|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:IRK1
gptkb:Potassium_inwardly-rectifying_channel,_subfamily_J,_member_2
|
|
gptkbp:associatedWith
|
gptkb:Andersen-Tawil_syndrome
gptkb:Familial_atrial_fibrillation
gptkb:Long_QT_syndrome
gptkb:Andersen-Tawil_syndrome_type_1
gptkb:Short_QT_syndrome
|
|
gptkbp:discoveredBy
|
Doupnik et al.
|
|
gptkbp:encodes
|
Kir2.1 protein
|
|
gptkbp:Entrez_Gene_ID
|
3759
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
heart
|
|
gptkbp:function
|
inward rectifier potassium channel activity
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
NM_000891.3
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:6252
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
17q24.3
|
|
gptkbp:mutationAssociatedWith
|
gptkb:arrhythmia
|
|
gptkbp:OMIM
|
600681
|
|
gptkbp:orthologInMouse
|
gptkb:Kcnj2
|
|
gptkbp:pathway
|
Cardiac action potential
Potassium transport
|
|
gptkbp:product
|
gptkb:Kir2.1
|
|
gptkbp:UniProtID
|
P63252
|
|
gptkbp:bfsParent
|
gptkb:Andersen-Tawil_syndrome
gptkb:HHIRK1
gptkb:IRK1
gptkb:KIR2.1
gptkb:LQT7
gptkb:Long_QT_syndrome_7
gptkb:hIRK1
gptkb:inward_rectifier_potassium_channel_1
gptkb:potassium_inwardly_rectifying_channel_subfamily_J_member_2
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
KCNJ2 gene
|