KCNJ2 (potassium inwardly rectifying channel subfamily J member 2)

2009-11-01  

Identity

HGNC
KCNJ2
LOCATION
17q24.3
LOCUSID
3759
ALIAS
ATFB9,HHBIRK1,HHIRK1,IRK1,KIR2.1,LQT7,SQT3
FUSION GENES
Show Gene Fusions

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
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

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382617262024The Kir2.1E299V mutation increases atrial fibrillation vulnerability while protecting the ventricles against arrhythmias in a mouse model of short QT syndrome type 3.1
386725232024Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report.0
382617262024The Kir2.1E299V mutation increases atrial fibrillation vulnerability while protecting the ventricles against arrhythmias in a mouse model of short QT syndrome type 3.1
386725232024Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report.0
370617382023Overexpression of KCNJ2 enhances maturation of human-induced pluripotent stem cell-derived cardiomyocytes.2
371842792023Activation of Kir2.1 improves myocardial fibrosis by inhibiting Ca (2+) overload and the TGF-β1/Smad signaling pathway.2
370617382023Overexpression of KCNJ2 enhances maturation of human-induced pluripotent stem cell-derived cardiomyocytes.2
371842792023Activation of Kir2.1 improves myocardial fibrosis by inhibiting Ca (2+) overload and the TGF-β1/Smad signaling pathway.2
342554212022Association analysis of SNPs in GRHL3, FAF1, and KCNJ2 with NSCPO sub-phenotypes in Han Chinese.0
348219952022A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.1
348902782022Differential effects of obesity on visceral versus subcutaneous adipose arteries: role of shear-activated Kir2.1 and alterations to the glycocalyx.8
352731412022Elevated Kir2.1/nuclear N2ICD defines a highly malignant subtype of non-WNT/SHH medulloblastomas.1
353634052022α(1) -Adrenoceptors activate the NLRP3 inflammasome through downregulation of Kir2.1 in cardiac inflammation.1
357290932022Kir2.1-mediated membrane potential promotes nutrient acquisition and inflammation through regulation of nutrient transporters.7
361499652022Cryo-electron microscopy unveils unique structural features of the human Kir2.1 channel.9

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