| HGNC Family | Ion channels |
| Name | potassium channel, inwardly rectifying subfamily J, member 18 |
| Description | This gene encodes a member of the inwardly rectifying potassium channel family. Transcription of this locus is regulated by thyroid hormone, and the encoded protein plays a role in resting membrane potential maintenance. Mutations in this locus have been associated with thyrotoxic hypokalemic periodic paralysis. [provided by RefSeq, Jan 2013] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n KCNJ18 encodes the skeletal muscle–specific inwardly rectifying potassium channel Kir2.6, which plays a pivotal role in setting and stabilizing the muscle resting membrane potential. Its expression is regulated by thyroid hormone, enabling dynamic adaptation of skeletal muscle excitability in response to hormonal changes. Functional studies have shown that Kir2.6 normally contributes to outward potassium currents that prevent paradoxical membrane depolarization during conditions of hypokalemia. Mutations in KCNJ18—identified in patients with thyrotoxic and sporadic periodic paralysis—alter channel properties by reducing whole‐cell and single‐channel currents, impairing cell surface trafficking, and exerting dominant negative inhibition on both homomeric Kir2.6 and heteromeric partners such as Kir2.1. As a consequence, these defects compromise potassium efflux, predisposing affected muscle fibers to depolarization and inactivation of voltage‐gated sodium channels, which leads to episodes of paralysis. Moreover, studies demonstrate that Kir2.6 can coassemble with other Kir2.x subunits in vitro and in vivo, emphasizing the importance of proper subunit interaction and membrane targeting for maintaining muscle excitability. Collectively, these findings highlight the central role of KCNJ18 in muscle membrane stabilization and support its involvement in the pathogenesis of periodic paralysis disorders, particularly in the context of thyrotoxicosis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "9"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Devon P Ryan, Magnus R Dias da Silva, Tuck Wah Soong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2009.12.024"}], "href": "https://doi.org/10.1016/j.cell.2009.12.024"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20074522"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20074522"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Chih-Jen Cheng, Shih-Hua Lin, Yi-Fen Lo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M111.249656"}], "href": "https://doi.org/10.1074/jbc.M111.249656"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21665951"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21665951"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Lior Dassau, Lisa R Conti, Carolyn M Radeke, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M110.170597"}], "href": "https://doi.org/10.1074/jbc.M110.170597"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21209095"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21209095"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Xiaobing Li, Sheng Yao, Yining Xiang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Neurol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12883-015-0290-8"}], "href": "https://doi.org/10.1186/s12883-015-0290-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25885757"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25885757"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Marius Kuhn, Karin Jurkat-Rott, Frank Lehmann-Horn "}, {"type": "b", "children": [{"type": "t", "text": "Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol Neurosurg Psychiatry (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jnnp-2014-309293"}], "href": "https://doi.org/10.1136/jnnp-2014-309293"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25882930"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25882930"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Rolf Matias Paninka, Estevão Carlos-Lima, Susan C Lindsey, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Down-regulation of Kir2.6 channel by c-termini mutation D252N and its association with the susceptibility to Thyrotoxic Periodic Paralysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuroscience (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neuroscience.2017.01.019"}], "href": "https://doi.org/10.1016/j.neuroscience.2017.01.019"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28131627"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28131627"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Shinsuke Noso, Naru Babaya, Yoshihisa Hiromine, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Contribution of Asian Haplotype of KCNJ18 to Susceptibility to and Ethnic Differences in Thyrotoxic Periodic Paralysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Endocrinol Metab (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1210/jc.2019-00672"}], "href": "https://doi.org/10.1210/jc.2019-00672"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31361309"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31361309"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Jinfan Zheng, Zonglai Liang, Ying Hou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel Kir2.6 mutation associated with hypokalemic periodic paralysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Neurophysiol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.clinph.2016.03.008"}], "href": "https://doi.org/10.1016/j.clinph.2016.03.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27178871"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27178871"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Shih-Hua Lin, Chou-Long Huang "}, {"type": "b", "children": [{"type": "t", "text": "Mechanism of thyrotoxic periodic paralysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Am Soc Nephrol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1681/ASN.2012010046"}], "href": "https://doi.org/10.1681/ASN.2012010046"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22460532"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22460532"}]}]}]}
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| Synonyms | KIR2.6, TTPP2 |
| Proteins | KCJ18_HUMAN |
| NCBI Gene ID | 100134444 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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KCNJ18 has 962 functional associations with biological entities spanning 7 categories (molecular profile, disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 39 datasets.
Click the + buttons to view associations for KCNJ18 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of KCNJ18 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of KCNJ18 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of KCNJ18 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of KCNJ18 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of KCNJ18 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations | phenotypes associated with KCNJ18 gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with KCNJ18 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing KCNJ18 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with KCNJ18 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| CTD Gene-Disease Associations | diseases associated with KCNJ18 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with KCNJ18 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with KCNJ18 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with KCNJ18 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at KCNJ18 gene from the ENCODE Histone Modification Site Profiles dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of KCNJ18 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of KCNJ18 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with KCNJ18 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving KCNJ18 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving KCNJ18 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by KCNJ18 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by KCNJ18 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of KCNJ18 gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of KCNJ18 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with KCNJ18 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of KCNJ18 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of KCNJ18 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| KEGG Pathways 2026 | pathways involving KCNJ18 protein from the KEGG Pathways 2026 dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of KCNJ18 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles | cell lines with KCNJ18 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
| KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of KCNJ18 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| OMIM Gene-Disease Associations | phenotypes associated with KCNJ18 gene from the curated OMIM Gene-Disease Associations dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of KCNJ18 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at KCNJ18 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of KCNJ18 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of KCNJ18 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of KCNJ18 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of KCNJ18 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of KCNJ18 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with KCNJ18 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
