| GENE NAME | TSC2 |
| CHROMOSOME | 16 |
| ENSEMBL ID | ENSG00000103197 |
| ENTREZ ID | 7249 |
| UNIPROT ACCESSION NUMBER | P49815 |
| GO MOLECULAR FUNCTION | GTPase activator activity; small GTPase binding; protein binding; phosphatase binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-380972; R-HSA-5653656; hsa04150; hsa04714; R-HSA-73857; hsa04140; hsa04919; hsa04151; R-HSA-1643685; R-HSA-5628897; R-HSA-9007101; hsa05231; R-HSA-2219528; hsa04211; hsa04115; R-HSA-1632852; R-HSA-5674400; R-HSA-199991; hsa04218; R-HSA-212436; R-HSA-3700989; hsa05163; R-HSA-9612973; hsa05165; hsa05168; R-HSA-1257604; R-HSA-162582; R-HSA-9006925; R-HSA-165159; R-HSA-165181; R-HSA-198323; hsa04152; hsa04910; R-HSA-5663202; R-HSA-74160; hsa04072; R-HSA-8854214 |
| 5 combinations linked to TSC2 | OLI484; OLI480; OLI475; OLI485; OLI496 |
| 6 variants linked to TSC2 | TSC2:c.2032G>A, p.Ala678Thr; TSC2:; TSC2:; TSC2:; TSC2:; TSC2: |
| 1 disease linked to TSC2 | Rare pervasive developmental disorder |