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