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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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KCNJ5
potassium inwardly rectifying channel subfamily J member 5
Chromosome 11 Β· 11q24.3
NCBI Gene: 3762Ensembl: ENSG00000120457.13HGNC: HGNC:6266UniProt: A0A5J6E2W8
149PubMed Papers
22Diseases
2Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
inward rectifier potassium channel activityG-protein activated inward rectifier potassium channel activityprotein bindingvoltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarizationfamilial hyperaldosteronism type IIIatrial fibrillationaldosterone-producing adenomacardiac arrhythmia
✦AI Summary

KCNJ5 encodes GIRK4 (Kir3.4), a G-protein-activated inward rectifier potassium channel that mediates acetylcholine-induced potassium currents in cardiac tissue 1. The channel allows preferential potassium influx into cells, with voltage dependence regulated by extracellular potassium concentration and blockade of outward current by internal magnesium [UniProt]. Within the heart, KCNJ5 is essential for the KACh channel complex, which modulates parasympathetic nervous system effects on cardiac physiology and repolarization 2. Germline KCNJ5 mutations cause familial hyperaldosteronism type III and are implicated in long QT syndrome, though evidence for LQTS causation remains limited 3. KCNJ5 type 2 Andersen-Tawil syndrome mutations account for approximately 15% of cases and present with periodic paralysis, repolarization abnormalities, and characteristic dysmorphisms 1. Somatic KCNJ5 mutations are the most common driver of aldosterone-producing adenomas (>90% frequency), particularly in Asian populations 4. Patients with KCNJ5-mutated adenomas show younger age of onset, predominantly female presentation, higher aldosterone and lower potassium levels, and superior hypertension cure rates following adrenalectomy 56. These patients demonstrate increased left ventricular mass and diastolic dysfunction compared to non-mutated cases, with greater post-surgical improvement in cardiac function.

Sources cited
1
KCNJ5-GIRK4 mutations cause Andersen-Tawil syndrome type 2 (~15% of cases) with periodic paralysis, repolarization changes, and characteristic dysmorphisms
PMID: 32947483
2
KCNJ5 encodes GIRK4, which is necessary for functional KACh channel; human variants identified in familial hyperaldosteronism type III, long QT syndrome, atrial fibrillation, and sinus node dysfunction
PMID: 37446026
3
KCNJ5 has limited or disputed evidence for causing long QT syndrome and should not be used for clinical decision-making without additional evidence
PMID: 31983240
4
Somatic KCNJ5 mutations occur in >90% of aldosterone-producing adenomas; germline mutations cause familial hyperaldosteronism
PMID: 35139664
5
KCNJ5 mutation is associated with impaired cardiac function and significantly higher hypertension cure rates after surgery
PMID: 38657793
6
KCNJ5-mutated APA patients show higher left ventricular mass, impaired diastolic function, and better post-surgical improvements compared to non-mutated cases
PMID: 36950676
Disease Associationsβ“˜22
familial hyperaldosteronism type IIIOpen Targets
0.77Strong
atrial fibrillationOpen Targets
0.67Moderate
aldosterone-producing adenomaOpen Targets
0.51Moderate
cardiac arrhythmiaOpen Targets
0.49Moderate
Prolonged QT intervalOpen Targets
0.49Moderate
long QT syndrome 13Open Targets
0.49Moderate
atrial flutterOpen Targets
0.47Moderate
Romano-Ward syndromeOpen Targets
0.43Moderate
Abnormality of the cardiovascular systemOpen Targets
0.42Moderate
familial atrial fibrillationOpen Targets
0.39Weak
Andersen-Tawil syndromeOpen Targets
0.37Weak
Cardiodysrhythmic potassium-sensitive periodic paralysisOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
adrenocortical adenomaOpen Targets
0.34Weak
gastric ulcerOpen Targets
0.32Weak
hemorrhageOpen Targets
0.32Weak
Abnormal blistering of the skinOpen Targets
0.32Weak
heart diseaseOpen Targets
0.31Weak
cardioembolic strokeOpen Targets
0.31Weak
chronic obstructive pulmonary diseaseOpen Targets
0.31Weak
Hyperaldosteronism, familial, 3UniProt
Long QT syndrome 13UniProt
Pathogenic Variants8
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg)Pathogenic
not provided|Aldosterone-producing adrenal adenoma, somatic|Familial hyperaldosteronism type III|Cardiovascular phenotype|Long QT syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 151
NM_000890.5(KCNJ5):c.473C>G (p.Thr158Arg)Likely pathogenic
Long QT syndrome
β˜…β˜†β˜†β˜†2021β†’ Residue 158
NM_000890.5(KCNJ5):c.452G>A (p.Gly151Glu)Pathogenic
Familial hyperaldosteronism type III|Long QT syndrome
β˜…β˜†β˜†β˜†2019β†’ Residue 151
NM_000890.5(KCNJ5):c.736G>A (p.Glu246Lys)Pathogenic
Familial hyperaldosteronism type III
β˜†β˜†β˜†β˜†2014β†’ Residue 246
NM_000890.5(KCNJ5):c.472A>G (p.Thr158Ala)Pathogenic
Familial hyperaldosteronism type III|Aldosterone-producing adrenal adenoma, somatic|Andersen Tawil syndrome
β˜†β˜†β˜†β˜†2014β†’ Residue 158
NM_000890.5(KCNJ5):c.470T>G (p.Ile157Ser)Pathogenic
Familial hyperaldosteronism type III
β˜†β˜†β˜†β˜†2012β†’ Residue 157
NM_000890.5(KCNJ5):c.503T>G (p.Leu168Arg)Likely pathogenic
not provided
β˜†β˜†β˜†β˜†β†’ Residue 168
NM_000890.5(KCNJ5):c.451G>C (p.Gly151Arg)Likely pathogenic
not provided
β˜†β˜†β˜†β˜†β†’ Residue 151
View on ClinVar β†—
Drug Targets2
VERNAKALANTApproved
Sodium channel protein type V alpha subunit blocker
cardiac arrhythmia
VERNAKALANT HYDROCHLORIDEApproved
Sodium channel protein type V alpha subunit blocker
atrial fibrillation
Related Genes
AKAP9Protein interaction100%GNG2Protein interaction100%GNB2Protein interaction100%CAV3Protein interaction99%SCN5AProtein interaction97%PRKACAProtein interaction97%
Tissue Expression6 tissues
Heart
100%
Lung
13%
Brain
9%
Ovary
7%
Liver
3%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
KCNJ5AKAP9GNG2GNB2CAV3SCN5APRKACA
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P48544
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.91LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.56 [0.36–0.91]
RankingsWhere KCNJ5 stands among ~20K protein-coding genes
  • #3,041of 20,598
    Most Researched149 Β· top quartile
  • #578of 1,025
    FDA-Approved Drug Targets2
  • #3,042of 5,498
    Most Pathogenic Variants8
  • #8,320of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedKCNJ5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Andersen-Tawil Syndrome: A Comprehensive Review.
PMID: 32947483
Cardiol Rev Β· 2021
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.90
3
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
PMID: 31983240
Circulation Β· 2020
0.80
4
Primary Aldosteronism.
PMID: 31327272
Hypertension Β· 2019
0.70
5
Relevance of
PMID: 37446026
Int J Mol Sci Β· 2023
0.60