Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
hamartin gene
|
| gptkbp:associatedWith |
gptkb:tuberous_sclerosis_complex
|
| gptkbp:discoveredIn |
1997
|
| gptkbp:encodes |
gptkb:hamartin
|
| gptkbp:Entrez_Gene_ID |
7248
|
| gptkbp:expressedIn |
various tissues
|
| gptkbp:formsComplexWith |
gptkb:Tsc2
|
| gptkbp:HGNC_ID |
gptkb:HGNC:12362
|
| https://www.w3.org/2000/01/rdf-schema#label |
Tsc1
|
| gptkbp:interactsWith |
Tsc2 protein
|
| gptkbp:involvedIn |
cell growth regulation
tumor suppression |
| gptkbp:locatedOn |
gptkb:chromosome_9q34
|
| gptkbp:mutationAssociatedWith |
gptkb:tuberous_sclerosis
loss-of-function |
| gptkbp:OMIM |
605284
|
| gptkbp:orthologInMouse |
Tsc1 (mouse)
|
| gptkbp:product |
gptkb:hamartin
|
| gptkbp:regulates |
gptkb:mTOR_pathway
|
| gptkbp:UniProtID |
O60729
|
| gptkbp:bfsParent |
gptkb:TSC1
|
| gptkbp:bfsLayer |
6
|