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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MSH3
mutS homolog 3
Chromosome 5 · 5q14.1
NCBI Gene: 4437Ensembl: ENSG00000113318.12HGNC: HGNC:7326UniProt: P20585
188PubMed Papers
22Diseases
0Drugs
594Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub Gene
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membraneMutSbeta complexprotein homodimerization activitysingle-stranded DNA bindingfamilial adenomatous polyposis 4endometrial carcinomahereditary neoplastic syndromeInherited cancer-predisposing syndrome
✦AI Summary

MSH3 (mutS homolog 3) is a DNA mismatch repair (MMR) protein that forms the MutSβ complex with MSH2, recognizing and binding to large insertion-deletion loops and DNA mismatches to initiate repair processes 1. In disease contexts, MSH3 plays a critical role in somatic CAG repeat expansion, particularly in neurodegenerative disorders like Huntington's disease (HD). MSH3 drives the expansion of CAG repeats in striatal medium spiny neurons and other vulnerable cell types, with expansion rates reaching 8.8 repeats per month in HD mouse models 2. This somatic expansion accelerates disease onset and progression in HD 3. Therapeutically, MSH3 represents an attractive target because it is relatively tolerant of loss-of-function variation in humans, unlike other MMR genes 3. Antisense oligonucleotides and siRNA targeting MSH3 effectively reduce somatic CAG expansion in HD models without causing cancer-associated microsatellite instability 34. Germline biallelic MSH3 mutations cause a recessive form of colorectal adenomatous polyposis, demonstrating its importance in tumor suppression 5. MSH3 levels are upregulated in HD and spinocerebellar ataxia patient brains, where it works with MSH2 to promote pathogenic repeat expansions 67.

Sources cited
1
MSH3 is a DNA mismatch repair protein that forms complexes to recognize and repair DNA mismatches
PMID: 30561401
2
MSH3 drives somatic CAG repeat expansion in HD with rates of 8.8 repeats/month in striatal neurons
PMID: 39938516
3
MSH3 is tolerant of loss-of-function variation and represents a therapeutic target for HD
PMID: 39937881
4
siRNA targeting MSH3 blocks somatic repeat expansion without affecting microsatellite instability
PMID: 37177784
5
Biallelic germline MSH3 mutations cause recessive colorectal adenomatous polyposis
PMID: 27476653
6
MSH3 levels are associated with CAG expansions in HD patient brains
PMID: 38291334
7
MSH3 is upregulated in HD and spinocerebellar ataxia patient brains
PMID: 37827155
Disease Associationsⓘ22
familial adenomatous polyposis 4Open Targets
0.74Strong
endometrial carcinomaOpen Targets
0.65Moderate
hereditary neoplastic syndromeOpen Targets
0.58Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.57Moderate
endometrial cancerOpen Targets
0.37Weak
endometrial neoplasmOpen Targets
0.37Weak
response to fenofibrateOpen Targets
0.28Weak
neurodegenerative diseaseOpen Targets
0.28Weak
X-linked dystonia-parkinsonismOpen Targets
0.28Weak
response to simvastatinOpen Targets
0.28Weak
cancerOpen Targets
0.21Weak
Huntington diseaseOpen Targets
0.19Weak
diffuse midline glioma, H3 K27-alteredOpen Targets
0.16Weak
neoplasmOpen Targets
0.11Weak
cavernous sinus meningiomaOpen Targets
0.11Weak
glioblastoma multiformeOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.09Suggestive
renal cell carcinomaOpen Targets
0.08Suggestive
Endometrial cancerUniProt
Familial adenomatous polyposis 4UniProt
Pathogenic Variants594
NM_002439.5(MSH3):c.2191C>T (p.Gln731Ter)Pathogenic
Familial adenomatous polyposis 4|not provided
★★☆☆2026→ Residue 731
NM_002439.5(MSH3):c.574C>T (p.Gln192Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 4|Endometrial carcinoma
★★☆☆2026→ Residue 192
NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 4|Endometrial carcinoma|MSH3-related disorder
★★☆☆2026→ Residue 896
