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 |
|---|---|---|---|---|---|
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 |
Gene expression in normal tissue: TSC2
Gene-model tissue-cancer distribution: Bubble Plot
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 |
Gene-Drug: Aster Plot
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 | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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