TSC2
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| TSC complex subunit 2 | MIM:191092 | Ensembl:ENSG00000103197 | HGNC:HGNC:12363 | PA37035 | 16p13.3 |
GO terms in TSC2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0005096 | GTPase activator activity |
| MF | IDA | GO:0005096 | GTPase activator activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0019902 | phosphatase binding |
| MF | IPI | GO:0031267 | small GTPase binding |
| MF | IPI | GO:0042803 | protein homodimerization activity |
| MF | IPI | GO:0051879 | Hsp90 protein binding |
| BP | ISS | GO:0001843 | neural tube closure |
| BP | ISS | GO:0006469 | negative regulation of protein kinase activity |
| BP | ISS | GO:0006606 | protein import into nucleus |
| BP | TAS | GO:0006897 | endocytosis |
| BP | ISS | GO:0007507 | heart development |
| BP | ISS | GO:0008104 | protein localization |
| BP | ISS | GO:0008285 | negative regulation of cell proliferation |
| BP | ISS | GO:0014067 | negative regulation of phosphatidylinositol 3-kinase signaling |
| BP | IEA | GO:0016032 | viral process |
| BP | TAS | GO:0016192 | vesicle-mediated transport |
| BP | IGI | GO:0016239 | positive regulation of macroautophagy |
| BP | ISS | GO:0030100 | regulation of endocytosis |
| BP | IBA | GO:0030178 | negative regulation of Wnt signaling pathway |
| BP | IBA | GO:0032007 | negative regulation of TOR signaling |
| BP | IGI | GO:0032007 | negative regulation of TOR signaling |
| BP | IGI | GO:0043276 | anoikis |
| BP | ISS | GO:0043491 | protein kinase B signaling |
| BP | IEA | GO:0043547 | positive regulation of GTPase activity |
| BP | ISS | GO:0046626 | regulation of insulin receptor signaling pathway |
| BP | IBA | GO:0046627 | negative regulation of insulin receptor signaling pathway |
| BP | ISS | GO:0048009 | insulin-like growth factor receptor signaling pathway |
| BP | ISS | GO:0050918 | positive chemotaxis |
| BP | IEA | GO:0051056 | regulation of small GTPase mediated signal transduction |
| BP | IBA | GO:0051726 | regulation of cell cycle |
| BP | IBA | GO:0051898 | negative regulation of protein kinase B signaling |
| BP | ISS | GO:0051898 | negative regulation of protein kinase B signaling |
| BP | NAS | GO:1901525 | negative regulation of mitophagy |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005764 | lysosome |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0016020 | membrane |
| CC | IBA | GO:0033596 | TSC1-TSC2 complex |
| CC | IDA | GO:0033596 | TSC1-TSC2 complex |
| CC | IDA | GO:0048471 | perinuclear region of cytoplasm |
Gene expression in normal tissue: TSC2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TSC2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1257604 | PIP3 activates AKT signaling |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1632852 | Macroautophagy |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-165159 | mTOR signalling |
| reactome | R-HSA-165181 | Inhibition of TSC complex formation by PKB |
| reactome | R-HSA-198323 | AKT phosphorylates targets in the cytosol |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-2219528 | PI3K/AKT Signaling in Cancer |
| reactome | R-HSA-3700989 | Transcriptional Regulation by TP53 |
| reactome | R-HSA-380972 | Energy dependent regulation of mTOR by LKB1-AMPK |
| reactome | R-HSA-5628897 | TP53 Regulates Metabolic Genes |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-5663202 | Diseases of signal transduction |
| reactome | R-HSA-5674400 | Constitutive Signaling by AKT1 E17K in Cancer |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8854214 | TBC/RABGAPs |
| reactome | R-HSA-8953897 | Cellular responses to external stimuli |
| reactome | R-HSA-9006925 | Intracellular signaling by second messengers |
| reactome | R-HSA-9007101 | Rab regulation of trafficking |
| biocarta | mtorpathway | mtor signaling pathway |
| kegg | hsa04072 | Phospholipase D signaling pathway - Homo sapiens (human) |
| kegg | hsa04115 | p53 signaling pathway - Homo sapiens (human) |
| kegg | hsa04140 | Autophagy - animal - Homo sapiens (human) |
| kegg | hsa04150 | mTOR signaling pathway - Homo sapiens (human) |
| kegg | hsa04151 | PI3K-Akt signaling pathway - Homo sapiens (human) |
