LongevityMap Gene

Gene details

HGNC symbol
PMS2 
Aliases
MLH4; PMSL2; HNPCC4; PMS2CL 
Common name
PMS1 homolog 2, mismatch repair system component 
Description
The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]
Cytogenetic Location
7p22.1
UCSC Genome Browser
View 7p22.1 on the UCSC genome browser
OMIM
600259
Ensembl
ENSG00000122512
UniProt/Swiss-Prot
B4DGM0_HUMAN
Entrez Gene
5395
UniGene
632637
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
pms-2
Danio rerio
pms2
Drosophila melanogaster
Pms2
Mus musculus
Pms2
Rattus norvegicus
Pms2
Saccharomyces cerevisiae
PMS1
Schizosaccharomyces pombe
pms1

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as PMS1

Studies (2)

Significant/Non-significant: 0/2

Study 1

Longevity Association
Non-significant
Population
Ashkenazi Jewish
Study Design
Next-generation sequencing was employed to identify novel variants in 988 candidate genes in 6 centenarians, revealing 89 novel non-synonymous SNPs. These were genotyped in 410 Ashkenazi Jewish controls and 390 centenarians.
Conclusions
Without correcting for multiple testing, the p.Y318C variant in PMS2 was significantly enriched while the p.V465A variant in GABRR3 was significantly depleted in centenarians
Indentifier
p.Y318C
Reference

    Study 2

    Longevity Association
    Non-significant
    Population
    Danish
    Study Design
    592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
    Conclusions
    The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
    Indentifier
    rs2286680
    Reference