NP_000539.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
25,773 Da
NCBI Official Full Name
tuberin isoform 1
NCBI Official Synonym Full Names
tuberous sclerosis 2
NCBI Protein Information
tuberin; tuberous sclerosis 2 protein; protein phosphatase 1, regulatory subunit 160
UniProt Protein Name
Tuberin
UniProt Synonym Protein Names
Tuberous sclerosis 2 protein
UniProt Synonym Gene Names
UniProt Entry Name
TSC2_HUMAN
NCBI Summary for TSC2
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]
UniProt Comments for TSC2
TSC2: a product of the tumor suppressor gene TSC2. Tuberin and Hamartin (TSC1) form a tumor suppressor heterodimer that inhibits the mTOR nutrient signaling input. TSC1/TSC2 targets the small G protein Rheb, a novel mediator of the nutrient signaling input to mTOR. Functions as a Rheb GTPase activating protein (GAP). Four alternatively spliced isoforms have been described.
Protein type: Tumor suppressor; GAPs; Cell cycle regulation; Nuclear receptor co-regulator; GAPs, misc.
Chromosomal Location of Human Ortholog: 16p13.3
Cellular Component: TSC1-TSC2 complex; Golgi apparatus; growth cone; cytoskeleton; membrane; cell soma; perinuclear region of cytoplasm; dendrite; cytoplasm; caveola; cytosol; nucleus
Molecular Function: protein binding; protein homodimerization activity; protein heterodimerization activity; GTPase activator activity; phosphatase binding
Biological Process: negative regulation of MAP kinase activity; phosphoinositide 3-kinase cascade; negative regulation of Wnt receptor signaling pathway; regulation of insulin receptor signaling pathway; nerve growth factor receptor signaling pathway; protein heterooligomerization; regulation of cell cycle; heart development; negative regulation of insulin receptor signaling pathway; negative regulation of cell size; negative regulation of cell proliferation; protein localization; cell projection organization and biogenesis; positive chemotaxis; protein import into nucleus; regulation of endocytosis; acute-phase response; protein kinase B signaling cascade; cell cycle arrest; protein homooligomerization; negative regulation of epithelial cell proliferation; epidermal growth factor receptor signaling pathway; negative regulation of TOR signaling pathway; fibroblast growth factor receptor signaling pathway; negative regulation of protein kinase B signaling cascade; phosphoinositide-mediated signaling; endocytosis; vesicle-mediated transport; insulin-like growth factor receptor signaling pathway; glucose import; neural tube closure; insulin receptor signaling pathway; response to hypoxia; innate immune response; negative regulation of protein kinase activity; positive regulation of transcription from RNA polymerase II promoter; negative regulation of phosphoinositide 3-kinase cascade
Disease: Lymphangioleiomyomatosis; Tuberous Sclerosis 2
Research Articles on TSC2
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Products associated with anti-TSC2 antibody
Pathways associated with anti-TSC2 antibody
Diseases associated with anti-TSC2 antibody
Organs/Tissues associated with anti-TSC2 antibody
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