Statements (24)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
HERG
ether-à-go-go-related gene |
gptkbp:associatedWith |
long QT syndrome type 2
|
gptkbp:discoveredIn |
1994
|
gptkbp:encodes |
hERG potassium channel
|
gptkbp:Entrez_Gene_ID |
3757
ENSG00000055118 |
gptkbp:expressedIn |
heart
|
gptkbp:function |
potassium ion transport
|
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
gptkb:HGNC:6251
|
https://www.w3.org/2000/01/rdf-schema#label |
Kcnh2
|
gptkbp:locatedOnChromosome |
7q36.1
|
gptkbp:mutationAssociatedWith |
gptkb:arrhythmia
|
gptkbp:OMIM |
152427
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse |
Kcnh2 (mouse)
|
gptkbp:product |
Kv11.1
|
gptkbp:RefSeq |
NM_000238
|
gptkbp:UniProtID |
gptkb:Q12809
|
gptkbp:bfsParent |
gptkb:KCNH2
gptkb:O60500 |
gptkbp:bfsLayer |
7
|