|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:TSC2_gene
gptkb:tuberin_gene
|
|
gptkbp:associatedWith
|
gptkb:tuberous_sclerosis
|
|
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:expressedIn
|
gptkb:cancer
gptkb:skin
gptkb:kidney
brain
heart
|
|
gptkbp:fullName
|
gptkb:tuberous_sclerosis_complex_2
|
|
gptkbp:function
|
tumor suppressor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:12363
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
TSC2
|
|
gptkbp:inhibitedBy
|
gptkb:Rheb
|
|
gptkbp:interactsWith
|
gptkb:TSC1
|
|
gptkbp:involvedIn
|
gptkb:mTOR_signaling_pathway
gptkb:PI3K-Akt_signaling_pathway
cell cycle regulation
tumor suppression
|
|
gptkbp:length
|
1807 amino acids
|
|
gptkbp:locatedOnChromosome
|
16p13.3
|
|
gptkbp:mutationAssociatedWith
|
gptkb:tuberous_sclerosis_complex
gptkb:lung_lymphangioleiomyomatosis
gptkb:renal_angiomyolipomas
epilepsy
nonsense
missense
neurological symptoms
frameshift
hamartomas
skin lesions
splice site
benign tumors
|
|
gptkbp:OMIM
|
191092
|
|
gptkbp:orthologInMouse
|
gptkb:Tsc2
|
|
gptkbp:product
|
gptkb:tuberin
|
|
gptkbp:regulates
|
gptkb:mTOR_pathway
cell differentiation
cell proliferation
cell growth
cell migration
protein synthesis
autophagy
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:UniProtID
|
gptkb:P49815
|
|
gptkbp:bfsParent
|
gptkb:AKT_signaling_pathway
gptkb:PI3K/AKT/mTOR_pathway
gptkb:mTOR_pathway
|
|
gptkbp:bfsLayer
|
5
|