Gene Symbol: KCNJ2
Description: potassium voltage-gated channel subfamily J member 2
Alias: ATFB9, HHBIRK1, HHIRK1, IRK1, KIR2.1, LQT7, SQT3, inward rectifier potassium channel 2, IRK-1, cardiac inward rectifier potassium channel, hIRK1, inward rectifier K+ channel KIR2.1, potassium channel, inwardly rectifying subfamily J, member 2, potassium inwardly-rectifying channel, subfamily J, member 2
Species: human
Products:     KCNJ2

Top Publications

  1. Jansen J, De Boer T, Wolswinkel R, van Veen T, Vos M, van Rijen H, et al. Lysosome mediated Kir2.1 breakdown directly influences inward rectifier current density. Biochem Biophys Res Commun. 2008;367:687-92 pubmed publisher
    ..We conclude that the lysosomal degradation pathway contributes to Kir2.1 mediated inward rectifier current regulation. ..
  2. Preisig Müller R, Schlichthörl G, Goerge T, Heinen S, Brüggemann A, Rajan S, et al. Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome. Proc Natl Acad Sci U S A. 2002;99:7774-9 pubmed
    ..Our results suggest that differential tetramerization of the mutant allele of Kir2.1 with wild-type Kir2.1, Kir2.2, and Kir2.3 channels represents the molecular basis of the extraordinary pleiotropy of Andersen's syndrome...
  3. Andelfinger G, Tapper A, Welch R, Vanoye C, George A, Benson D. KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet. 2002;71:663-8 pubmed
    Evaluation of candidate loci culminated in the identification of a heterozygous missense mutation (R67W) in KCNJ2, the gene encoding the inward-rectifying potassium current, Kir2...
  4. Priori S, Pandit S, Rivolta I, Berenfeld O, Ronchetti E, Dhamoon A, et al. A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ Res. 2005;96:800-7 pubmed
    ..1 (I(K1)) channel. The affected members of a single family had a G514A substitution in the KCNJ2 gene that resulted in a change from aspartic acid to asparagine at position 172 (D172N)...
  5. Shin H, Lu Z. Mechanism of the voltage sensitivity of IRK1 inward-rectifier K+ channel block by the polyamine spermine. J Gen Physiol. 2005;125:413-26 pubmed
    b>IRK1 (Kir2.1) inward-rectifier K+ channels exhibit exceedingly steep rectification, which reflects strong voltage dependence of channel block by intracellular cations such as the polyamine spermine...
  6. Panama B, Lopatin A. Differential polyamine sensitivity in inwardly rectifying Kir2 potassium channels. J Physiol. 2006;571:287-302 pubmed
    ..In conclusion, the data are consistent with the universal mechanism of rectification in Kir2 channels, but also point to significant, and physiologically important, quantitative differences between Kir2 isoforms. ..
  7. Yoon G, Oberoi S, Tristani Firouzi M, Etheridge S, Quitania L, Kramer J, et al. Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype. Am J Med Genet A. 2006;140:312-21 pubmed
    ..Approximately 70% of patients have mutations in KCNJ2, resulting in dysfunction of the inward-rectifying potassium channel Kir2.1...
  8. D Avanzo N, Cheng W, Doyle D, Nichols C. Direct and specific activation of human inward rectifier K+ channels by membrane phosphatidylinositol 4,5-bisphosphate. J Biol Chem. 2010;285:37129-32 pubmed publisher
    ..This raises the interesting hypothesis that PIP(2) activation of eukaryotic channels reflects an evolutionary adaptation of the channel to the appearance of PIP(2) in the eukaryotic cell membrane. ..
  9. Cheng W, D Avanzo N, Doyle D, Nichols C. Dual-mode phospholipid regulation of human inward rectifying potassium channels. Biophys J. 2011;100:620-628 pubmed publisher
    ..In conclusion, we utilized purified proteins in defined lipid membranes to quantitatively determine the phospholipid requirements for human Kir channel activity. ..

More Information

Publications110 found, 100 shown here

  1. Marrus S, Cuculich P, Wang W, Nerbonne J. Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome. Channels (Austin). 2011;5:500-9 pubmed publisher
    ..Approximately 60% of patients exhibit loss-of-function mutations in KCNJ2, which encodes the inwardly rectifying K(+) channel pore forming subunit Kir2.1...
  2. Kubo Y, Baldwin T, Jan Y, Jan L. Primary structure and functional expression of a mouse inward rectifier potassium channel. Nature. 1993;362:127-33 pubmed
    A complementary DNA encoding an inward rectifier K+ channel (IRK1) was isolated from a mouse macrophage cell line by expression cloning...
  3. Xia M, Jin Q, Bendahhou S, He Y, Larroque M, Chen Y, et al. A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. Biochem Biophys Res Commun. 2005;332:1012-9 pubmed
    The inward rectifier K(+) channel Kir2.1 mediates the potassium I(K1) current in the heart. It is encoded by KCNJ2 gene that has been linked to Andersen's syndrome. Recently, strong evidences showed that Kir2...
