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
- Danio rerio
- pms2
- Drosophila melanogaster
- Pms2
- Mus musculus
- Gm42421
- 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