LongevityMap Gene
Gene details
- HGNC symbol
- TSC2
- Aliases
- LAM; TSC4; PPP1R160
- Common name
- tuberous sclerosis 2
- Description
- Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
- Cytogenetic Location
- 16p13.3
- UCSC Genome Browser
- View 16p13.3 on the UCSC genome browser
- OMIM
- 191092
- Ensembl
- ENSG00000103197
- UniProt/Swiss-Prot
- B3KWH7_HUMAN
- Entrez Gene
- 7249
- UniGene
- 90303
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Danio rerio
- TSC2
- Drosophila melanogaster
- gig
- Mus musculus
- Tsc2
- Rattus norvegicus
- Tsc2
- Schizosaccharomyces pombe
- tsc2
In other databases
- GenAge model organism genes
- A homolog of this gene for Drosophila melanogaster is present as gig
- GenDR gene manipulations
- A homolog of this gene for Drosophila melanogaster is present as gig
Studies (2)
Significant/Non-significant: 1/1
Study 1
- Longevity Association
- Significant
- Population
- Dutch
- Study Design
- 1,018 SNPs within a 10-kb window around 40 mTOR signalling genes were studied for differences in variation between 417 unrelated nonagenarian participants and 476 younger controls
- Conclusions
- As a whole, there was a significant association of genetic variation in the mTOR pathway and familial longevity, though no individual gene was significant after correcting for multiple hypothesis testing
- Indentifier
- TSC2
- Reference
Study 2
- 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
- rs2516739
- Reference