  4. Pillas D, Hoggart C, Evans D, O Reilly P, Sipilä K, Lähdesmäki R, et al. Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. PLoS Genet. 2010;6:e1000856 pubmed publisher
    ..The loci included several genes with links to tooth and other organ development (KCNJ2, EDA, HOXB2, RAD51L1, IGF2BP1, HMGA2, MSRB3)...
  5. Ma D, Taneja T, Hagen B, Kim B, Ortega B, Lederer W, et al. Golgi export of the Kir2.1 channel is driven by a trafficking signal located within its tertiary structure. Cell. 2011;145:1102-15 pubmed publisher
    ..1 reveals a quality control step that couples protein conformation to Golgi export and provides molecular insight into how mutations in Kir2.1 arrest the channels at the Golgi. ..
  6. Cheung C, Lau K, Ho A, Lee K, Tiu S, Lau E, et al. Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3. Nat Genet. 2012;44:1026-9 pubmed publisher
    ..3 near KCNJ2 (rs312691: odds ratio (OR) = 3.3; P(meta-analysis) = 1.8 × 10(-14))...
  7. Deo M, Ruan Y, Pandit S, Shah K, Berenfeld O, Blaufox A, et al. KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia. Proc Natl Acad Sci U S A. 2013;110:4291-6 pubmed publisher
    We describe a mutation (E299V) in KCNJ2, the gene that encodes the strong inward rectifier K(+) channel protein (Kir2.1), in an 11-y-old boy...
  8. Plaster N, Tawil R, Tristani Firouzi M, Canún S, Bendahhou S, Tsunoda A, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell. 2001;105:511-9 pubmed
    ..We have mapped an Andersen's locus to chromosome 17q23 near the inward rectifying potassium channel gene KCNJ2. A missense mutation in KCNJ2 (encoding D71V) was identified in the linked family...
  9. Benko S, Fantes J, Amiel J, Kleinjan D, Thomas S, Ramsay J, et al. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet. 2009;41:359-64 pubmed publisher
    ..Some cases of PRS may thus result from developmental misexpression of SOX9 due to disruption of very-long-range cis-regulatory elements...
  10. Alesutan I, Munoz C, Sopjani M, Dërmaku Sopjani M, Michael D, Fraser S, et al. Inhibition of Kir2.1 (KCNJ2) by the AMP-activated protein kinase. Biochem Biophys Res Commun. 2011;408:505-10 pubmed publisher
    ..Mutations of KCNJ2 encoding Kir2...
  11. Jongjaroenprasert W, Phusantisampan T, Mahasirimongkol S, Mushiroda T, Hirankarn N, Snabboon T, et al. A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis. J Hum Genet. 2012;57:301-4 pubmed publisher
    ..surrounding the landmark SNP, we found a significant association of rs623011; located at 75?kb downstream of KCNJ2 on chromosome 17q, reached the GWAS significance after Bonferroni's adjustment (P=3...
  12. Stockklausner C, Ludwig J, Ruppersberg J, Klocker N. A sequence motif responsible for ER export and surface expression of Kir2.0 inward rectifier K(+) channels. FEBS Lett. 2001;493:129-33 pubmed
    ..This motif is found to be both necessary and sufficient for efficient export from the ER that eventually leads to efficient surface expression of Kir2.1 channels. ..
  13. Hibino H, Inanobe A, Furutani K, Murakami S, Findlay I, Kurachi Y. Inwardly rectifying potassium channels: their structure, function, and physiological roles. Physiol Rev. 2010;90:291-366 pubmed publisher
    ..The crystal structure of different Kir channels is opening the way to understanding the structure-function relationships of this simple but diverse ion channel family. ..
  14. Kharade S, Kurata H, Bender A, Blobaum A, Figueroa E, Duran A, et al. Discovery, Characterization, and Effects on Renal Fluid and Electrolyte Excretion of the Kir4.1 Potassium Channel Pore Blocker, VU0134992. Mol Pharmacol. 2018;94:926-937 pubmed publisher
    ..Thus, VU0134992 represents the first in vivo active tool compound for probing the therapeutic potential of Kir4.1 as a novel diuretic target for the treatment of hypertension. ..
  15. Lively S, Lam D, Wong R, Schlichter L. Comparing Effects of Transforming Growth Factor β1 on Microglia From Rat and Mouse: Transcriptional Profiles and Potassium Channels. Front Cell Neurosci. 2018;12:115 pubmed publisher
    ..Overall, the numerous species differences should be considered when characterizing neuroinflammation and microglial activation in vitro and in vivo, and when targeting potassium channels. ..
  16. Buck T, Jordan R, Lyons Weiler J, Adelman J, Needham P, Kleyman T, et al. Expression of three topologically distinct membrane proteins elicits unique stress response pathways in the yeast Saccharomyces cerevisiae. Physiol Genomics. 2015;47:198-214 pubmed publisher
    ..These data indicate that aberrant proteins in the ER elicit profound yet unique cellular responses. ..
