KCNJ2 Gene

HGNC Family	Ion channels
Name	potassium channel, inwardly rectifying subfamily J, member 2
Description	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The KCNJ2 gene encodes the inward‐rectifier potassium channel Kir2.1, which plays a central role in stabilizing the resting membrane potential and shaping the final phase of repolarization in excitable cells. In the heart, proper Kir2.1 function is essential for maintaining rhythmic electrical activity, and mutations in KCNJ2 are associated with a wide spectrum of arrhythmia syndromes. Loss‐of‐function and dominant‐negative mutations have been identified in Andersen–Tawil syndrome, a disorder characterized by periodic paralysis, ventricular arrhythmias, and distinctive developmental anomalies."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": " In contrast, gain‐of‐function mutations—by increasing Kir2.1 current—have been linked to familial atrial fibrillation and a short QT phenotype, reflecting the critical influence of Kir2.1 activity on cardiac excitability and conduction."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Moreover, the regulation of KCNJ2 expression itself has been shown to impact arrhythmia susceptibility; for example, microRNA‑26 modulates Kir2.1 levels and thereby contributes to electrical remodeling in atrial fibrillation"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": ", while genome‐wide association analyses further implicate KCNJ2 in determining QT interval duration."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond its cardiac roles, Kir2.1 undergoes tightly regulated trafficking from the Golgi to the plasma membrane via a unique conformational signal that interacts with adaptor protein complexes, ensuring proper channel delivery."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": " In sensory cells, particularly those responsible for sour taste detection, the relatively modest Kir2.1 current imparts high acid sensitivity that amplifies the sour response."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": " Furthermore, aberrant expression of KCNJ2 in non‐cardiac tissues has been linked to pathological processes such as multidrug resistance in small cell lung cancer, where altered Kir2.1 levels modulate cell growth and survival."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings underscore the pivotal and diverse roles of KCNJ2/Kir2.1 in regulating cellular excitability across different tissues and in disease states. Its precise biophysical properties, regulation by microRNAs, and controlled trafficking are all critical for normal cellular function, while mutations in KCNJ2 can lead to complex clinical syndromes ranging from cardiac arrhythmias to developmental and oncologic pathologies."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_f", "ref": "9"}, {"type": "fg_f", "ref": "6"}, {"type": "fg_f", "ref": "8"}, {"type": "fg_f", "ref": "2"}, {"type": "fg_f", "ref": "7"}, {"type": "fg_fs", "start_ref": "10", "end_ref": "12"}, {"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Martin Tristani-Firouzi, Judy L Jensen, Matthew R Donaldson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI15183"}], "href": "https://doi.org/10.1172/JCI15183"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12163457"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12163457"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Gregor Andelfinger, Andrew R Tapper, Richard C Welch, et al. "}, {"type": "b", "children": [{"type": "t", "text": "KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/342360"}], "href": "https://doi.org/10.1086/342360"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12148092"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12148092"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Saïd Bendahhou, Matthew R Donaldson, Nikki M Plaster, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M310278200"}], "href": "https://doi.org/10.1074/jbc.M310278200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14522976"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14522976"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Tomohiko Ai, Yuichiro Fujiwara, Keiko Tsuji, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Circulation (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1161/01.cir.0000019906.35135.a3"}], "href": "https://doi.org/10.1161/01.cir.0000019906.35135.a3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12045162"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12045162"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Hiromi Kimura, Jun Zhou, Mihoko Kawamura, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Phenotype variability in patients carrying KCNJ2 mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Circ Cardiovasc Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1161/CIRCGENETICS.111.962316"}], "href": "https://doi.org/10.1161/CIRCGENETICS.111.962316"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22589293"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22589293"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Min Xia, Qingfeng Jin, Saïd Bendahhou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2005.05.054"}], "href": "https://doi.org/10.1016/j.bbrc.2005.05.054"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15922306"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15922306"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Makarand Deo, Yanfei Ruan, Sandeep V Pandit, et al. "}, {"type": "b", "children": [{"type": "t", "text": "KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1218154110"}], "href": "https://doi.org/10.1073/pnas.1218154110"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23440193"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23440193"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Xiaobin Luo, Zhenwei Pan, Hongli Shan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MicroRNA-26 governs profibrillatory inward-rectifier potassium current changes in atrial fibrillation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI62185"}], "href": "https://doi.org/10.1172/JCI62185"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23543060"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23543060"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Christopher Newton-Cheh, Mark Eijgelsheim, Kenneth M Rice, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Common variants at ten loci influence QT interval duration in the QTGEN Study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.364"}], "href": "https://doi.org/10.1038/ng.364"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19305408"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19305408"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Donghui Ma, Tarvinder Kaur Taneja, Brian M Hagen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Golgi export of the Kir2.1 channel is driven by a trafficking signal located within its tertiary structure."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2011.06.007"}], "href": "https://doi.org/10.1016/j.cell.2011.06.007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21703452"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21703452"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Wenlei Ye, Rui B Chang, Jeremy D Bushman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The K+ channel KIR2.1 functions in tandem with proton influx to mediate sour taste transduction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1514282112"}], "href": "https://doi.org/10.1073/pnas.1514282112"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26627720"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26627720"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Huanxin Liu, Jie Huang, Juan Peng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Upregulation of the inwardly rectifying potassium channel Kir2.1 (KCNJ2) modulates multidrug resistance of small-cell lung cancer under the regulation of miR-7 and the Ras/MAPK pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cancer (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12943-015-0298-0"}], "href": "https://doi.org/10.1186/s12943-015-0298-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25880778"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25880778"}]}]}]}
Synonyms	SQT3, HHBIRK1, HHIRK1, IRK1, KIR2.1, ATFB9, LQT7
Proteins	KCNJ2_HUMAN
NCBI Gene ID	3759
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

KCNJ2 has 10,000 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 124 datasets.

Click the + buttons to view associations for KCNJ2 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

KCNJ2 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by KCNJ2 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of KCNJ2 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of KCNJ2 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of KCNJ2 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of KCNJ2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of KCNJ2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of KCNJ2 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of KCNJ2 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of KCNJ2 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of KCNJ2 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of KCNJ2 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of KCNJ2 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of KCNJ2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with KCNJ2 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of KCNJ2 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of KCNJ2 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 KCNJ2 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 KCNJ2 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with KCNJ2 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of KCNJ2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing KCNJ2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing KCNJ2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with KCNJ2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with KCNJ2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of KCNJ2 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with KCNJ2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with KCNJ2 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with KCNJ2 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by KCNJ2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving KCNJ2 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving KCNJ2 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with KCNJ2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with KCNJ2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with KCNJ2 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 KCNJ2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with KCNJ2 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 KCNJ2 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 KCNJ2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of KCNJ2 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing KCNJ2 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.