Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:ERG1
HERG |
| gptkbp:associatedWith |
Long QT syndrome type 2
|
| gptkbp:discoveredBy |
gptkb:Mark_Keating
|
| gptkbp:encodes |
hERG potassium channel
|
| gptkbp:Entrez_Gene_ID |
3757
ENSG00000055118 |
| gptkbp:expressedIn |
heart
|
| gptkbp:function |
potassium ion transport
regulation of cardiac action potential |
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
gptkb:HGNC:6251
|
| https://www.w3.org/2000/01/rdf-schema#label |
KCNH2 gene
|
| gptkbp:locatedOnChromosome |
7q36.1
|
| gptkbp:mutationAssociatedWith |
gptkb:arrhythmia
|
| gptkbp:OMIM |
152427
|
| gptkbp:orthologInMouse |
gptkb:Kcnh2
|
| gptkbp:proteinFamily |
gptkb:voltage-gated_potassium_channel
|
| gptkbp:UniProtID |
gptkb:Q12809
|
| gptkbp:bfsParent |
gptkb:O60500
gptkb:LQT2 |
| gptkbp:bfsLayer |
7
|