  17. Nilius B, Droogmans G. Ion channels and their functional role in vascular endothelium. Physiol Rev. 2001;81:1415-59 pubmed
  18. Chong E, Chang S, Hsiao Y, Singhal R, Liu S, Leha T, et al. Resveratrol, a red wine antioxidant, reduces atrial fibrillation susceptibility in the failing heart by PI3K/AKT/eNOS signaling pathway activation. Heart Rhythm. 2015;12:1046-56 pubmed publisher
    ..Resveratrol decreases left atrial fibrosis and regulates variation in ion channels to reduce AF through the PI3K/AKT/eNOS signaling pathway. ..
  19. Yang Z, Huang P, Liu X, Huang S, Deng L, Jin Z, et al. Effect of adenosine and adenosine receptor antagonist on Müller cell potassium channel in Rat chronic ocular hypertension models. Sci Rep. 2015;5:11294 pubmed publisher
    ..The fact that PKA inhibitor H-89 blocked these SCH442416 effects suggested that the PKA signaling pathway was involved in the observed ocular responses following the intravitreal SCH442416 injection. ..
  20. Kim J, Moon S, Shin Y, Jeon J, Park K, Lee K, et al. Intracellular spermine blocks TRPC4 channel via electrostatic interaction with C-terminal negative amino acids. Pflugers Arch. 2016;468:551-61 pubmed publisher
  21. Tester D, Ackerman J, Giudicessi J, Ackerman N, Cerrone M, Delmar M, et al. Plakophilin-2 Truncation Variants in Patients Clinically Diagnosed With Catecholaminergic Polymorphic Ventricular Tachycardia and Decedents With Exercise-Associated Autopsy Negative Sudden Unexplained Death in the Young. JACC Clin Electrophysiol. 2019;5:120-127 pubmed publisher
    ..6 ± 12.8 years) clinically diagnosed with CPVT but who were RYR2-, CASQ2-, KCNJ2-, and TRDN-negative, and 19 decedents with SUDY during exercise (13 males; average age at death: 14 ± 3 years)...
  22. Liu Y, Sun L, Pan Z, Bai Y, Wang N, Zhao J, et al. Overexpression of M? muscarinic receptor is a novel strategy for preventing sudden cardiac death in transgenic mice. Mol Med. 2011;17:1179-87 pubmed publisher
    ..This effect may be mediated by increasing the inward rectifying K? current by downregulation of arrhythmogenic miR-1 expression, which might partially be a novel strategy for antiarrhythmias, leading to sudden cardiac death. ..
  23. Xiao Y, Cai X, Atkinson A, Logantha S, Boyett M, Dobrzynski H. Expression of connexin 43, ion channels and Ca2+-handling proteins in rat pulmonary vein cardiomyocytes. Exp Ther Med. 2016;12:3233-3241 pubmed
    ..This indicates that ectopic beats originating in the myocardial sleeves of the PVs occur only under pathological conditions. ..
  24. Siddiqui T, Lively S, Schlichter L. Complex molecular and functional outcomes of single versus sequential cytokine stimulation of rat microglia. J Neuroinflammation. 2016;13:66 pubmed publisher
    ..Because these changes might affect microglia-mediated CNS inflammation, they should be considered in future experimental, pre-clinical studies. ..
  25. Chamoun E, Carroll N, Duizer L, Qi W, Feng Z, Darlington G, et al. The Relationship between Single Nucleotide Polymorphisms in Taste Receptor Genes, Taste Function and Dietary Intake in Preschool-Aged Children and Adults in the Guelph Family Health Study. Nutrients. 2018;10: pubmed publisher
    ..multiple hypothesis testing, the rs713598 in the TAS2R38 bitter taste receptor gene and rs236514 in the KCNJ2 sour taste-associated gene remained significantly associated with PTC ST and sour PR in parents, respectively...
  26. Son E, Ma J, Ankamreddy H, Shin J, Choi J, Wu D, et al. Conserved role of Sonic Hedgehog in tonotopic organization of the avian basilar papilla and mammalian cochlea. Proc Natl Acad Sci U S A. 2015;112:3746-51 pubmed publisher
    ..such as the total number of stereocilia per hair cell and gene expression of an inward rectifier potassium channel, IRK1, which is a bona fide feature of apical hair cells in the basilar papilla...
  27. Spencer N, Schilling T, Miralles F, Eder C. Mechanisms Underlying Interferon-γ-Induced Priming of Microglial Reactive Oxygen Species Production. PLoS ONE. 2016;11:e0162497 pubmed publisher
    ..These data suggest that microglial Kir2.1 channels may represent novel therapeutic targets to inhibit excessive ROS production by primed microglia in brain pathology. ..
  28. Wang D, Liu C, Li Z, Wang Y, Wang W, Wu X, et al. Regulation of Histone Acetylation on Expression Profiles of Potassium Channels During Cardiomyocyte Differentiation From Mouse Embryonic Stem Cells. J Cell Biochem. 2017;118:4460-4467 pubmed publisher
    ..H4 hyperacetylation induced by Class I HDACs inhibitors promoted the expression profiles of potassium channels (Kcnj2, Kcnj3, Kcnj5, Kcnj11, and Kcnh2) in the process...
