KCNJ5 (potassium inwardly rectifying channel subfamily J member 5)

2007-02-01  

Identity

HGNC
LOCATION
11q24.3
LOCUSID
ALIAS
CIR,GIRK4,KATP1,KIR3.4,LQT13
FUSION GENES

Other Information

Locus ID:

NCBI: 3762
MIM: 600734
HGNC: 6266
Ensembl: ENSG00000120457

Variants:

dbSNP: 3762
ClinVar: 3762
TCGA: ENSG00000120457
COSMIC: KCNJ5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120457ENST00000338350P48544
ENSG00000120457ENST00000529694P48544
ENSG00000120457ENST00000533599P48544

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Dopaminergic synapseKEGGko04728
Dopaminergic synapseKEGGhsa04728
Serotonergic synapseKEGGhsa04726
Retrograde endocannabinoid signalingKEGGhsa04723
Retrograde endocannabinoid signalingKEGGko04723
Morphine addictionKEGGhsa05032
Morphine addictionKEGGko05032
Circadian entrainmentKEGGhsa04713
Circadian entrainmentKEGGko04713
Estrogen signaling pathwayKEGGhsa04915
Estrogen signaling pathwayKEGGko04915
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
213110222011K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.234
248661322014Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma.74
223084862012Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.61
222755272012Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism.54
205602072010Identification of a Kir3.4 mutation in congenital long QT syndrome.49
223154532012Potassium channel mutant KCNJ5 T158A expression in HAC-15 cells increases aldosterone synthesis.49
215862912011Effects of KATP channel openers diazoxide and pinacidil in coronary-perfused atria and ventricles from failing and non-failing human hearts.45
222784222012Expression and mutations of KCNJ5 mRNA in Japanese patients with aldosterone-producing adenomas.42
224422792012Microarray, qPCR, and KCNJ5 sequencing of aldosterone-producing adenomas reveal differences in genotype and phenotype between zona glomerulosa- and zona fasciculata-like tumors.42
228486602012Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.42

Citation

Dessen P

KCNJ5 (potassium inwardly rectifying channel subfamily J member 5)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46270/kcnj5