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gptkbp:instanceOf
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gptkb:gene
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gptkbp:alternativeName
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gptkb:KCNH2
ether-à-go-go-related gene
potassium voltage-gated channel subfamily H member 2
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gptkbp:associatedWith
|
gptkb:seizure
gptkb:torsades_de_pointes
sudden infant death syndrome
fainting
sudden cardiac death
syncope
ventricular arrhythmia
long QT syndrome type 2
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gptkbp:clinicalTrialPhase
|
genetic testing for LQTS2
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gptkbp:discoveredBy
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gptkb:Mark_Keating
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gptkbp:discoveredIn
|
1994
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gptkbp:encodes
|
Kv11.1 potassium channel
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gptkbp:Entrez_Gene_ID
|
3757
ENSG00000055118
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gptkbp:expressedIn
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gptkb:nervous_system
heart
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gptkbp:function
|
mediates IKr current in cardiac action potential
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gptkbp:geneType
|
protein-coding
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gptkbp:hasTranscriptVariant
|
multiple
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gptkbp:HGNC_ID
|
6251
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|
https://www.w3.org/2000/01/rdf-schema#label
|
HERG (KCNH2)
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gptkbp:inhibitedBy
|
gptkb:methadone
gptkb:erythromycin
gptkb:cisapride
gptkb:fluoxetine
gptkb:haloperidol
quinidine
amiodarone
dofetilide
sotalol
terfenadine
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|
gptkbp:length
|
16 exons
1159 amino acids
|
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gptkbp:locatedOnChromosome
|
7q36.1
|
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gptkbp:mutationAssociatedWith
|
can cause cardiac arrhythmia
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gptkbp:OMIM
|
152427
|
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gptkbp:orthologInMouse
|
gptkb:Kcnh2
|
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gptkbp:orthologInZebrafish
|
kcnh2
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gptkbp:product
|
HERG channel
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gptkbp:proteinFamily
|
voltage-gated potassium channels
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gptkbp:RefSeq
|
NM_000238
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gptkbp:significance
|
drug-induced long QT syndrome
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gptkbp:subunit
|
tetramer
|
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gptkbp:UniProtID
|
gptkb:Q12809
|
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gptkbp:bfsParent
|
gptkb:KCNE2
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gptkbp:bfsLayer
|
7
|