NM_002439.5(MSH3):c.2179C>T (p.Arg727Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Endometrial carcinoma|Familial adenomatous polyposis 4
★★☆☆2026→ Residue 727
NM_002439.5(MSH3):c.1586C>G (p.Ser529Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Endometrial carcinoma|Familial adenomatous polyposis 4
★★☆☆2026→ Residue 529
NM_002439.5(MSH3):c.3001-2A>GPathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 4|Endometrial carcinoma
★★☆☆2026
NM_002439.5(MSH3):c.2785_2786del (p.Ile929fs)Pathogenic
Familial adenomatous polyposis 4|not provided
★★☆☆2026→ Residue 929
NM_002439.5(MSH3):c.1686G>A (p.Trp562Ter)Pathogenic
not provided|Familial adenomatous polyposis 4|Endometrial carcinoma|Hereditary cancer-predisposing syndrome
★★☆☆2026→ Residue 562
NM_002439.5(MSH3):c.1897-1G>ALikely pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 4|Endometrial carcinoma
★★☆☆2026
NM_002439.5(MSH3):c.358+2T>GLikely pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 4|Endometrial carcinoma|Familial adenomatous polyposis 4;Endometrial carcinoma
★★☆☆2026
NM_002439.5(MSH3):c.1575dup (p.Lys526Ter)Pathogenic
not provided|Familial adenomatous polyposis 4
★★☆☆2026→ Residue 526
NM_002439.5(MSH3):c.1148del (p.Lys383fs)Pathogenic
Familial adenomatous polyposis 4|Endometrial carcinoma|not provided|Hereditary cancer-predisposing syndrome|MSH3-related disorder|Neoplasm
★★☆☆2026→ Residue 383
NM_002439.5(MSH3):c.1935_1938dup (p.His647fs)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Endometrial carcinoma|Familial adenomatous polyposis 4
★★☆☆2026→ Residue 647
NM_002439.5(MSH3):c.238-1G>ALikely pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 4|Endometrial carcinoma
★★☆☆2026
NM_002439.5(MSH3):c.3064_3067del (p.Ser1022fs)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Familial adenomatous polyposis 4
★★☆☆2026→ Residue 1022
NM_002439.5(MSH3):c.1764-1G>APathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 4|Endometrial carcinoma
★★☆☆2026
NM_002439.5(MSH3):c.1468_1469insAT (p.Ser490fs)Pathogenic
not provided|Familial adenomatous polyposis 4|Hereditary cancer-predisposing syndrome
★★☆☆2026→ Residue 490
NM_002439.5(MSH3):c.14del (p.Lys5fs)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 4|Endometrial carcinoma
★★☆☆2026→ Residue 5
NM_002439.5(MSH3):c.1144A>T (p.Lys382Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 4|Endometrial carcinoma
★★☆☆2026→ Residue 382
NM_002439.5(MSH3):c.2253+3_2253+7delPathogenic
not provided|Hereditary cancer-predisposing syndrome|Endometrial carcinoma
★★☆☆2026
View on ClinVar ↗
Related Genes
XPAProtein interaction100%SLX4Protein interaction100%RAD23BProtein interaction100%MUS81Protein interaction100%XPCProtein interaction99%ERCC3Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Heart
78%
Bone Marrow
78%
Liver
60%
Ovary
46%
Lung
40%
Gene Interaction Network
Click a node to explore
MSH3XPASLX4RAD23BMUS81XPCERCC3
PROTEIN STRUCTURE
Preparing viewer…
PDB8RB1 · 2.08 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.03LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.70–1.03]
RankingsWhere MSH3 stands among ~20K protein-coding genes
  • #2,281of 20,598
    Most Researched188 · top quartile
  • #82of 5,498
    Most Pathogenic Variants594 · top 5%
  • #10,130of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedMSH3
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Antisense oligonucleotide-mediated MSH3 suppression reduces somatic CAG repeat expansion in Huntington's disease iPSC-derived striatal neurons.
PMID: 39937881
Sci Transl Med · 2025
1.00
2
Microsatellite instability in colorectal cancer.
PMID: 30561401
Acta Biomed · 2018
0.90
3
A CAG repeat threshold for therapeutics targeting somatic instability in Huntington's disease.
PMID: 38387080
Brain · 2024
0.80
4
Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability.
PMID: 37827155
Cell · 2023
0.70
5
Genomic organization and expression of the human MSH3 gene.
PMID: 8838312
Genomics · 1996
0.64