  29. Lopdell T, Tiplady K, Struchalin M, Johnson T, Keehan M, Sherlock R, et al. DNA and RNA-sequence based GWAS highlights membrane-transport genes as key modulators of milk lactose content. BMC Genomics. 2017;18:968 pubmed publisher
    ..in the endoplasmic reticulum, with functions related to ion channel activity mediated through the LRRC8C, P2RX4, KCNJ2 and ANKH genes...
  30. Fang Y, Schram G, Romanenko V, Shi C, Conti L, Vandenberg C, et al. Functional expression of Kir2.x in human aortic endothelial cells: the dominant role of Kir2.2. Am J Physiol Cell Physiol. 2005;289:C1134-44 pubmed
    ..3 or dnKir2.4. These studies suggest that Kir2.2 and Kir2.1 are primary determinants of endogenous K(+) conductance in HAECs under resting conditions and that Kir2.2 provides the dominant conductance in these cells. ..
  31. Fujiwara Y, Kubo Y. Functional roles of charged amino acid residues on the wall of the cytoplasmic pore of Kir2.1. J Gen Physiol. 2006;127:401-19 pubmed
  32. Choi B, Kim J, Suh B, Yu J, Sunwoo I, Kim S, et al. Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families. J Hum Genet. 2007;52:280-3 pubmed
    Mutations of the KCNJ2 gene are a major underlying cause of Andersen-Tawil syndrome (ATS), a rare autosomal dominant inherited disorder that is characterized by periodic paralysis, cardiac arrhythmias, and developmental dysmorphic ..
  33. Bendahhou S, Fournier E, Gallet S, Ménard D, Larroque M, Barhanin J. Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred. Hum Mol Genet. 2007;16:900-6 pubmed
    ..and bone features are the hallmark of Andersen's syndrome (AS), a rare disorder caused by mutations in the KCNJ2 gene that encodes for the inward rectifier K(+)-channel Kir2.1...
  34. Hinard V, Belin D, Konig S, Bader C, Bernheim L. Initiation of human myoblast differentiation via dephosphorylation of Kir2.1 K+ channels at tyrosine 242. Development. 2008;135:859-67 pubmed publisher
    ..We propose that Kir2.1 channels are already present at the membrane of proliferating, undifferentiated human myoblasts but in a silent state, and that Kir2.1 tyrosine 242 dephosphorylation triggers differentiation. ..
  35. Kapa S, Tester D, Salisbury B, Harris Kerr C, Pungliya M, Alders M, et al. Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009;120:1752-60 pubmed publisher
    ..These findings will have implications for other genetic disorders involving mutational analysis. ..
  36. Bates E. A potential molecular target for morphological defects of fetal alcohol syndrome: Kir2.1. Curr Opin Genet Dev. 2013;23:324-9 pubmed publisher
    ..This review compiles clinical, genetic, biochemical, electrophysiological, and molecular evidence that identifies Kir2.1 as a molecular target for FASD development and possibly therapeutic treatment. ..
  37. Ambrosini E, Sicca F, Brignone M, D Adamo M, Napolitano C, Servettini I, et al. Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype. Hum Mol Genet. 2014;23:4875-86 pubmed publisher
    ..1 (KCNJ2) channels...
  38. Wu Y, Baum M, Huang C, Rodan A. Two inwardly rectifying potassium channels, Irk1 and Irk2, play redundant roles in Drosophila renal tubule function. Am J Physiol Regul Integr Comp Physiol. 2015;309:R747-56 pubmed publisher
    ..In Drosophila melanogaster, this includes transcripts of the Irk1, Irk2, and Irk3 genes. The role of each of these gene products in renal tubule function is unknown...
  39. Wong A, Hristova E, Ahlskog N, Tasse L, Ngsee J, Chudalayandi P, et al. Aberrant Subcellular Dynamics of Sigma-1 Receptor Mutants Underlying Neuromuscular Diseases. Mol Pharmacol. 2016;90:238-53 pubmed publisher
    ..1, compared with the wild-type ?-1R. Thus, these ?-1R mutants have different functional properties that could contribute to their disease phenotypes. ..
  40. Maltese P, Orlova N, Krasikova E, Emelyanchik E, Cheremisina A, Kuscaeva A, et al. Gene-Targeted Analysis of Clinically Diagnosed Long QT Russian Families. Int Heart J. 2017;58:81-87 pubmed publisher
    ..We identified two new mutations (KCNQ1 gene) and 6 known mutations (AKAP9, ANK2, KCNE1 and KCNJ2 genes) in 4 out of 9 probands, some of which have already been described in association with LQTS...
  41. Lu C, Lin J, Rajawat Y, Jerng H, Rami T, Sanchez X, et al. Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome. J Med Genet. 2006;43:653-9 pubmed
    ..by periodic paralysis, cardiac dysarrhythmias, and dysmorphic features, and is caused by mutations in the gene KCNJ2, which encodes the inward rectifier potassium channel, Kir2.1...
  42. Fernlund E, Lundin C, Hertervig E, Kongstad O, Alders M, Platonov P. Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome. Ann Noninvasive Electrocardiol. 2013;18:471-8 pubmed publisher
    Andersen-Tawil syndrome (ATS) is a rare inherited multisystem disorder associated with mutations in KCNJ2 and low prevalence of life-threatening ventricular arrhythmias...
