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FLASH GENE

Symbol

TSC2

contributors: mct/pgu/shn - updated : 30-07-2014

HGNC name	tuberous sclerosis 2
HGNC id	12363

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

TSC2 , FCDBC3

related resource

TSC Variation database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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 constitutional         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
Marker
Therapy target
	System Type Disorder Pubmed cancer     targeting TSC1/2 is a strategy for boosting antitumor immune therapy

ANIMAL & CELL MODELS

	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 (