| Gene Symbol | TSC2 |
| Full Name | Tuberous Sclerosis Complex 2 |
| Function | The TSC1-TSC2 heterodimer localizes primarily to the cytoplasm and intracellular membranes, where it senses cellular energy status and growth factor signals. |
| Primary Expression | neurons and regulates synaptic function |
| Subcellular Localization | synapses and regulates dendritic spine morphology and synaptic plasticity |
| Molecular Weight | 200 kDa |
| Amino Acids | 807 aa |
| Pathways | mTOR, mtor, AMPK, PI3K |
| Ensembl ID | ENSG00000103197 |
| GeneCards | TSC2 |
| Human Protein Atlas | TSC2 |
| Inhibition of Rheb | The GAP activity of TSC2 converts active GTP-bound Rheb to inactive GDP-bound Rheb, thereby inhibiting mTORC1 activation<sup>[2]</sup> |
| Energy sensing | TSC2 senses cellular energy (AMP/ATP ratio) through AMPK activation, inhibiting mTORC1 during energy deprivation |
| Growth factor regulation | PI3K/Akt signaling phosphorylates and inhibits TSC2, allowing mTORC1 activation in response to growth factors |
| Cell cycle control | TSC2 loss leads to uncontrolled cell proliferation |
| Associated Diseases | ALS, Diabetes, epilepsy, Ms, neurodegeneration, Parkinson |
| Known Drugs/Compounds | rapamycin |
| Interactions | ACETYL-COA, ACTB, Akt, AKT, AKT1, AKT3 |
| KG Connections | 346 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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