KCNJ2 (potassium inwardly rectifying channel subfamily J member 2)

2009-11-01  

Identity

HGNC
LOCATION
17q24.3
LOCUSID
ALIAS
ATFB9,HHBIRK1,HHIRK1,IRK1,KIR2.1,LQT7,SQT3
FUSION GENES

Other Information

Locus ID:

NCBI: 3759
MIM: 600681
HGNC: 6263
Ensembl: ENSG00000123700

Variants:

dbSNP: 3759
ClinVar: 3759
TCGA: ENSG00000123700
COSMIC: KCNJ2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123700ENST00000243457P63252
ENSG00000123700ENST00000535240P63252

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Gastric acid secretionKEGGko04971
Gastric acid secretionKEGGhsa04971
Cholinergic synapseKEGGhsa04725
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
Renin secretionKEGGhsa04924
Renin secretionKEGGko04924
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
GABA receptor activationREACTOMER-HSA-977443
GABA B receptor activationREACTOMER-HSA-977444
Activation of GABAB receptorsREACTOMER-HSA-991365
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunitsREACTOMER-HSA-997272
Potassium ChannelsREACTOMER-HSA-1296071
Inwardly rectifying K+ channelsREACTOMER-HSA-1296065
G protein gated Potassium channelsREACTOMER-HSA-1296059
Activation of G protein gated Potassium channelsREACTOMER-HSA-1296041
Classical Kir channelsREACTOMER-HSA-1296053
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Phase 4 - resting membrane potentialREACTOMER-HSA-5576886

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
124597832002Multiple forms of synaptic plasticity triggered by selective suppression of activity in individual neurons.213
193054092009Common variants at ten loci modulate the QT interval duration in the QTSCD Study.162
198413002009Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.107
172108392007Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.106
172108392007Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.106
159223062005A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation.104
121634572002Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).98
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
235430602013MicroRNA-26 governs profibrillatory inward-rectifier potassium current changes in atrial fibrillation.71
120323592002Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome.47

Citation

Dessen P

KCNJ2 (potassium inwardly rectifying channel subfamily J member 2)

Atlas Genet Cytogenet Oncol Haematol. 2009-11-01

Online version: http://atlasgeneticsoncology.org/gene/51201/kcnj2