LongevityMap Gene

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]
Cytogenetic Location
5p15.33
UCSC Genome Browser
View 5p15.33 on the UCSC genome browser
OMIM
187270
Ensembl
ENSG00000164362
UniProt/Swiss-Prot
TERT_HUMAN
Entrez Gene
7015
UniGene
492203
1000 Genomes
1000 Genomes

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

Studies (4)

Significant/Non-significant: 2/2

Study 1

Longevity Association
Significant
Population
Ashkenazi Jewish
Study Design
In a cohort of Ashkenazi Jewish centenarians, their offspring, and offspring-matched controls, the inheritance and maintenance of telomere length and variations in hTERT and hTERC were studied
Conclusions
Sequence analysis of hTERT and hTERC showed overrepresentation of synonymous and intronic mutations among centenarians relative to controls. Moreover, common hTERT haplotype was associated with both exceptional longevity and longer telomere length.
Indentifier
TERT
Reference

    Study 2

    Longevity Association
    Significant
    Population
    Italian (Central)
    Study Design
    MNS16A genotypes were determined for 1072 unrelated healthy individuals (18–106 years old) divided into three gender-specific age classes defined according to demographic information and accounting for the different survivals between sexes. The categories for men were: individuals <66 years old, individuals 66-88 years old, and individuals > 88 years old. The categories for women were: individuals <73 years old, individuals 73-91 years old, and individuals > 91 years old.
    Conclusions
    The TERT functional variable number of tandem repeat MNS16A allele was found to be negatively associated with longevity. MNS16A shows significant associations when comparing males/females >88/91 years old with males/females in the age group 66-88/73-91.
    Indentifier
    MNS16A
    Reference

      Study 3

      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
      Indentifier
      rs2853691
      Reference

        Study 4

        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
        rs2853668
        Reference