Tuberous sclerosis 2
Identifiers
Symbols	TSC2; LAM; TSC4
External IDs	OMIM: 191092 MGI: 102548 HomoloGene: 462 GeneCards: TSC2 Gene
Gene Ontology Molecular function • GTPase activator activity • protein binding • phosphatase binding • protein homodimerization activity • protein heterodimerization activity • 14-3-3 protein binding Cellular component • intracellular • membrane fraction • nucleus • nucleus • cytoplasm • cytoplasm • microsome • Golgi apparatus • Golgi apparatus • cytosol • cytosol • caveola • membrane • dendrite • growth cone • TSC1-TSC2 complex • neuronal cell body • cytoskeletal part • perinuclear region of cytoplasm Biological process • response to hypoxia • neural tube closure • negative regulation of protein kinase activity • protein import into nucleus • endocytosis • acute-phase response • cell cycle arrest • signal transduction • epidermal growth factor receptor signaling pathway • heart development • protein localization • negative regulation of cell proliferation • negative regulation of cell proliferation • insulin receptor signaling pathway • fibroblast growth factor receptor signaling pathway • negative regulation of phosphatidylinositol 3-kinase cascade • vesicle-mediated transport • cell projection organization • regulation of endocytosis • negative regulation of Wnt receptor signaling pathway • negative regulation of TOR signaling cascade • negative regulation of MAP kinase activity • protein kinase B signaling cascade • protein kinase B signaling cascade • positive regulation of GTPase activity • establishment of protein localization • negative regulation of cell size • regulation of insulin receptor signaling pathway • regulation of insulin receptor signaling pathway • insulin-like growth factor receptor signaling pathway • insulin-like growth factor receptor signaling pathway • nerve growth factor receptor signaling pathway • phosphatidylinositol-mediated signaling • negative regulation of epithelial cell proliferation • positive chemotaxis • regulation of small GTPase mediated signal transduction • protein homooligomerization • protein heterooligomerization • regulation of cell cycle • negative regulation of protein kinase B signaling cascade Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	7249	22084
Ensembl	ENSG00000103197	ENSMUSG00000002496
UniProt	P49815	E9PY87
RefSeq (mRNA)	NM_000548.3	NM_001039363.1
RefSeq (protein)	NP_000539.2	NP_001034452.1
Location (UCSC)	Chr 16: 2.1 – 2.14 Mb	Chr 17: 24.73 – 24.77 Mb
PubMed search	[1]	[2]
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Tuberous sclerosis protein 2, also known as TSC2 and Tuberin, is a human protein and 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.^[1]

Interactions [link]

TSC2 has been shown to interact with FOXO1,^[2] GSK3B,^[3][4] Peptidylglycine alpha-amidating monooxygenase,^[5] RAP1A,^[6][7] MAPK1,^[8] AKT1,^[9][10] AXIN1,^[3] TSC1,^{[2][3][8][9][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25]} PTK2,^[26] Protein kinase, AMP-activated, alpha 1,^[17][27] YWHAZ,^[14] RPS6KA1,^[10][28] UBE3A^[29][30] and RHEB.^{[2][6][31][32][33][34]}

See also [link]

• Tuberous sclerosis protein

References [link]

External links [link]

• GeneReviews/NIH/NCBI/UW entry on Tuberous Sclerosis Complex or Bourneville Disease

Further reading [link]

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