Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:Wilson_disease_gene
gptkb:copper-transporting_ATPase_2 WND |
| gptkbp:associatedWith |
gptkb:Wilson's_disease
|
| gptkbp:discoveredBy |
gptkb:Peter_Bull
|
| gptkbp:encodes |
ATPase copper transporting beta (ATP7B protein)
|
| gptkbp:Entrez_Gene_ID |
540
|
| gptkbp:expressedIn |
gptkb:kidney
liver |
| gptkbp:function |
copper homeostasis
copper transport |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
gptkb:HGNC:874
|
| https://www.w3.org/2000/01/rdf-schema#label |
ATP7B gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_13
gptkb:13q14.3 |
| gptkbp:mutationAssociatedWith |
copper accumulation in liver and brain
|
| gptkbp:OMIM |
606882
|
| gptkbp:orthologInMouse |
gptkb:Atp7b
|
| gptkbp:UniProtID |
P35670
|
| gptkbp:bfsParent |
gptkb:Wilson's_disease
|
| gptkbp:bfsLayer |
7
|