to Assess Variants of Unknown Significance in the MLH1 and MSH2 Genes and Identify Patients With Lynch Syndrome.
PMID: 30998989
Gastroenterology Β· 2019
0.80