HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KCNJ4
potassium inwardly rectifying channel subfamily J member 4
Chromosome 22 · 22q13.1
NCBI Gene: 3761Ensembl: ENSG00000168135.5HGNC: HGNC:6265UniProt: P48050
47PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedIon ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingPDZ domain bindinginward rectifier potassium channel activitybasolateral plasma membranemathematical abilityneurodegenerative diseasestomach diseaseprostate cancer
✦AI Summary

KCNJ4 encodes Kir2.3, an inward rectifier potassium channel that preferentially allows potassium flow into cells, with voltage dependence regulated by extracellular potassium concentration and blockade of outward current mediated by internal magnesium [UniProt]. The channel localizes to the basolateral plasma membrane and exhibits PDZ domain binding capacity [GO Annotations]. In cardiac physiology, KCNJ4 expression is dynamically regulated during atrial myocardium cultivation, showing downregulation after 12 days in culture 1. Notably, KCNJ4 expression is reduced in male hearts at sudden cardiac death compared to nonarrhythmic deaths, suggesting sex-specific ion-channel dysregulation contributes to arrhythmic vulnerability 2. Beyond cardiology, KCNJ4 has emerged as clinically significant in multiple disease contexts. In lung adenocarcinoma, KCNJ4 overexpression correlates with cancer progression, shorter overall survival, and independent prognostic significance; KCNJ4 silencing suppresses proliferation, migration, and invasion via MEK/ERK pathway inhibition 3. KCNJ4 variants cause refractory epilepsy through both gain-of-function and loss-of-function mechanisms affecting potassium current amplitude 4. Additionally, KCNJ4 overexpression protects against mycotoxin-induced damage by regulating cell cycle and mitochondrial function 5. KCNJ4 responds to viral infection and dietary polyphenols, demonstrating broader cellular regulation 6, 7, and altered expression in neurodevelopmental disorders 8.

Sources cited
1
KCNJ4 (Kir2.3) mRNA expression is downregulated in human atrial myocardium after 12 days in culture
PMID: 35283779
2
KCNJ4 expression is upregulated in males at sudden cardiac death compared to females, representing sex-specific ion-channel dysregulation in arrhythmic vulnerability
PMID: 39545913
3
KCNJ4 is significantly upregulated in lung adenocarcinoma, predicts shorter overall survival, and KCNJ4 silencing impedes cancer cell proliferation, migration, and invasion via MEK/ERK pathway inhibition
PMID: 30512237
4
Four rare heterozygous KCNJ4 missense variants cause refractory epilepsy with both gain-of-function (Gly136Ser, Glu384Lys) and loss-of-function (Val206Met, Met293Lys) effects on inward rectifier potassium currents
PMID: 41830586
5
KCNJ4 overexpression protects against mycotoxin-induced damage by regulating cell cycle and sustaining mitochondrial morphology and function
PMID: 37152664
6
KCNJ4 gene expression is significantly regulated upon poliovirus infection of intestinal epithelial cells
PMID: 29078036
7
KCNJ4 DNA methylation patterns are altered in response to dietary stilbenoids in normal mammary epithelial cells
PMID: 29797699
8
Kcnj4 mRNA expression is lowered in cortex of mice with Tbl1xr1Y446C variant associated with Pierpont syndrome
PMID: 38885822
Disease Associationsⓘ20
mathematical abilityOpen Targets
0.31Weak
neurodegenerative diseaseOpen Targets
0.28Weak
stomach diseaseOpen Targets
0.28Weak
prostate cancerOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
monoclonal gammopathyOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.04Suggestive
central nervous system cancerOpen Targets
0.04Suggestive
prostate carcinomaOpen Targets
0.03Suggestive
astrocytomaOpen Targets
0.02Suggestive
oligodendrogliomaOpen Targets
0.02Suggestive
chondromalaciaOpen Targets
0.02Suggestive
response to antihypertensive drugOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
atrial fibrillationOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.01Suggestive
atypical teratoid rhabdoid tumorOpen Targets
0.01Suggestive
temporal lobe epilepsyOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KCNJ6Shared pathway100%KCNQ5Protein interaction97%KCNQ2Protein interaction97%KCNJ18Protein interaction96%KCNJ14Protein interaction95%KCNJ2Protein interaction95%
Tissue Expression6 tissues
Heart
100%
Brain
47%
Liver
9%
Bone Marrow
0%
Lung
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
KCNJ4KCNJ6KCNQ5KCNQ2KCNJ18KCNJ14KCNJ2
PROTEIN STRUCTURE
Preparing viewer…
PDB3GJ9 · 2.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.29Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.11 [0.05–0.29]
RankingsWhere KCNJ4 stands among ~20K protein-coding genes
  • #9,222of 20,598
    Most Researched47
  • #1,040of 17,882
    Most Constrained (LOEUF)0.29 · top 10%
Genes detectedKCNJ4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Long-Term Cultivation of Human Atrial Myocardium.
PMID: 35283779
Front Physiol · 2022
1.00
2
Transcriptomic Profiling of Human Myocardium at Sudden Death to Define Vulnerable Substrate for Lethal Arrhythmias.
PMID: 39545913
JACC Clin Electrophysiol · 2025
0.90
3
Overexpression of KCNJ4 correlates with cancer progression and unfavorable prognosis in lung adenocarcinoma.
PMID: 30512237
J Biochem Mol Toxicol · 2019
0.80
4
Selection of cellular genetic markers for the detection of infectious poliovirus.
PMID: 29078036
J Appl Microbiol · 2018
0.70
5
Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1
PMID: 38885822
Gene · 2024
0.60