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
- 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