MSH3

Chr 5q14.1

mutS homolog 3

Aliases:: DUP, MRP1
MANE:: ENST00000265081.7

OMIM: 600887 ↗NCBI: 4437 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

MSH3 · P20585

v62025-08-01

Predicted Aligned Error matrix for MSH3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.8/ 100

Confident

1,137 residues

Confidence breakdown

Very high(≥ 90)59%
Confident(70–90)15%
Low(50–70)5%
Very low(< 50)22%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Inherited polyposis and early onset colorectal cancer - germline testing
BIALLELIC, autosomal or pseudoautosomal
GI tract tumours
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

familial adenomatous polyposis 4
0.74
endometrial carcinoma
0.65
hereditary neoplastic syndrome
0.58
Inherited cancer-predisposing syndrome
0.57
endometrial cancer
0.37
endometrial neoplasm
0.37
neurodegenerative disease
0.28
X-linked dystonia-parkinsonism
0.27
response to simvastatin
0.27
response to fenofibrate
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

DNA mismatch repair protein Msh3

Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA helix and shields approximately 20 base pairs. MutS beta recognizes large insertion-deletion loops (IDL) up to 13 nucleotides long. After mismatch binding, 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