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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
16
Cytoband
p13.3
Chromosome location (bp)
2047967 - 2089491
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth 1,2,3,4,5,6,7,8,9,10. Within the TSC-TBC complex, TSC2 acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1 11,12,13,14,15,16,17,18. In absence of nutrients, the TSC-TBC complex inhibits mTORC1, thereby preventing phosphorylation of ribosomal protein S6 kinase (RPS6KB1 and RPS6KB2) and EIF4EBP1 (4E-BP1) by the mTORC1 signaling 19,20,21,22,23,24,25,26. The TSC-TBC complex is inactivated in response to nutrients, relieving inhibition of mTORC1 27,28. Involved in microtubule-mediated protein transport via its ability to regulate mTORC1 signaling (By similarity). Also stimulates the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
GTPase activation
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Host-virus interaction
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth. This TSC protein complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cardiovascular diseases Vascular diseases Congenital malformations Congenital malformations of the nervous system Other congenital malformations Nervous system diseases Other nervous and sensory system diseases Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001843[neural tube closure] GO:0005096[GTPase activator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0006469[negative regulation of protein kinase activity] GO:0006606[protein import into nucleus] GO:0006897[endocytosis] GO:0007507[heart development] GO:0008104[protein localization] GO:0008285[negative regulation of cell population proliferation] GO:0014067[negative regulation of phosphatidylinositol 3-kinase signaling] GO:0014069[postsynaptic density] GO:0016020[membrane] GO:0016192[vesicle-mediated transport] GO:0016239[positive regulation of macroautophagy] GO:0019902[phosphatase binding] GO:0030100[regulation of endocytosis] GO:0030178[negative regulation of Wnt signaling pathway] GO:0031267[small GTPase binding] GO:0032007[negative regulation of TOR signaling] GO:0033596[TSC1-TSC2 complex] GO:0042803[protein homodimerization activity] GO:0043276[anoikis] GO:0043491[protein kinase B signaling] GO:0043547[positive regulation of GTPase activity] GO:0046626[regulation of insulin receptor signaling pathway] GO:0046627[negative regulation of insulin receptor signaling pathway] GO:0048009[insulin-like growth factor receptor signaling pathway] GO:0048471[perinuclear region of cytoplasm] GO:0050918[positive chemotaxis] GO:0051056[regulation of small GTPase mediated signal transduction] GO:0051726[regulation of cell cycle] GO:0051879[Hsp90 protein binding] GO:0051898[negative regulation of protein kinase B signaling] GO:1901525[negative regulation of mitophagy]
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cardiovascular diseases Vascular diseases Congenital malformations Congenital malformations of the nervous system Other congenital malformations Nervous system diseases Other nervous and sensory system diseases Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001843[neural tube closure] GO:0005096[GTPase activator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0006469[negative regulation of protein kinase activity] GO:0006606[protein import into nucleus] GO:0006897[endocytosis] GO:0007507[heart development] GO:0008104[protein localization] GO:0008285[negative regulation of cell population proliferation] GO:0014067[negative regulation of phosphatidylinositol 3-kinase signaling] GO:0014069[postsynaptic density] GO:0016020[membrane] GO:0016192[vesicle-mediated transport] GO:0016239[positive regulation of macroautophagy] GO:0019902[phosphatase binding] GO:0030100[regulation of endocytosis] GO:0030178[negative regulation of Wnt signaling pathway] GO:0031267[small GTPase binding] GO:0032007[negative regulation of TOR signaling] GO:0033596[TSC1-TSC2 complex] GO:0042803[protein homodimerization activity] GO:0043276[anoikis] GO:0043491[protein kinase B signaling] GO:0043547[positive regulation of GTPase activity] GO:0046626[regulation of insulin receptor signaling pathway] GO:0046627[negative regulation of insulin receptor signaling pathway] GO:0048009[insulin-like growth factor receptor signaling pathway] GO:0048471[perinuclear region of cytoplasm] GO:0050918[positive chemotaxis] GO:0051056[regulation of small GTPase mediated signal transduction] GO:0051726[regulation of cell cycle] GO:0051879[Hsp90 protein binding] GO:0051898[negative regulation of protein kinase B signaling] GO:1901525[negative regulation of mitophagy]
X5D7Q2 [Target identity:100%; Query identity:100%] Tuberous sclerosis 2 isoform D
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Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cardiovascular diseases Vascular diseases Congenital malformations Congenital malformations of the nervous system Other congenital malformations Nervous system diseases Other nervous and sensory system diseases Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001843[neural tube closure] GO:0005096[GTPase activator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0006469[negative regulation of protein kinase activity] GO:0006606[protein import into nucleus] GO:0006897[endocytosis] GO:0007507[heart development] GO:0008104[protein localization] GO:0008285[negative regulation of cell population proliferation] GO:0014067[negative regulation of phosphatidylinositol 3-kinase signaling] GO:0014069[postsynaptic density] GO:0016020[membrane] GO:0016192[vesicle-mediated transport] GO:0016239[positive regulation of macroautophagy] GO:0019902[phosphatase binding] GO:0030100[regulation of endocytosis] GO:0030178[negative regulation of Wnt signaling pathway] GO:0031267[small GTPase binding] GO:0032007[negative regulation of TOR signaling] GO:0033596[TSC1-TSC2 complex] GO:0042803[protein homodimerization activity] GO:0043276[anoikis] GO:0043491[protein kinase B signaling] GO:0043547[positive regulation of GTPase activity] GO:0046626[regulation of insulin receptor signaling pathway] GO:0046627[negative regulation of insulin receptor signaling pathway] GO:0048009[insulin-like growth factor receptor signaling pathway] GO:0048471[perinuclear region of cytoplasm] GO:0050918[positive chemotaxis] GO:0051056[regulation of small GTPase mediated signal transduction] GO:0051726[regulation of cell cycle] GO:0051879[Hsp90 protein binding] GO:0051898[negative regulation of protein kinase B signaling] GO:1901525[negative regulation of mitophagy]
SCAMPI predicted membrane proteins TMHMM predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cardiovascular diseases Vascular diseases Congenital malformations Congenital malformations of the nervous system Other congenital malformations Nervous system diseases Other nervous and sensory system diseases Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cardiovascular diseases Vascular diseases Congenital malformations Congenital malformations of the nervous system Other congenital malformations Nervous system diseases Other nervous and sensory system diseases Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cardiovascular diseases Vascular diseases Congenital malformations Congenital malformations of the nervous system Other congenital malformations Nervous system diseases Other nervous and sensory system diseases Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
SCAMPI predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cardiovascular diseases Vascular diseases Congenital malformations Congenital malformations of the nervous system Other congenital malformations Nervous system diseases Other nervous and sensory system diseases Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
