LongevityMap Gene

Gene details

HGNC symbol
TERC 
Aliases
TR; hTR; TRC3; DKCA1; PFBMFT2; SCARNA19 
Common name
telomerase RNA component 
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, and an RNA component, encoded by this gene, that 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. Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. [provided by RefSeq, Jul 2008]
Cytogenetic Location
3q26.2
UCSC Genome Browser
View 3q26.2 on the UCSC genome browser
OMIM
602322
Ensembl
ENSG00000270141
UniProt/Swiss-Prot
Entrez Gene
7012
UniGene
436182
1000 Genomes
1000 Genomes

Homologs in model organisms

No homologs found

In other databases

GenAge human genes
  • This gene is present as TERC
CellAge
  • This gene is present as TERC

Studies (2)

Significant/Non-significant: 1/1

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
TERC
Reference

    Study 2

    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
    rs12696304
    Reference