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
- CellAge gene expression
- This gene 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