Statements (87)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:TSC2
gptkb:tuberin TSC complex subunit 2 |
| gptkbp:associatedWith |
gptkb:tuberous_sclerosis_complex
|
| gptkbp:biologicalProcess |
gptkb:GTPase-activating_protein_for_Rheb
|
| gptkbp:discoveredBy |
gptkb:European_Chromosome_16_Tuberous_Sclerosis_Consortium
|
| gptkbp:discoveredIn |
1993
|
| gptkbp:encodes |
gptkb:tuberin
|
| gptkbp:Entrez_Gene_ID |
7249
|
| gptkbp:expressedIn |
gptkb:cancer
gptkb:kidney brain heart liver |
| gptkbp:fullName |
gptkb:tuberous_sclerosis_complex_2
|
| gptkbp:function |
tumor suppressor
|
| gptkbp:HGNC_ID |
gptkb:HGNC:12363
|
| https://www.w3.org/2000/01/rdf-schema#label |
TSC2 gene
|
| gptkbp:interactsWith |
gptkb:TSC1_gene
|
| gptkbp:involvedIn |
cell differentiation
cell proliferation angiogenesis cell migration protein synthesis cell growth regulation neuronal development autophagy tumor suppression |
| gptkbp:length |
1807 amino acids
|
| gptkbp:locatedOnChromosome |
16p13.3
|
| gptkbp:mutationAssociatedWith |
gptkb:pheochromocytoma
gptkb:autism_spectrum_disorder gptkb:lung_lymphangioleiomyomatosis gptkb:pancreatic_neuroendocrine_tumors gptkb:subependymal_giant_cell_astrocytoma epilepsy renal failure nonsense hypertension intellectual disability missense proteinuria polycystic kidney disease learning disabilities neuropsychiatric disorders seizures developmental delay frameshift renal cell carcinoma skin lesions behavioral problems splice site large deletions cardiac rhabdomyoma cortical tubers facial angiofibromas hypomelanotic macules renal angiomyolipoma shagreen patches pulmonary cysts benign and malignant tumors bone cysts dental enamel pits gingival fibromas liver hamartoma renal cysts retinal achromic patch retinal hamartoma tuberous sclerosis complex type 2 ungual fibromas |
| gptkbp:OMIM |
191092
|
| gptkbp:orthologInMouse |
gptkb:Tsc2
|
| gptkbp:product |
gptkb:tuberin
|
| gptkbp:regulates |
gptkb:Rheb
gptkb:mTORC1 gptkb:mTOR_pathway apoptosis metabolism cell cycle progression cellular stress response protein translation cell size |
| gptkbp:UniProtID |
gptkb:P49815
|
| gptkbp:bfsParent |
gptkb:TSC2
gptkb:tuberous_sclerosis_complex |
| gptkbp:bfsLayer |
6
|