KCNJ5 (potassium inwardly rectifying channel subfamily J member 5)

2007-02-01  

Identity

HGNC
KCNJ5
LOCATION
11q24.3
LOCUSID
3762
ALIAS
CIR,GIRK4,KATP1,KIR3.4,LQT13
FUSION GENES
Show Gene Fusions

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
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
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
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
369506762023Cardiovascular and metabolic characters of KCNJ5 somatic mutations in primary aldosteronism.3
374639832023KCNJ5 mutation is a predictor for recovery of endothelial function after adrenalectomy in patients with aldosterone-producing adenoma.0
378949772023The W101C KCNJ5 Mutation Induces Slower Pacing by Constitutively Active GIRK Channels in hiPSC-Derived Cardiomyocytes.2
369506762023Cardiovascular and metabolic characters of KCNJ5 somatic mutations in primary aldosteronism.3
374639832023KCNJ5 mutation is a predictor for recovery of endothelial function after adrenalectomy in patients with aldosterone-producing adenoma.0
378949772023The W101C KCNJ5 Mutation Induces Slower Pacing by Constitutively Active GIRK Channels in hiPSC-Derived Cardiomyocytes.2
349575622022A revised mechanism of action of hyperaldosteronism-linked mutations in cytosolic domains of GIRK4 (KCNJ5).3
353112272022KCNJ5 Somatic Mutation Is Associated With Higher Aortic Wall Thickness and Less Calcification in Patients With Aldosterone-Producing Adenoma.1
357792522022Histopathology and Genetic Causes of Primary Aldosteronism in Young Adults.3
360123062022Clinical Translationality of KCNJ5 Mutation in Aldosterone Producing Adenoma.4
349575622022A revised mechanism of action of hyperaldosteronism-linked mutations in cytosolic domains of GIRK4 (KCNJ5).3
353112272022KCNJ5 Somatic Mutation Is Associated With Higher Aortic Wall Thickness and Less Calcification in Patients With Aldosterone-Producing Adenoma.1
357792522022Histopathology and Genetic Causes of Primary Aldosteronism in Young Adults.3
360123062022Clinical Translationality of KCNJ5 Mutation in Aldosterone Producing Adenoma.4
331991572021Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance.1

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-(potassium-inwardly-rectifying-channel-subfamily-j-member-5)