  43. Kamikawa A, Sugimoto S, Ichii O, Kondoh D. Decrease in an Inwardly Rectifying Potassium Conductance in Mouse Mammary Secretory Cells after Forced Weaning. PLoS ONE. 2015;10:e0141131 pubmed publisher
    ..1 mRNA and protein expression. These alterations during the post-weaning period may be involved in the cessation of ion secretion and/or preservation in the milk. ..
  44. Lü S, An H, Zhang H, Long M. Structural Basis for Differences in Dynamics Induced by Leu Versus Ile Residues in the CD Loop of Kir Channels. Mol Neurobiol. 2016;53:5948-5961 pubmed publisher
  45. Wu S, Chen Y, Tsai S, Wu S, Shih Y, Jiang Shieh Y, et al. Estrogen ameliorates microglial activation by inhibiting the Kir2.1 inward-rectifier K(+) channel. Sci Rep. 2016;6:22864 pubmed publisher
    ..1 activity of BV2 cells by reducing the probability that the channel would be open. We conclude that age- and inflammation-associated microglial activation is attenuated by ovarian estrogen, because it inhibits Kir2.1. ..
  46. Yamamura H, Suzuki Y, Yamamura H, Asai K, Imaizumi Y. Hypoxic stress up-regulates Kir2.1 expression and facilitates cell proliferation in brain capillary endothelial cells. Biochem Biophys Res Commun. 2016;476:386-392 pubmed publisher
    ..1 expression and presumably enhances Ca(2+) entry, resulting in the facilitation of BCEC proliferation. These findings suggest potential roles of Kir2.1 expression in functional changes of BCECs in BBB following ischemia. ..
  47. Leong I, Skinner J, Shelling A, Love D. Expression of a Mutant kcnj2 Gene Transcript in Zebrafish. ISRN Mol Biol. 2013;2013:324839 pubmed publisher
    ..Mutations in the human KCNJ2 gene, which encodes for the subunit of the potassium inwardly-rectifying channel (IK1), have been associated with ..
  48. Retzke T, Thoma M, Hansson B, Knaden M. Potencies of effector genes in silencing odor-guided behavior in Drosophila melanogaster. J Exp Biol. 2017;220:1812-1819 pubmed publisher
    ..melanogaster genetic toolbox, and demonstrate that some odor-guided behaviors are more resistant to genetic perturbations than others. ..
  49. Yang B, Li C, Sun J, Wang X, Liu X, Yang C, et al. Inhibition of potassium currents is involved in antiarrhythmic effect of moderate ethanol on atrial fibrillation. Toxicol Appl Pharmacol. 2017;322:89-96 pubmed publisher
    ..5 and IhERG, which contributed to preventing the development and duration of AF. ..
  50. Zeng Y, Tao L, Ma J, Han L, Lv Y, Hui P, et al. DUSP1 and KCNJ2 mRNA upregulation can serve as a biomarker of mechanical asphyxia-induced death in cardiac tissue. Int J Legal Med. 2018;132:655-665 pubmed publisher
    ..the expression of dual-specificity phosphatase 1 (DUSP1) and potassium voltage-gated channel subfamily J member 2 (KCNJ2) was upregulated in human cardiac tissues from the mechanical asphyxia group compared with control tissues, ..
  51. Gradel A, Salomonsson M, Sørensen C, Holstein Rathlou N, Jensen L. Long-term diet-induced hypertension in rats is associated with reduced expression and function of small artery SKCa, IKCa, and Kir2.1 channels. Clin Sci (Lond). 2018;132:461-474 pubmed publisher
    ..1 channels are associated with elevated blood pressure in rats fed a long-term High Fat/Fruc. Rats fed a 28-week High Fat/Fruc provide a relevant model of diet-induced hypertension. ..
  52. Doi T, Makiyama T, Morimoto T, Haruna Y, Tsuji K, Ohno S, et al. A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome. Circ Cardiovasc Genet. 2011;4:253-60 pubmed publisher
    Mutations in KCNJ2, a gene encoding the inward rectifier K(+) channel Kir2...
  53. Vila A, Whitaker C, O BRIEN J. Membrane-associated guanylate kinase scaffolds organize a horizontal cell synaptic complex restricted to invaginating contacts with photoreceptors. J Comp Neurol. 2017;525:850-867 pubmed publisher
    ..J. Comp. Neurol. 525:850-867, 2017. © 2016 Wiley Periodicals, Inc. ..
  54. Bai Y, Su Z, Sun H, Zhao W, Chen X, Hang P, et al. Aloe-Emodin Relieves High-Fat Diet Induced QT Prolongation via MiR-1 Inhibition and IK1 Up-Regulation in Rats. Cell Physiol Biochem. 2017;43:1961-1973 pubmed publisher
    ..AE prevents HFD-induced QT prolongation by repressing miR-1 and upregulating its target Kir2.1. These findings suggest a novel pharmacological role of AE in HFD-induced cardiac electrical remodeling. ..
