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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
NameTSC complex subunit 2
OMIM IDMIM:191092
Ensembl IDEnsembl:ENSG00000103197
HGNC IDHGNC:HGNC:12363
PHARMGKB IDPA37035
Map Location16p13.3

GO terms in TSC2


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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
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Gene expression in normal tissue: TSC2

16 tissues mixtureadiposeadrenalbrainbreastcolonheartkidneyliverlunglymph nodeovaryprostateskeletal muscletestesthyroidwhite blood cells

Gene-model tissue-cancer distribution: Bubble Plot

OVARtissue: OVAR cancer: OVARY model num: 0OVARYtissue: OVARY cancer: undefined model num: 11undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 89undefinedtissue: undefined cancer: ADENOCARCINOMA model num: 5undefinedtissue: undefined cancer: SMALL_CELL_CARCINOMA model num: 3BOWEtissue: BOWE cancer: BOWEL model num: 0BOWELtissue: BOWEL cancer: undefined model num: 8LUNtissue: LUN cancer: LUNG model num: 0LUNGtissue: LUNG cancer: undefined model num: 26LUNGtissue: LUNG cancer: Pulmonary Lymphangiomyomatosis (LAM) model num: 3KIDNEtissue: KIDNE cancer: KIDNEY model num: 0KIDNEYtissue: KIDNEY cancer: Renal Angiomyolipoma (RAML) model num: 7THYROItissue: THYROI cancer: THYROID model num: 0THYROIDtissue: THYROID cancer: Medullary Thyroid Cancer (THME) model num: 1THYROIDtissue: THYROID cancer: Thyroid Cancer model num: 2BLADDEtissue: BLADDE cancer: BLADDER model num: 0BLADDERtissue: BLADDER cancer: Bladder Urothelial Carcinoma (BLCA) model num: 1BRAItissue: BRAI cancer: BRAIN model num: 0BRAINtissue: BRAIN cancer: Astrocytoma (ASTR) model num: 1BRAINtissue: BRAIN cancer: Glioma model num: 10UTERUtissue: UTERU cancer: UTERUS model num: 0UTERUStissue: UTERUS cancer: Endometrial Carcinoma (UCEC) model num: 2STOMACtissue: STOMAC cancer: STOMACH model num: 0STOMACHtissue: STOMACH cancer: Esophagogastric Carcinoma model num: 1SOFT_TISSUtissue: SOFT_TISSU cancer: SOFT_TISSUE model num: 0SOFT_TISSUEtissue: SOFT_TISSUE cancer: Perivascular Epithelioid Cell Tumor (PECOMA) model num: 3

Gene-drug pathway distribution

Pathways in TSC2


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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
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD882 CIL41 3
iGMDRD119 Temsirolimus 2
iGMDRD286 Nsc 632839 3
iGMDRD329 Merck60 6
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in TSC2

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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