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.
KCNJ18
potassium inwardly rectifying channel subfamily J member 18
Chromosome 17 · 17p11.2
NCBI Gene: 100134444Ensembl: ENSG00000260458.3HGNC: HGNC:39080UniProt: B7U540
16PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
inward rectifier potassium channel activityprotein bindingplasma membraneendoplasmic reticulumneurodegenerative diseasethyrotoxic periodic paralysisneuropathy, hereditary motor and sensory, type 6AAlzheimer disease
✦AI Summary

KCNJ18 encodes Kir2.6, an inwardly rectifying potassium channel that plays a critical role in maintaining muscle membrane excitability and resting potential 1. The channel allows greater potassium influx than efflux, with its voltage dependence regulated by extracellular potassium concentration and inward rectification primarily due to internal magnesium blockade 1. KCNJ18 demonstrates high sequence homology with related channels KCNJ2 and KCNJ12, making accurate genetic analysis challenging 2. The gene exhibits two distinct haplotypes (RRAI and QHEV) with functional differences, and haplotype 1 (AAAG) shows significantly higher frequency in East Asian populations (80.8%) compared to Caucasians (48.4%) 3. Mutations in KCNJ18 cause hypokalemic periodic paralysis, including both thyrotoxic periodic paralysis (TPP) and familial forms without hyperthyroidism 13. The G169R mutation demonstrates severe functional defects, reducing inward and outward current densities by approximately 48-65% 1. The Asian haplotype confers 19.6-fold increased susceptibility to TPP, explaining the higher prevalence in East Asian populations 3. Additionally, KCNJ18 variants have been identified in esophageal squamous cell carcinoma and non-small cell lung cancer, suggesting potential roles in oncogenesis 45.

Sources cited
1
KCNJ18 encodes Kir2.6 channel with inward rectifying properties and G169R mutation reduces current densities
PMID: 27178871
2
Asian haplotype 1 shows 19.6-fold increased TPP susceptibility and higher frequency in East Asian populations
PMID: 31361309
3
KCNJ18 has high sequence homology with related channels and exhibits two distinct functional haplotypes
PMID: 27008341
4
KCNJ18 variants identified in familial esophageal squamous cell carcinoma
PMID: 29405996
5
KCNJ18 mutations found in non-small cell lung cancer patients
PMID: 37694353
Disease Associationsⓘ21
neurodegenerative diseaseOpen Targets
0.30Weak
thyrotoxic periodic paralysisOpen Targets
0.27Weak
neuropathy, hereditary motor and sensory, type 6AOpen Targets
0.19Weak
Alzheimer diseaseOpen Targets
0.17Weak
Blackfan-Diamond anemiaOpen Targets
0.05Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.05Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.05Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
0.04Suggestive
delta-beta-thalassemiaOpen Targets
0.04Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.04Suggestive
erythrocytosis, familial, 3Open Targets
0.04Suggestive
erythrocytosis, familial, 6Open Targets
0.04Suggestive
PyropoikilocytosisOpen Targets
0.04Suggestive
pyropoikilocytosis, hereditaryOpen Targets
0.04Suggestive
erythrocytosis, familial, 4Open Targets
0.03Suggestive
periodic paralysisOpen Targets
0.02Suggestive
popliteal pterygium syndromeOpen Targets
0.02Suggestive
Thyrotoxic periodic paralysis 2UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KCNJ6Shared pathway100%KCNJ4Protein interaction96%KCNJ14Protein interaction96%KCNJ2Protein interaction93%KCNQ1Protein interaction93%KCNQ2Protein interaction93%
Tissue Expression6 tissues
Brain
0%
Bone Marrow
0%
Heart
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
KCNJ18KCNJ6KCNJ4KCNJ14KCNJ2KCNQ1KCNQ2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt B7U540
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.77LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.26 [0.89–1.77]
RankingsWhere KCNJ18 stands among ~20K protein-coding genes
  • #15,291of 20,598
    Most Researched16
  • #16,412of 17,882
    Most Constrained (LOEUF)1.77
Genes detectedKCNJ18
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Thyrotoxic Hypokalemic Periodic Paralysis: Pathophysiological Mechanisms.
PMID: 41376301
Endocrinol Metab (Seoul) · 2025
1.00
2
Contribution of Asian Haplotype of KCNJ18 to Susceptibility to and Ethnic Differences in Thyrotoxic Periodic Paralysis.
PMID: 31361309
J Clin Endocrinol Metab · 2019
0.90
3
Whole genome and exome sequencing realignment supports the assignment of KCNJ12, KCNJ17, and KCNJ18 paralogous genes in thyrotoxic periodic paralysis locus: functional characterization of two polymorphic Kir2.6 isoforms.
PMID: 27008341
Mol Genet Genomics · 2016
0.80
4
A novel Kir2.6 mutation associated with hypokalemic periodic paralysis.
PMID: 27178871
Clin Neurophysiol · 2016
0.70
5
Familial hypokalemic periodic paralysis: a case induced by concurrent hyperthyroidism.
PMID: 39333966
BMC Nephrol · 2024
0.60