  55. Kang J, Kawaguchi D, Wang L. Genetically Encoding Unnatural Amino Acids in Neurons In Vitro and in the Embryonic Mouse Brain for Optical Control of Neuronal Proteins. Methods Mol Biol. 2018;1728:263-277 pubmed publisher
    ..Uaas with other properties can be similarly incorporated into neuronal proteins in neurons for various applications. ..
  56. Fancher I, Ahn S, Adamos C, Osborn C, Oh M, Fang Y, et al. Hypercholesterolemia-Induced Loss of Flow-Induced Vasodilation and Lesion Formation in Apolipoprotein E-Deficient Mice Critically Depend on Inwardly Rectifying K+ Channels. J Am Heart Assoc. 2018;7: pubmed publisher
    ..1 function via the loss of flow-induced NO production, whereas the stages downstream of flow-induced Kir2.1 activation appear to be mostly intact. Kir2.1 channels also have an atheroprotective role. ..
  57. Obeyesekere M, Klein G, Conacher S, Krahn A. KCNJ2 variant of unknown significance reclassified as long QT syndrome causing ventricular fibrillation. Can J Cardiol. 2011;27:870.e11-3 pubmed publisher
    b>KCNJ2 is the only gene implicated in Andersen-Tawil syndrome. Sudden cardiac arrest is rare in Andersen-Tawil syndrome. However, sudden cardiac arrest is often the index presentation in other forms of long QT syndrome...
  58. Ma J, Yang F, Mahida S, Zhao L, Chen X, Zhang M, et al. TBX5 mutations contribute to early-onset atrial fibrillation in Chinese and Caucasians. Cardiovasc Res. 2016;109:442-50 pubmed publisher
    ..The genetic factors underlying AF have not been fully elucidated. We screened six candidate genes (CAV1, KCNJ2, KCNQ1, NKX2...
  59. Kang J, Kawaguchi D, Wang L. Optical Control of a Neuronal Protein Using a Genetically Encoded Unnatural Amino Acid in Neurons. J Vis Exp. 2016;:e53818 pubmed publisher
    ..The current protocol presents an accessible procedure for intricate Uaa incorporation in neurons in vitro and in vivo to achieve photo control of neuronal protein activity on the molecular level. ..
  60. Hof T, Liu H, Sallé L, Schott J, Ducreux C, Millat G, et al. TRPM4 non-selective cation channel variants in long QT syndrome. BMC Med Genet. 2017;18:31 pubmed publisher
    ..TRPM4 enlarges the subgroup of LQT genes (KCNJ2 in Andersen syndrome and CACNA1C in Timothy syndrome) known to increase the QT interval through a more complex ..
  61. Serie D, Crook J, Necela B, Axenfeld B, Dockter T, Colon Otero G, et al. Breast Cancer Clinical Trial of Chemotherapy and Trastuzumab: Potential Tool to Identify Cardiac Modifying Variants of Dilated Cardiomyopathy. J Cardiovasc Dev Dis. 2017;4: pubmed publisher
    ..at the nominal 5% level for OBSCN as well as TCAP, DSC2, VCL, NEXN, KCNJ2 and DMD (p = 0.044-0.008)...
  62. Tang W, Qin C, Yang X. Cloning, localization, and functional expression of a human brain inward rectifier potassium channel (hIRK1). Receptors Channels. 1995;3:175-83 pubmed
    We have cloned a novel human brain inward rectifier K+ channel (hIRK1), which shares approximately 60% amino acid identity with another human inward rectifier (hIRK2) but 98% identity with the mouse IRK1...
  63. Derst C, Karschin C, Wischmeyer E, Hirsch J, Preisig Müller R, Rajan S, et al. Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits. FEBS Lett. 2001;491:305-11 pubmed
    ..1-24.2, and is separated by only 34 kb from the hKir2.1 gene (KCNJ2). In the brain, Kir5...
  64. Karkanis T, Li S, Pickering J, Sims S. Plasticity of KIR channels in human smooth muscle cells from internal thoracic artery. Am J Physiol Heart Circ Physiol. 2003;284:H2325-34 pubmed
    ..Ba(2+) inhibited [(3)H]thymidine incorporation, indicating a possible role for K(IR) channels in the regulation of proliferation. The phenotype-dependent plasticity of K(IR) channels may have relevance to vascular remodeling. ..
  65. Limberg M, Zumhagen S, Netter M, Coffey A, Grace A, Rogers J, et al. Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype. Basic Res Cardiol. 2013;108:353 pubmed publisher
    ..After genotyping a large set of patients with congenital long-QT syndrome, we identified two novel, heterozygous KCNJ2 mutations (p.N318S, p.W322C) located in the C-terminus of the Kir2.1 subunit...
  66. Kenmoku H, Ishikawa H, Ote M, Kuraishi T, Kurata S. A subset of neurons controls the permeability of the peritrophic matrix and midgut structure in Drosophila adults. J Exp Biol. 2016;219:2331-9 pubmed publisher
  67. Zhou H, Tate S, Palmer L. Primary structure and functional properties of an epithelial K channel. Am J Physiol. 1994;266:C809-24 pubmed
    ..oocytes indicate its close relationship to ROMK1 and more distant relationship to the inward rectifier K channel (IRK1) (Kubo, Y, T.J. Baldwin, Y. N. Jan, and L. Y. Jan. Nature Lond. 362: 127-133, 1993)...
