Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
ATP7B
|
| gptkbp:associatedWith |
gptkb:Wilson_disease
|
| gptkbp:discoveredBy |
gptkb:Peter_Bull
|
| gptkbp:encodes |
Copper-transporting ATPase 2
|
| gptkbp:expressedIn |
gptkb:kidney
brain liver |
| gptkbp:function |
copper transport
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
ATP7B
|
| https://www.w3.org/2000/01/rdf-schema#label |
Wilson disease gene
|
| gptkbp:locatedOnChromosome |
chromosome 13q14.3
|
| gptkbp:mutationAssociatedWith |
nonsense
missense frameshift splice-site copper accumulation |
| gptkbp:OMIM |
606882
|
| gptkbp:orthologInMouse |
gptkb:Atp7b
|
| gptkbp:UniProtID |
P35670
|
| gptkbp:bfsParent |
gptkb:ATP7B_gene
|
| gptkbp:bfsLayer |
8
|