Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alsoKnownAs |
gptkb:TSC2
|
gptkbp:associatedWith |
gptkb:tuberous_sclerosis_complex
|
gptkbp:discoveredIn |
1993
|
gptkbp:encodes |
tuberin protein
|
gptkbp:expressedIn |
various tissues
|
gptkbp:formsComplexWith |
TSC1 gene product
|
https://www.w3.org/2000/01/rdf-schema#label |
tuberin gene
|
gptkbp:interactsWith |
hamartin protein
|
gptkbp:involvedIn |
gptkb:mTOR_signaling_pathway
|
gptkbp:locatedOnChromosome |
16p13.3
|
gptkbp:mutationAssociatedWith |
gptkb:tuberous_sclerosis
nonsense deletion missense splicing frameshift |
gptkbp:OMIM |
191092
|
gptkbp:regulates |
cell proliferation
cell growth |
gptkbp:UniProtID |
gptkb:P49815
|
gptkbp:bfsParent |
gptkb:TSC2
|
gptkbp:bfsLayer |
6
|