| kegg | hsa04152 | AMPK signaling pathway - Homo sapiens (human) |
| kegg | hsa04211 | Longevity regulating pathway - Homo sapiens (human) |
| kegg | hsa04218 | Cellular senescence - Homo sapiens (human) |
| kegg | hsa04714 | Thermogenesis - Homo sapiens (human) |
| kegg | hsa04910 | Insulin signaling pathway - Homo sapiens (human) |
| kegg | hsa04919 | Thyroid hormone signaling pathway - Homo sapiens (human) |
| kegg | hsa05165 | Human papillomavirus infection - Homo sapiens (human) |
| kegg | hsa05231 | Choline metabolism in cancer - Homo sapiens (human) |
| pid | lkb1_pathway | LKB1 signaling events |
| pid | mtor_4pathway | mTOR signaling pathway |
| pid | myc_represspathway | Validated targets of C-MYC transcriptional repression |
| pid | p38_mk2pathway | p38 signaling mediated by MAPKAP kinases |
| pid | p53downstreampathway | Direct p53 effectors |
| smpdb | SMP00682 | Leucine Stimulation on Insulin Signaling |
| wikipathways | WP1403 | AMP-activated Protein Kinase (AMPK) Signaling |
| wikipathways | WP1471 | Target Of Rapamycin (TOR) Signaling |
| wikipathways | WP1984 | Integrated Breast Cancer Pathway |
| wikipathways | WP2035 | Follicle Stimulating Hormone (FSH) signaling pathway |
| wikipathways | WP2261 | Signaling Pathways in Glioblastoma |
| wikipathways | WP2380 | Brain-Derived Neurotrophic Factor (BDNF) signaling pathway |
| wikipathways | WP2509 | Nanoparticle triggered autophagic cell death |
| wikipathways | WP2571 | Polycystic Kidney Disease Pathway |
| wikipathways | WP363 | Wnt Signaling Pathway |
| wikipathways | WP3676 | BDNF-TrkB Signaling |
| wikipathways | WP3844 | PI3K-AKT-mTOR signaling pathway and therapeutic opportunities |
| wikipathways | WP3878 | ATM Signaling Network in Development and Disease |
| wikipathways | WP3915 | Angiopoietin Like Protein 8 Regulatory Pathway |
| wikipathways | WP3932 | Focal Adhesion-PI3K-Akt-mTOR-signaling pathway |
| wikipathways | WP4018 | Pathways in clear cell renal cell carcinoma |
| wikipathways | WP4141 | PI3K-AKT-mTOR - VitD3 Signalling |
| wikipathways | WP4172 | PI3K-Akt Signaling Pathway |
| wikipathways | WP481 | Insulin Signaling |
| wikipathways | WP727 | Monoamine Transport |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD882 | CIL41 | 3 |
| iGMDRD119 | Temsirolimus | 2 |
| iGMDRD286 | Nsc 632839 | 3 |
| iGMDRD329 | Merck60 | 6 |
| iGMDRD147 | Prima-1 | 2 |
| iGMDRD263 | AACOCF3 | 3 |
| iGMDRD246 | NPC26 | 2 |
| iGMDRD505 | Pevonedistat | 2 |
| iGMDRD353 | PD0325901 | 1 |
| iGMDRD137 | Indisulam | 6 |
| iGMDRD949 | mTOR inhibitor | 9 |
| iGMDRD103 | SN-38 | 3 |
| iGMDRD310 | Everolimus | 17 |
| iGMDRD434 | BMS-536924 | 5 |
| iGMDRD105 | Triptolide | 4 |
| iGMDRD289 | Parthenolide | 3 |
| iGMDRD213 | SMR000068650 | 2 |
| iGMDRD85 | Ursolic acid | 2 |
| iGMDRD351 | GW843682X | 2 |
| iGMDRD57 | Chloropentafluorobenzene | 2 |
| iGMDRD123 | Isoevodiamine | 2 |
| iGMDRD511 | CHEMBL399379 | 2 |
| iGMDRD945 | ML214 | 2 |
| iGMDRD883 | CIL55A | 2 |
| iGMDRD154 | NSC23766 | 5 |
| iGMDRD248 | BRD4354 | 1 |
| iGMDRD512 | nutlin 3 | 2 |
| iGMDRD583 | LDN 193189 | 1 |
| iGMDRD79 | Gemcitabine | 2 |
| iGMDRD74 | Idarubicin | 2 |
| iGMDRD188 | Piperlongumine | 4 |
| iGMDRD100 | Zebularine | 4 |
| iGMDRD780 | PP-30 | 2 |
| iGMDRD562 | Navitoclax | 4 |
| iGMDRD888 | Compound 44 | 2 |
| iGMDRD577 | BIX01294 | 2 |
| iGMDRD690 | PRIMA-1MET | 2 |
| iGMDRD513 | BML-259 | 1 |
| iGMDRD255 | SB225002 | 2 |
| iGMDRD802 | 4-methylfasudil | 3 |
| iGMDRD52 | Rotenone | 1 |
| iGMDRD870 | BRD63610 | 1 |
| iGMDRD801 | 2,4-dideoxy-DC-45-A2 | 1 |
| iGMDRD441 | TW 37 | 1 |
| iGMDRD1009 | SRC inhibitor | 3 |
| iGMDRD61 | Kinetin riboside | 1 |
| iGMDRD316 | N9-Isopropyl-olomoucine | 1 |
| iGMDRD718 | Pyrvinium pamoate | 1 |
| iGMDRD142 | NSC74859 | 3 |
| iGMDRD280 | CYTOCHALASIN B | 6 |
| iGMDRD466 | Chaetocin | 8 |
| iGMDRD634 | SCHEMBL2608041 | 3 |
| iGMDRD554 | CHEMBL1434137 | 2 |
| iGMDRD126 | Tipifarnib | 1 |
| iGMDRD1008 | SR-II-138A | 3 |
| iGMDRD772 | BRD4770 | 3 |
| iGMDRD781 | Sirolimus | 4 |
| iGMDRD483 | SCH-529074 | 3 |
| iGMDRD494 | Neopeltolide | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TSC2
CLASSFICATION
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