  68. Sampson L, Leyland M, Dart C. Direct interaction between the actin-binding protein filamin-A and the inwardly rectifying potassium channel, Kir2.1. J Biol Chem. 2003;278:41988-97 pubmed
    ..We conclude that filamin-A is potentially an important regulator of Kir2.1 surface expression and location within vascular smooth muscle. ..
  69. Liao S, Tse H, Chan Y, Mei Chu Yip P, Zhang Y, Liu Y, et al. Overexpression of Kir2.1 channel in embryonic stem cell-derived cardiomyocytes attenuates posttransplantation proarrhythmic risk in myocardial infarction. Heart Rhythm. 2013;10:273-82 pubmed publisher
    ..25%) compared with the DOX(+) group (3 of 16, 18.75%; P = .031). Forced expression of Kir2.1 in ESC-CMs improves their electrical phenotypes and lowers the risk of inducible and spontaneous VT after post-MI transplantation. ..
  70. Wang X, Chow C, Yao X, Ko G, Cockram C, Kwok H, et al. The predisposition to thyrotoxic periodic paralysis (TPP) is due to a genetic variant in the inward-rectifying potassium channel, KCNJ2. Clin Endocrinol (Oxf). 2014;80:770-1 pubmed publisher
  71. Huang X, Lee S, Lu H, Sanders K, Koh S. Molecular and functional characterization of inwardly rectifying K+ currents in murine proximal colon. J Physiol. 2018;596:379-391 pubmed publisher
    ..Transcripts of Kcnj2 (Kir2.1), Kcnj4 (Kir2.3), Kcnj14 (Kir2.4), Kcnj5 (Kir3.4), Kcnj8 (Kir 6.1) and Kcnj11 (Kir6...
  72. Giovannardi S, Forlani G, Balestrini M, Bossi E, Tonini R, Sturani E, et al. Modulation of the inward rectifier potassium channel IRK1 by the Ras signaling pathway. J Biol Chem. 2002;277:12158-63 pubmed
    ..and the mitogen-activated protein kinase (MAPK) pathway in the modulation of the inward rectifier potassium channel IRK1. We show that although expression of IRK1 in HEK 293 cells leads to the appearance of a potassium current with ..
  73. Ai T, Fujiwara Y, Tsuji K, Otani H, Nakano S, Kubo Y, et al. Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia. Circulation. 2002;105:2592-4 pubmed
    Mutations in the KCNJ2 gene, which codes cardiac and skeletal inward rectifying K+ channels (Kir2.1), produce Andersen's syndrome, which is characterized by periodic paralysis, cardiac arrhythmia, and dysmorphic features.
  74. Lopes C, Zhang H, Rohacs T, Jin T, Yang J, Logothetis D. Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies. Neuron. 2002;34:933-44 pubmed
    ..We find basic residues that interact with PIP(2), two of which have been associated with Andersen's and Bartter's syndromes. We show that several naturally occurring mutants decrease channel-PIP(2) interactions, leading to disease. ..
  75. Matamoros M, Pérez Hernández M, Guerrero Serna G, Amorós I, Barana A, Núñez M, et al. Nav1.5 N-terminal domain binding to α1-syntrophin increases membrane density of human Kir2.1, Kir2.2 and Nav1.5 channels. Cardiovasc Res. 2016;110:279-90 pubmed publisher
    ..5 channels in Nav1.5-Kir2.x-reciprocal interactions and suggest that the molecular mechanisms controlling atrial and ventricular cellular excitability may be different. ..
  76. Park S, Kim T, Sim S, Oh H, Song E, Kim M, et al. Association of KCNJ2 Genetic Variants with Susceptibility to Thyrotoxic Periodic Paralysis in Patients with Graves' Disease. Exp Clin Endocrinol Diabetes. 2017;125:75-78 pubmed publisher
    ..The KCNJ2 gene encodes the inward-rectifying potassium channel...
  77. Whittaker D, Ni H, El Harchi A, Hancox J, Zhang H. Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria. PLoS Comput Biol. 2017;13:e1005593 pubmed publisher
    Gain-of-function mutations in KCNJ2-encoded Kir2.1 channels underlie variant 3 (SQT3) of the short QT syndrome, which is associated with atrial fibrillation (AF)...
  78. Li M, Kanda Y, Ashihara T, Sasano T, Nakai Y, Kodama M, et al. Overexpression of KCNJ2 in induced pluripotent stem cell-derived cardiomyocytes for the assessment of QT-prolonging drugs. J Pharmacol Sci. 2017;134:75-85 pubmed publisher
    ..expression on the pharmacological properties, we tested if transduction of hiPSC-derived cardiomyocytes with KCNJ2, which encodes the IK1 channel, alters pharmacological response to cardiac repolarization processes...
  79. Utrilla R, Nieto Marín P, Alfayate S, Tinaquero D, Matamoros M, Pérez Hernández M, et al. Kir2.1-Nav1.5 Channel Complexes Are Differently Regulated than Kir2.1 and Nav1.5 Channels Alone. Front Physiol. 2017;8:903 pubmed publisher
    ..These results suggested that Kir2.1 and Nav1.5 channels closely interact with each other leading to the formation of a pool of complexed channels whose biology is similar to that of the Nav1.5 channels. ..
