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gptkbp:instanceOf
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gptkb:gene
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|
gptkbp:alternativeName
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gptkb:TSC2
gptkb:tuberin
TSC complex subunit 2
|
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gptkbp:associatedWith
|
gptkb:tuberous_sclerosis_complex
|
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gptkbp:biologicalProcess
|
gptkb:GTPase-activating_protein_for_Rheb
|
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gptkbp:discoveredBy
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gptkb:European_Chromosome_16_Tuberous_Sclerosis_Consortium
|
|
gptkbp:discoveredIn
|
1993
|
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gptkbp:encodes
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gptkb:tuberin
|
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gptkbp:Entrez_Gene_ID
|
7249
|
|
gptkbp:expressedIn
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gptkb:cancer
gptkb:kidney
brain
heart
liver
|
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gptkbp:fullName
|
gptkb:tuberous_sclerosis_complex_2
|
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gptkbp:function
|
gptkb:tumor_suppressor
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:12363
|
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gptkbp:interactsWith
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gptkb:TSC1_gene
|
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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:intellectual_disability
gptkb:renal_cell_carcinoma
gptkb:pheochromocytoma
gptkb:autism_spectrum_disorder
gptkb:lung_lymphangioleiomyomatosis
gptkb:pancreatic_neuroendocrine_tumors
gptkb:subependymal_giant_cell_astrocytoma
epilepsy
renal failure
nonsense
hypertension
missense
proteinuria
polycystic kidney disease
learning disabilities
neuropsychiatric disorders
seizures
developmental delay
frameshift
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
gptkb:cellular_stress_response
apoptosis
metabolism
cell cycle progression
protein translation
cell size
|
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gptkbp:UniProtID
|
gptkb:P49815
|
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gptkbp:bfsParent
|
gptkb:TSC2
gptkb:tuberin-hamartin_complex
gptkb:tuberous_sclerosis
gptkb:tuberous_sclerosis_complex
gptkb:Lymphangioleiomyomatosis
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
TSC2 gene
|