TSC2

TSC2
Identifiers
Aliases	TSC2, LAM, PPP1R160, TSC4, tuberous sclerosis 2
External IDs	MGI: 102548 HomoloGene: 462 GeneCards: TSC2
Genetically Related Diseases
obesity
Gene ontology Molecular function • phosphatase binding • protein homodimerization activity • GTPase activator activity • small GTPase binding • protein binding Cellular component • cytoplasm • cytosol • Golgi apparatus • membrane • TSC1-TSC2 complex • perinuclear region of cytoplasm • lysosome • nucleus Biological process • regulation of endocytosis • protein localization • insulin-like growth factor receptor signaling pathway • negative regulation of protein kinase B signaling • endocytosis • protein kinase B signaling • protein import into nucleus • negative regulation of protein kinase activity • negative regulation of Wnt signaling pathway • negative regulation of phosphatidylinositol 3-kinase signaling • regulation of cell cycle • heart development • positive regulation of GTPase activity • neural tube closure • negative regulation of insulin receptor signaling pathway • cell cycle arrest • positive chemotaxis • viral process • regulation of small GTPase mediated signal transduction • vesicle-mediated transport • negative regulation of cell proliferation • regulation of insulin receptor signaling pathway • positive regulation of macroautophagy • negative regulation of TOR signaling • anoikis • membrane organization • negative regulation of macromitophagy Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	7249	22084
Ensembl	ENSG00000103197	ENSMUSG00000002496
UniProt	P49815	Q61037
RefSeq (mRNA)	NM_000548 NM_001077183 NM_001114382 NM_021055 NM_021056 NM_001318827 NM_001318829 NM_001318831 NM_001318832	NM_001039363 NM_001286713 NM_001286714 NM_001286716 NM_001286718 NM_001286720 NM_011647
RefSeq (protein)	NP_000539 NP_001070651 NP_001107854 NP_001305756 NP_001305758 NP_001305760 NP_001305761	n/a
Location (UCSC)	Chr 16: 2.05 – 2.09 Mb	Chr 17: 24.6 – 24.63 Mb
PubMed search

7249

22084

ENSG00000103197

ENSMUSG00000002496

P49815

Q61037

NM_001318827
NM_001318829
NM_001318831
NM_001318832

NM_001286720
NM_011647

NP_001305760
NP_001305761

n/a

Tuberous Sclerosis Complex 2 (TSC2), also known as Tuberin, is a protein that in humans is encoded by the TSC2 gene.

Mutations in this gene lead to tuberous sclerosis. 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 of the protein. Together with tuberous sclerosis, mutations in TSC2 can cause Lymphangioleiomyomatosis, a disease caused by the enlargement of tissue in the lungs, creating cysts and tumours and causing difficulty breathing. Because Tuberin regulates cell size, along with the protein Hamartin coded by the gene TSC1, mutations to these genes may prevent the control of cell growth in the lungs of individuals.

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Wikipedia