LongevityMap variant group
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
Variants (6)
MYNN
Gene details
- HGNC symbol
- MYNN
- Aliases
- OSZF; SBBIZ1; ZBTB31; ZNF902
- Common name
- myoneurin
- Description
- This gene encodes a member of the BTB/POZ and zinc finger domain-containing protein family that are involved in the control of gene expression. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 14. [provided by RefSeq, Jun 2010]
- OMIM
- 606042
- Ensembl
- ENSG00000085274
- UniProt/Swiss-Prot
- B4E2H9_HUMAN
- Entrez Gene
- 55892
- UniGene
- 507025
- HapMap
- View on HapMap
Homologs in model organisms
TERC
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]
- Other longevity studies of this gene
- 1
- OMIM
- 602322
- Ensembl
- ENSG00000270141
- UniProt/Swiss-Prot
- Entrez Gene
- 7012
- UniGene
- 436182
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
In other databases
- GenAge human genes
- This gene is present as TERC
TERT
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