LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
Danish
Study Design
Two TERC and four TERT SNPs were studied for an association with longevity in 1069 Danes (58-100 years)
Conclusions
No SNP was found to be associated with longevity after correcting for multiple testing, though the A allele of rs3772190 (TERC) was indicative of an association with longevity and, in contradiction, was also associated with lower survival
Identifier
rs33954691
In Other Studies (IDs)
2496
Cytogenetic Location
5p15.33
UCSC Genome Browser
View 5p15.33 on the UCSC genome browser

Gene details

HGNC symbol
TERT
Aliases
TP2; TRT; CMM9; EST2; TCS1; hTRT; DKCA2; DKCB4; hEST2; PFBMFT1 
Common name
telomerase reverse transcriptase 
Description
Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
16
OMIM
187270
Ensembl
ENSG00000164362
UniProt/Swiss-Prot
TERT_HUMAN
Entrez Gene
7015
UniGene
492203
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
tert
Mus musculus
Tert
Rattus norvegicus
Tert
Saccharomyces cerevisiae
EST2
Schizosaccharomyces pombe
trt1

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Tert
GenAge human genes
  • This gene is present as TERT
CellAge
  • This gene is present as TERT

References

Soerensen et al. (2012)

Other variants which are also part of this study