KCNJ6 (potassium inwardly rectifying channel subfamily J member 6)

2007-02-01 Affiliation

Identity

HGNC

KCNJ6

LOCATION

21q22.13

LOCUSID

3763

ALIAS

BIR1,GIRK-2,GIRK2,KATP-2,KATP2,KCNJ7,KIR3.2,KPLBS,hiGIRK2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3763
MIM: 600877
HGNC: 6267
Ensembl: ENSG00000157542

Variants:

dbSNP: 3763
ClinVar: 3763
TCGA: ENSG00000157542
COSMIC: KCNJ6

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000157542	ENST00000609713	P48051
ENSG00000157542	ENST00000645093	P48051

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Cholinergic synapse	KEGG	hsa04725
GABAergic synapse	KEGG	ko04727
GABAergic synapse	KEGG	hsa04727
Dopaminergic synapse	KEGG	ko04728
Dopaminergic synapse	KEGG	hsa04728
Serotonergic synapse	KEGG	hsa04726
Retrograde endocannabinoid signaling	KEGG	hsa04723
Retrograde endocannabinoid signaling	KEGG	ko04723
Morphine addiction	KEGG	hsa05032
Morphine addiction	KEGG	ko05032
Circadian entrainment	KEGG	hsa04713
Circadian entrainment	KEGG	ko04713
Estrogen signaling pathway	KEGG	hsa04915
Estrogen signaling pathway	KEGG	ko04915
Oxytocin signaling pathway	KEGG	hsa04921
Oxytocin signaling pathway	KEGG	ko04921
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	REACTOME	R-HSA-112314
GABA receptor activation	REACTOME	R-HSA-977443
GABA B receptor activation	REACTOME	R-HSA-977444
Activation of GABAB receptors	REACTOME	R-HSA-991365
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits	REACTOME	R-HSA-997272
Potassium Channels	REACTOME	R-HSA-1296071
Inwardly rectifying K+ channels	REACTOME	R-HSA-1296065
G protein gated Potassium channels	REACTOME	R-HSA-1296059
Activation of G protein gated Potassium channels	REACTOME	R-HSA-1296041

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA164712362	Analgesics	Chemical	ClinicalAnnotation	associated	PD	19756153, 20220551
PA444460	Heroin Dependence	Disease	ClinicalAnnotation	associated	PD	20220551
PA445208	Pain	Disease	ClinicalAnnotation	associated	PD	19756153, 20220551, 27027462
PA445210	Pain, Postoperative	Disease	ClinicalAnnotation	associated	PD
PA449599	fentanyl	Chemical	ClinicalAnnotation	associated	PD
PA450401	methadone	Chemical	ClinicalAnnotation	associated	PD	20220551
PA450550	morphine	Chemical	ClinicalAnnotation	associated	PD	27027462

References

Pubmed ID	Year	Title	Citations
17135278	2007	Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs.	424
23739333	2013	X-ray structure of the mammalian GIRK2-βγ G-protein complex.	118
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
19567891	2009	Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept.	38
25620207	2015	Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.	34
22554406	2012	Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6.	33
14724209	2004	betaL-betaM loop in the C-terminal domain of G protein-activated inwardly rectifying K(+) channels is important for G(betagamma) subunit activation.	30
22252428	2012	GIRK2 expression in dopamine neurons of the substantia nigra and ventral tegmental area.	30
22178330	2012	Dysfunctional hippocampal inhibition in the Ts65Dn mouse model of Down syndrome.	25
24145411	2013	Molecular mechanism underlying ethanol activation of G-protein-gated inwardly rectifying potassium channels.	22

Citation

Dessen P

KCNJ6 (potassium inwardly rectifying channel subfamily J member 6)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45915/kcnj6