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Potassium inwardly-rectifying channel, subfamily J, member 2

PDB rendering based on 1u4f.
Available structures
1u4f, 2gix
Identifiers
Symbols KCNJ2; HHBIRK1; HHIRK1; IRK1; KIR2.1; LQT7; SQT3
External IDs OMIM600681 MGI104744 HomoloGene20249 IUPHAR: Kir2.1 GeneCards: KCNJ2 Gene
RNA expression pattern
PBB GE KCNJ2 206765 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 3759 16518
Ensembl ENSG00000123700 ENSMUSG00000041695
UniProt P63252 Q543W5
RefSeq (mRNA) NM_000891 NM_008425
RefSeq (protein) NP_000882 NP_032451
Location (UCSC) Chr 17:
65.68 - 65.69 Mb
Chr 11:
110.88 - 110.89 Mb
PubMed search [1] [2]

The Kir2.1 inward-rectifier potassium ion channel is encoded by the KCNJ2 gene.[1][2][3]

Contents

Clinical significance

A defect in this gene is associated with Andersen-Tawil syndrome.[4]

A mutation in the KCNJ2 gene has also been shown to cause short QT syndrome.[5]

Interactions

Kir2.1 has been shown to interact with DLG4,[6] TRAK2[7] and Interleukin 16.[8]

References

  1. ^ Raab-Graham KF, Radeke CM, Vandenberg CA (1994). "Molecular cloning and expression of a human heart inward rectifier potassium channel". Neuroreport 5 (18): 2501–5. doi:10.1097/00001756-199412000-00024. PMID 7696590.  
  2. ^ Derst C, Karschin C, Wischmeyer E, Hirsch JR, Preisig-Müller R, Rajan S, Engel H, Grzeschik K, Daut J, Karschin A (2001). "Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits". FEBS Lett. 491 (3): 305–11. doi:10.1016/S0014-5793(01)02202-5. PMID 11240146.  
  3. ^ Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, Lazdunski M, Nichols CG, Seino S, Vandenberg CA (2005). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". Pharmacol. Rev. 57 (4): 509–26. doi:10.1124/pr.57.4.11. PMID 16382105.  
  4. ^ Donaldson MR, Yoon G, Fu YH, Ptacek LJ (2004). "Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity". Ann. Med. 36 Suppl 1: 92–7. doi:10.1080/17431380410032490. PMID 15176430.  
  5. ^ 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 (April 2005). "A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene". Circ. Res. 96 (7): 800–7. doi:10.1161/01.RES.0000162101.76263.8c. PMID 15761194.  
  6. ^ Nehring, R B; Wischmeyer E, Döring F, Veh R W, Sheng M, Karschin A (Jan. 2000). "Neuronal inwardly rectifying K(+) channels differentially couple to PDZ proteins of the PSD-95/SAP90 family". J. Neurosci. (UNITED STATES) 20 (1): 156–62. PMID 10627592.  
  7. ^ Grishin, Anatoly; Li Hui, Levitan Edwin S, Zaks-Makhina Elena (Oct. 2006). "Identification of gamma-aminobutyric acid receptor-interacting factor 1 (TRAK2) as a trafficking factor for the K+ channel Kir2.1". J. Biol. Chem. (United States) 281 (40): 30104–11. doi:10.1074/jbc.M602439200. ISSN 0021-9258. PMID 16895905.  
  8. ^ Kurschner, C; Yuzaki M (Sep. 1999). "Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein". J. Neurosci. (UNITED STATES) 19 (18): 7770–80. PMID 10479680.  

