LongevityMap Gene

Gene details

HGNC symbol
MSH6 
Aliases
GTBP; HSAP; p160; GTMBP; HNPCC5 
Common name
mutS homolog 6 
Description
This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
Cytogenetic Location
2p16.3
UCSC Genome Browser
View 2p16.3 on the UCSC genome browser
OMIM
600678
Ensembl
ENSG00000116062
UniProt/Swiss-Prot
MSH6_HUMAN
Entrez Gene
2956
UniGene
445052
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
msh-6
Danio rerio
msh6
Drosophila melanogaster
Msh6
Mus musculus
Msh6
Rattus norvegicus
Msh6
Saccharomyces cerevisiae
MSH6
Schizosaccharomyces pombe
msh6

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as MSH6

Studies (1)

Significant/Non-significant: 0/1

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
rs2348244
Reference