  80. Arnestad M, Crotti L, Rognum T, Insolia R, Pedrazzini M, Ferrandi C, et al. Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007;115:361-7 pubmed
    ..Molecular screening of 7 genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CAV3) associated with LQTS was performed with denaturing high-performance liquid chromatography and nucleotide ..
  81. Chilton L, Loutzenhiser K, Morales E, Breaks J, Kargacin G, Loutzenhiser R. Inward rectifier K(+) currents and Kir2.1 expression in renal afferent and efferent arterioles. J Am Soc Nephrol. 2008;19:69-76 pubmed publisher
    ..The expression of Kir in the efferent arteriole, a resistance vessel whose tone is not affected by membrane potential, is intriguing and may suggest a novel function of this channel in the renal microcirculation. ..
  82. Goldoni D, Yarham J, McGahon M, O Connor A, Guduric Fuchs J, Edgar K, et al. A novel dual-fluorescence strategy for functionally validating microRNA targets in 3' untranslated regions: regulation of the inward rectifier potassium channel K(ir)2.1 by miR-212. Biochem J. 2012;448:103-13 pubmed publisher
    ..We developed a functional assay for identifying microRNA targets and applied it to the K(+) channel K(ir)2.1 [KCNJ2 (potassium inwardly-rectifying channel, subfamily J, member 2)] which is dysregulated in cardiac and vascular ..
  83. Rosenhouse Dantsker A, Noskov S, Han H, Adney S, Tang Q, Rodríguez Menchaca A, et al. Distant cytosolic residues mediate a two-way molecular switch that controls the modulation of inwardly rectifying potassium (Kir) channels by cholesterol and phosphatidylinositol 4,5-bisphosphate (PI(4,5)P(2)). J Biol Chem. 2012;287:40266-78 pubmed publisher
    ..Thus, although cholesterol and phosphatidylinositol 4,5-bisphosphate do not interact with the same region of Kir2.1, these different modulators induce a common gating pathway of the channel. ..
  84. Boulis N, Handy C, Krudy C, Donnelly E, Federici T, Franz C, et al. Regulated neuronal neuromodulation via spinal cord expression of the gene for the inwardly rectifying potassium channel 2.1 (Kir2.1). Neurosurgery. 2013;72:653-61; discussion 661 pubmed publisher
    ..Delivery of the gene for Kir2.1 inhibits neurons by resisting depolarization to the action potential threshold. Regulated neuronal expression of Kir2.1 may provide an elegant means for neuromodulation in a selected neuronal population. ..
  85. Lee S, Ren F, Zangerl Plessl E, Heyman S, Stary Weinzinger A, Yuan P, et al. Structural basis of control of inward rectifier Kir2 channel gating by bulk anionic phospholipids. J Gen Physiol. 2016;148:227-37 pubmed publisher
  86. Burrone J, O Byrne M, Murthy V. Multiple forms of synaptic plasticity triggered by selective suppression of activity in individual neurons. Nature. 2002;420:414-8 pubmed
    ..Our results highlight the differences between global and selective suppression of activity, as well as those between early and late manipulation of activity. ..
  87. Yan D, Ishihara K. Two Kir2.1 channel populations with different sensitivities to Mg(2+) and polyamine block: a model for the cardiac strong inward rectifier K(+) channel. J Physiol. 2005;563:725-44 pubmed
    ..The present results suggest that the outward I(K1) flows through two populations of channels with different sensitivities to cytoplasmic blockers. ..
  88. Grishin A, Li H, Levitan E, Zaks Makhina E. Identification of gamma-aminobutyric acid receptor-interacting factor 1 (TRAK2) as a trafficking factor for the K+ channel Kir2.1. J Biol Chem. 2006;281:30104-11 pubmed
    ..Yeast two-hybrid assays showed that an N-terminal region of GRIF-1 interacts with a C-terminal region of Kir2.1. These results indicate that GRIF-1 binds to Kir2.1 and facilitates trafficking of this channel to the cell surface. ..
  89. Jakobsen L, Ullmann R, Christensen S, Jensen K, Mølsted K, Henriksen K, et al. Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. J Med Genet. 2007;44:381-6 pubmed
  90. D Avanzo N, Hyrc K, Enkvetchakul D, Covey D, Nichols C. Enantioselective protein-sterol interactions mediate regulation of both prokaryotic and eukaryotic inward rectifier K+ channels by cholesterol. PLoS ONE. 2011;6:e19393 pubmed publisher
    ..These data indicate that cholesterol regulates Kir channels through direct protein-sterol interactions likely taking advantage of an evolutionarily conserved binding pocket. ..
  91. Munoz C, Almilaji A, Setiawan I, Foller M, Lang F. Up-regulation of the inwardly rectifying K? channel Kir2.1 (KCNJ2) by protein kinase B (PKB/Akt) and PIKfyve. J Membr Biol. 2013;246:189-97 pubmed publisher
    ..Loss of function mutations of KCNJ2 encoding Kir2...