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Symbol TSC2 contributors: mct/pgu/shn - updated : 30-07-2014
HGNC name tuberous sclerosis 2
HGNC id 12363
corresponding disease(s) TSC2 , FCDBC3
related resource TSC Variation database
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   LOH    
in hamartoma and angiomyolipoma
tumoral germinal mutation      
in pulmonary lymphangioleiomyomatosis
tumoral       loss of function
in hamartoma and kidney tumor
tumoral somatic mutation     loss of function
two-hit mechanism of biallelic inactivation of TSC1 or TSC2, leading to activation of FRAP1 and to subependymal giant cell
cells lacking TSC2 have cilia that are on average 1727 p100 longer than wild-type cells, which indicates a defect in normal ciliogenesis
tumoral       loss of function
inactivating mutations in TSC2 and PIK3R1 in urothelial carcinoma
Susceptibility to medulloblastoma
Variant & Polymorphism other allele A2 increase susceptibility to medulloblastoma
Candidate gene
Therapy target
targeting TSC1/2 is a strategy for boosting antitumor immune therapy
  • homozygous state of Tsc2(Ek/Ek) mutation Eker rat model is lethal in mid-gestation displaying dysraphia and papillary overgrowth of the neuroepithelium (
  • Rats with a germline inactivation of one allele of the Tsc2 tumor suppressor gene developed early onset severe bilateral polycystic kidney disease (
  • mutations in the Drosophila Tsc2 cause a phenotype characterized by enhanced growth and increased cell size with no change in ploidy (
  • mice with a heterozygous, inactivating mutation in the Tsc2 gene (Tsc2(+/-) mice) show deficits in learning and memory (
  • mouse selectively deleted for the Tsc2 gene from radial glial progenitor cells in the developing cerebral cortex and hippocampus are severely runted, develop post-natal megalencephaly and die between 3 and 4 weeks of age with cortical and hippocampal lamination defects, hippocampal heterotopias, enlarged dysplastic neurons and glia, abnormal myelination and an astrocytosis (
  • Embryos homozygous for the del3 allele survive until E13.5, 2 days longer than Tsc2 null embryos (die from underdevelopment of the liver, deficient hematopoiesis, aberrant vascular development and hemorrhage. Mice heterozygous for the del3 allele have a markedly reduced kidney tumor burden in comparison with conventional Tsc2+/
  • mice
  • cells with mutation in TSC2 are hypersensitive to endoplasmic reticulum stress and undergo apoptosis (