Further reading

  • Kubo Y, Adelman JP, Clapham DE, et al. (2006). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels.". Pharmacol. Rev. 57 (4): 509–26. doi:10.1124/pr.57.4.11. PMID 16382105.  
  • Wood LS, Tsai TD, Lee KS, Vogeli G (1995). "Cloning and functional expression of a human gene, hIRK1, encoding the heart inward rectifier K+-channel.". Gene 163 (2): 313–7. doi:10.1016/0378-1119(95)00244-Z. PMID 7590287.  
  • Kubo Y, Baldwin TJ, Jan YN, Jan LY (1993). "Primary structure and functional expression of a mouse inward rectifier potassium channel.". Nature 362 (6416): 127–33. doi:10.1038/362127a0. PMID 7680768.  
  • Raab-Graham KF, Radeke CM, Vandenberg CA (1995). "Molecular cloning and expression of a human heart inward rectifier potassium channel.". Neuroreport 5 (18): 2501–5. PMID 7696590.  
  • Ashen MD, O'Rourke B, Kluge KA, et al. (1995). "Inward rectifier K+ channel from human heart and brain: cloning and stable expression in a human cell line.". Am. J. Physiol. 268 (1 Pt 2): H506–11. PMID 7840300.  
  • Tang W, Qin CL, Yang XC (1996). "Cloning, localization, and functional expression of a human brain inward rectifier potassium channel (hIRK1).". Recept. Channels 3 (3): 175–83. PMID 8821791.  
  • Tare M, Prestwich SA, Gordienko DV, et al. (1998). "Inwardly rectifying whole cell potassium current in human blood eosinophils.". J. Physiol. (Lond.) 506 ( Pt 2): 303–18. doi:10.1111/j.1469-7793.1998.303bw.x. PMID 9490857.  
  • Rae JL, Shepard AR (1998). "Inwardly rectifying potassium channels in lens epithelium are from the IRK1 (Kir 2.1) family.". Exp. Eye Res. 66 (3): 347–59. doi:10.1006/exer.1997.0432. PMID 9533862.  
  • Kurschner C, Yuzaki M (1999). "Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein.". J. Neurosci. 19 (18): 7770–80. PMID 10479680.  
  • Tucker SJ, Ashcroft FM (1999). "Mapping of the physical interaction between the intracellular domains of an inwardly rectifying potassium channel, Kir6.2.". J. Biol. Chem. 274 (47): 33393–7. doi:10.1074/jbc.274.47.33393. PMID 10559219.  
  • Nehring RB, Wischmeyer E, Döring F, et al. (2000). "Neuronal inwardly rectifying K(+) channels differentially couple to PDZ proteins of the PSD-95/SAP90 family.". J. Neurosci. 20 (1): 156–62. PMID 10627592.  
  • Leonoudakis D, Mailliard W, Wingerd K, et al. (2001). "Inward rectifier potassium channel Kir2.2 is associated with synapse-associated protein SAP97.". J. Cell. Sci. 114 (Pt 5): 987–98. PMID 11181181.  
  • Derst C, Karschin C, Wischmeyer E, et al. (2001). "Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits.". FEBS Lett. 491 (3): 305–11. doi:10.1016/S0014-5793(01)02202-5. PMID 11240146.  
  • Stockklausner C, Ludwig J, Ruppersberg JP, Klöcker N (2001). "A sequence motif responsible for ER export and surface expression of Kir2.0 inward rectifier K(+) channels.". FEBS Lett. 493 (2-3): 129–33. doi:10.1016/S0014-5793(01)02286-4. PMID 11287009.  
  • Dart C, Leyland ML (2001). "Targeting of an A kinase-anchoring protein, AKAP79, to an inwardly rectifying potassium channel, Kir2.1.". J. Biol. Chem. 276 (23): 20499–505. doi:10.1074/jbc.M101425200. PMID 11287423.  
  • Plaster NM, Tawil R, Tristani-Firouzi M, et al. (2001). "Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.". Cell 105 (4): 511–9. doi:10.1016/S0092-8674(01)00342-7. PMID 11371347.  
  • Jeong JS, Lee HJ, Jung JS, et al. (2001). "Characterization of inwardly rectifying K(+) conductance across the basolateral membrane of rat tracheal epithelia.". Biochem. Biophys. Res. Commun. 288 (4): 914–20. doi:10.1006/bbrc.2001.5831. PMID 11688996.  
  • Giovannardi S, Forlani G, Balestrini M, et al. (2002). "Modulation of the inward rectifier potassium channel IRK1 by the Ras signaling pathway.". J. Biol. Chem. 277 (14): 12158–63. doi:10.1074/jbc.M110466200. PMID 11809752.  
  • Preisig-Müller R, Schlichthörl G, Goerge T, et al. (2002). "Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome.". Proc. Natl. Acad. Sci. U.S.A. 99 (11): 7774–9. doi:10.1073/pnas.102609499. PMID 12032359.  
  • Ai T, Fujiwara Y, Tsuji K, et al. (2002). "Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia.". Circulation 105 (22): 2592–4. doi:10.1161/01.CIR.0000019906.35135.A3. PMID 12045162.  

External links

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