Inward rectifier potassium channel 2

Name	Inward rectifier potassium channel 2
Synonyms	Cardiac inward rectifier potassium channel hIRK1 Inward rectifier K(+) channel Kir2.1 IRK-1 IRK1 Potassium channel, inwardly rectifying subfamily J member 2
Gene Name	KCNJ2
Organism	Human
Amino acid sequence	>lcl\|BSEQ0010179\|Inward rectifier potassium channel 2 MGSVRTNRYSIVSSEEDGMKLATMAVANGFGNGKSKVHTRQQCRSRFVKKDGHCNVQFIN VGEKGQRYLADIFTTCVDIRWRWMLVIFCLAFVLSWLFFGCVFWLIALLHGDLDASKEGK ACVSEVNSFTAAFLFSIETQTTIGYGFRCVTDECPIAVFMVVFQSIVGCIIDAFIIGAVM AKMAKPKKRNETLVFSHNAVIAMRDGKLCLMWRVGNLRKSHLVEAHVRAQLLKSRITSEG EYIPLDQIDINVGFDSGIDRIFLVSPITIVHEIDEDSPLYDLSKQDIDNADFEIVVILEG MVEATAMTTQCRSSYLANEILWGHRYEPVLFEEKHYYKVDYSRFHKTYEVPNTPLCSARD LAEKKYILSNANSFCYENEVALTSKEEDDSENGVPESTSTDTPPDIDLHNQASVPLEPRP LRRESEI
Number of residues	427
Molecular Weight	48287.82
Theoretical pI	5.47
GO Classification	Functions phosphatidylinositol-4,5-bisphosphate binding inward rectifier potassium channel activity voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization Processes magnesium ion transport cardiac muscle cell action potential involved in contraction membrane repolarization during action potential membrane depolarization during cardiac muscle cell action potential membrane repolarization during cardiac muscle cell action potential cellular response to mechanical stimulus regulation of heart rate by cardiac conduction positive regulation of potassium ion transmembrane transport protein homotetramerization regulation of membrane repolarization regulation of skeletal muscle contraction via regulation of action potential potassium ion transmembrane transport potassium ion transport relaxation of skeletal muscle potassium ion import regulation of resting membrane potential relaxation of cardiac muscle cellular potassium ion homeostasis synaptic transmission Components Golgi apparatus integral component of plasma membrane neuronal cell body intrinsic component of membrane dendritic spine rough endoplasmic reticulum smooth endoplasmic reticulum plasma membrane voltage-gated potassium channel complex intercalated disc T-tubule
General Function	Voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
Specific Function	Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium or cesium.
Transmembrane Regions	82-106 157-178
GenBank Protein ID	833706
UniProtKB ID	P63252
UniProtKB Entry Name	KCNJ2_HUMAN
Cellular Location	Membrane
Gene sequence	>lcl\|BSEQ0010180\|Inward rectifier potassium channel 2 (KCNJ2) ATGGGCAGTGTGCGAACCAACCGCTACAGCATCGTCTCTTCAGAAGAAGACGGTATGAAG TTGGCCACCATGGCAGTTGCAAATGGCTTTGGGAACGGGAAGAGTAAAGTCCACACCCGA CAACAGTGCAGGAGCCGCTTTGTGAAGAAAGATGGCCACTGTAATGTTCAGTTCATCAAT GTGGGTGAGAAGGGGCAACGGTACCTCGCAGACATCTTCACCACGTGTGTGGACATTCGC TGGCGGTGGATGCTGGTTATCTTCTGCCTGGCTTTCGTCCTGTCATGGCTGTTTTTTGGC TGTGTGTTTTGGTTGATAGCTCTGCTCCATGGGGACCTGGATGCATCCAAAGAGGGCAAA GCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTGCCTTCCTCTTCTCCATTGAGACCCAG ACAACCATAGGCTATGGTTTCAGATGTGTCACGGATGAATGCCCAATTGCTGTTTTCATG GTGGTGTTCCAGTCAATCGTGGGCTGCATCATCGATGCTTTCATCATTGGCGCAGTCATG GCCAAGATGGCAAAGCCAAAGAAGAGAAACGAGACTCTTGTCTTCAGTCACAATGCCGTG ATTGCCATGAGAGACGGCAAGCTGTGTTTGATGTGGCGAGTGGGCAATCTTCGGAAAAGC CACTTGGTGGAAGCTCATGTTCGAGCACAGCTCCTCAAATCCAGAATTACTTCTGAAGGG GAGTATATCCCTCTGGATCAAATAGACATCAATGTTGGGTTTGACAGTGGAATCGATCGT ATATTTCTGGTGTCCCCAATCACTATAGTCCATGAAATAGATGAAGACAGTCCTTTATAT GATTTGAGTAAACAGGACATTGACAACGCAGACTTTGAAATCGTGGTCATACTGGAAGGC ATGGTGGAAGCCACTGCCATGACGACACAGTGCCGTAGCTCTTATCTAGCAAATGAAATC CTGTGGGGCCACCGCTATGAGCCTGTGCTCTTTGAAGAGAAGCACTACTACAAAGTGGAC TATTCCAGGTTCCACAAAACTTACGAAGTCCCCAACACTCCCCTTTGTAGTGCCAGAGAC TTAGCAGAAAAGAAATATATCCTCTCAAATGCAAATTCATTTTGCTATGAAAATGAAGTT GCCCTCACAAGCAAAGAGGAAGACGACAGTGAAAATGGAGTTCCAGAAAGCACTAGTACG GACACGCCCCCTGACATAGACCTTCACAACCAGGCAAGTGTACCTCTAGAGCCCAGGCCC TTACGGCGAGAGTCGGAGATATGA
