MSH3
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MSH3 (HGNC:7326) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
mutS homolog 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
DUP, MRP1
%HI
18.27(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.03(Read more about gnomAD LOEUF score)
Cytoband
5q14.1
Genomic Coordinates
GRCh37/hg19: chr5:79950471-80172634 NCBI Ensembl UCSC
GRCh38/hg38: chr5:80654652-80876815 NCBI Ensembl UCSC
MANE Select Transcript
NM_002439.5 ENST00000265081.7 (Read more about MANE Select)
Function
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 downstrea... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-7097
ClinGen Curation ID:
CCID:007484
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
05/08/2020

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Familial adenomatous polyposis 4 Monarch
HI Evidence Comments:
Biallelic variants in MSH3 are found to be associated with autosomal recessive Familial adenomatous polyposis in 2 pairs of sibs from 2 unrelated families (Am. J. Hum. Genet. 99: 337-351, 2016, PMID 27476653). Three patients were diagnosed with polyps in their thirties; the fourth patient was diagnosed with colorectal adenocarcinoma at age 56. The 3 older patients, including both probands, had additional significant proliferative disorders affecting other organs, including thyroid adenoma, duodenal polyps, intraductal papillomas of the breast, uterine myoma, cutaneous fibrolipoma, astrocytoma, and gastric carcinoma. The reported variants were either loss of function or splice changes(c.1148delA, c.2319-1G>A, c.2760delC, and c.3001-2A>C). Immunohistochemical staining illustrated a complete loss of nuclear MSH3 in normal and tumor tissue.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
no evidence for triplosensitivity

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)