GenBank Gene ID	U24055
GeneCard ID	None
GenAtlas ID	KCNJ2
HGNC ID	HGNC:6263
Chromosome Location	17
Locus	17q23.1-q24.2
References	Raab-Graham KF, Radeke CM, Vandenberg CA: Molecular cloning and expression of a human heart inward rectifier potassium channel. Neuroreport. 1994 Dec 20;5(18):2501-5.[7696590 ] Wood LS, Tsai TD, Lee KS, Vogeli G: Cloning and functional expression of a human gene, hIRK1, encoding the heart inward rectifier K+-channel. Gene. 1995 Oct 3;163(2):313-7.[7590287 ] Tare M, Prestwich SA, Gordienko DV, Parveen S, Carver JE, Robinson C, Bolton TB: Inwardly rectifying whole cell potassium current in human blood eosinophils. J Physiol. 1998 Jan 15;506 ( Pt 2):303-18.[9490857 ] Derst C, Karschin C, Wischmeyer E, Hirsch JR, Preisig-Muller R, Rajan S, Engel H, Grzeschik K, Daut J, Karschin A: Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits. FEBS Lett. 2001 Mar 2;491(3):305-11.[11240146 ] Ashen MD, O'Rourke B, Kluge KA, Johns DC, Tomaselli GF: Inward rectifier K+ channel from human heart and brain: cloning and stable expression in a human cell line. Am J Physiol. 1995 Jan;268(1 Pt 2):H506-11.[7840300 ] Preisig-Muller R, Schlichthorl G, Goerge T, Heinen S, Bruggemann A, Rajan S, Derst C, Veh RW, Daut J: Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome. Proc Natl Acad Sci U S A. 2002 May 28;99(11):7774-9.[12032359 ] Gomez R, Caballero R, Barana A, Amoros I, Calvo E, Lopez JA, Klein H, Vaquero M, Osuna L, Atienza F, Almendral J, Pinto A, Tamargo J, Delpon E: Nitric oxide increases cardiac IK1 by nitrosylation of cysteine 76 of Kir2.1 channels. Circ Res. 2009 Aug 14;105(4):383-92. doi: 10.1161/CIRCRESAHA.109.197558. Epub 2009 Jul 16.[19608980 ] Takamitsu E, Fukunaga K, Iio Y, Moriya K, Utsumi T: Cell-free identification of novel N-myristoylated proteins from complementary DNA resources using bioorthogonal myristic acid analogues. Anal Biochem. 2014 Nov 1;464:83-93. doi: 10.1016/j.ab.2014.07.006. Epub 2014 Jul 18.[25043870 ] Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptacek LJ: Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell. 2001 May 18;105(4):511-9.[11371347 ] Andelfinger G, Tapper AR, Welch RC, Vanoye CG, George AL Jr, Benson DW: KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet. 2002 Sep;71(3):663-8. Epub 2002 Jul 29.[12148092 ] Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R: Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002 Aug;110(3):381-8.[12163457 ] Xia M, Jin Q, Bendahhou S, He Y, Larroque MM, Chen Y, Zhou Q, Yang Y, Liu Y, Liu B, Zhu Q, Zhou Y, Lin J, Liang B, Li L, Dong X, Pan Z, Wang R, Wan H, Qiu W, Xu W, Eurlings P, Barhanin J, Chen Y: A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. Biochem Biophys Res Commun. 2005 Jul 15;332(4):1012-9.[15922306 ] Priori SG, Pandit SV, Rivolta I, Berenfeld O, Ronchetti E, Dhamoon A, Napolitano C, Anumonwo J, di Barletta MR, Gudapakkam S, Bosi G, Stramba-Badiale M, Jalife J: A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ Res. 2005 Apr 15;96(7):800-7. Epub 2005 Mar 10.[15761194 ] Lu CW, Lin JH, Rajawat YS, Jerng H, Rami TG, Sanchez X, DeFreitas G, Carabello B, DeMayo F, Kearney DL, Miller G, Li H, Pfaffinger PJ, Bowles NE, Khoury DS, Towbin JA: Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome. J Med Genet. 2006 Aug;43(8):653-9. Epub 2006 Mar 29.[16571646 ] Bendahhou S, Fournier E, Gallet S, Menard D, Larroque MM, Barhanin J: Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred. Hum Mol Genet. 2007 Apr 15;16(8):900-6. Epub 2007 Feb 26.[17324964 ]

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