Kir2.1

A defect in this gene is associated with Andersen-Tawil syndrome.{{cite journal | vauthors = Donaldson MR, Yoon G, Fu YH, Ptacek LJ | title = Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity | journal = Annals of Medicine | volume = 36 | issue = Suppl 1 | pages = 92–97 | year = 2004 | pmid = 15176430 | doi = 10.1080/17431380410032490 | s2cid = 7362563 }}

A mutation in the KCNJ2 gene has also been shown to cause short QT syndrome.{{cite journal | vauthors = 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 | title = A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene | journal = Circulation Research | volume = 96 | issue = 7 | pages = 800–807 | date = April 2005 | pmid = 15761194 | doi = 10.1161/01.RES.0000162101.76263.8c | doi-access = free }}

In neurogenetics, Kir2.1 is used in Drosophila research to inhibit neurons, as overexpression of this channel will hyperpolarize cells.

In optogenetics, a trafficking sequence from Kir2.1 has been added to halorhodopsin to improve its membrane localization. The resulting protein eNpHR3.0 is used in optogenetic research to inhibit neurons with light.{{cite journal | vauthors = Gradinaru V, Zhang F, Ramakrishnan C, Mattis J, Prakash R, Diester I, Goshen I, Thompson KR, Deisseroth K | title = Molecular and cellular approaches for diversifying and extending optogenetics | journal = Cell | volume = 141 | issue = 1 | pages = 154–165 | date = April 2010 | pmid = 20303157 | pmc = 4160532 | doi = 10.1016/j.cell.2010.02.037 }}

Expression of Kir2.1 gene in human HEK293 cells induce a transient outward current, creating a steady membrane potential close to the reversal potential of potassium.{{cite journal | vauthors = Zhang DY, Lau CP, Li GR | title = Human Kir2.1 channel carries a transient outward potassium current with inward rectification | journal = Pflugers Archiv | volume = 457 | issue = 6 | pages = 1275–1285 | date = April 2009 | pmid = 19002489 | doi = 10.1007/s00424-008-0608-0 | s2cid = 3120804 }}

Kir2.1 has been shown to interact with:

• DLG4,{{cite journal | vauthors = Nehring RB, Wischmeyer E, Döring F, Veh RW, Sheng M, Karschin A | title = Neuronal inwardly rectifying K(+) channels differentially couple to PDZ proteins of the PSD-95/SAP90 family | journal = The Journal of Neuroscience | volume = 20 | issue = 1 | pages = 156–162 | date = January 2000 | pmid = 10627592 | pmc = 6774109 | doi = 10.1523/JNEUROSCI.20-01-00156.2000 }}
• Interleukin 16,{{cite journal | vauthors = Kurschner C, Yuzaki M | title = Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein | journal = The Journal of Neuroscience | volume = 19 | issue = 18 | pages = 7770–7780 | date = September 1999 | pmid = 10479680 | pmc = 6782450 | doi = 10.1523/JNEUROSCI.19-18-07770.1999 }} and
• TRAK2{{cite journal | vauthors = Grishin A, Li H, Levitan ES, Zaks-Makhina E | title = Identification of gamma-aminobutyric acid receptor-interacting factor 1 (TRAK2) as a trafficking factor for the K+ channel Kir2.1 | journal = The Journal of Biological Chemistry | volume = 281 | issue = 40 | pages = 30104–30111 | date = October 2006 | pmid = 16895905 | doi = 10.1074/jbc.M602439200 | doi-access = free }}

{{reflist|30em}}

{{refbegin | 2}}

• {{cite journal | vauthors = Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, Lazdunski M, Nichols CG, Seino S, Vandenberg CA | title = International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels | journal = Pharmacological Reviews | volume = 57 | issue = 4 | pages = 509–526 | date = December 2005 | pmid = 16382105 | doi = 10.1124/pr.57.4.11 | s2cid = 11588492 }}
• {{cite journal | vauthors = Wood LS, Tsai TD, Lee KS, Vogeli G | title = Cloning and functional expression of a human gene, hIRK1, encoding the heart inward rectifier K+-channel | journal = Gene | volume = 163 | issue = 2 | pages = 313–317 | date = October 1995 | pmid = 7590287 | doi = 10.1016/0378-1119(95)00244-Z }}
• {{cite journal | vauthors = Kubo Y, Baldwin TJ, Jan YN, Jan LY | title = Primary structure and functional expression of a mouse inward rectifier potassium channel | journal = Nature | volume = 362 | issue = 6416 | pages = 127–133 | date = March 1993 | pmid = 7680768 | doi = 10.1038/362127a0 | s2cid = 4243856 | bibcode = 1993Natur.362..127K }}
• {{cite journal | vauthors = Raab-Graham KF, Radeke CM, Vandenberg CA | title = Molecular cloning and expression of a human heart inward rectifier potassium channel | journal = NeuroReport | volume = 5 | issue = 18 | pages = 2501–2505 | date = December 1994 | pmid = 7696590 | doi = 10.1097/00001756-199412000-00024 }}
• {{cite journal | vauthors = Ashen MD, O'Rourke B, Kluge KA, Johns DC, Tomaselli GF | title = Inward rectifier K+ channel from human heart and brain: cloning and stable expression in a human cell line | journal = The American Journal of Physiology | volume = 268 | issue = 1 Pt 2 | pages = H506–H511 | date = January 1995 | pmid = 7840300 | doi = 10.1152/ajpheart.1995.268.1.H506 }}
• {{cite journal | vauthors = Tang W, Qin CL, Yang XC | title = Cloning, localization, and functional expression of a human brain inward rectifier potassium channel (hIRK1) | journal = Receptors & Channels | volume = 3 | issue = 3 | pages = 175–183 | year = 1996 | pmid = 8821791 }}
• {{cite journal | vauthors = Tare M, Prestwich SA, Gordienko DV, Parveen S, Carver JE, Robinson C, Bolton TB | title = Inwardly rectifying whole cell potassium current in human blood eosinophils | journal = The Journal of Physiology | volume = 506 | issue = Pt 2 | pages = 303–318 | date = January 1998 | pmid = 9490857 | pmc = 2230727 | doi = 10.1111/j.1469-7793.1998.303bw.x }}
• {{cite journal | vauthors = Rae JL, Shepard AR | title = Inwardly rectifying potassium channels in lens epithelium are from the IRK1 (Kir 2.1) family | journal = Experimental Eye Research | volume = 66 | issue = 3 | pages = 347–359 | date = March 1998 | pmid = 9533862 | doi = 10.1006/exer.1997.0432 }}
• {{cite journal | vauthors = Kurschner C, Yuzaki M | title = Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein | journal = The Journal of Neuroscience | volume = 19 | issue = 18 | pages = 7770–7780 | date = September 1999 | pmid = 10479680 | pmc = 6782450 | doi = 10.1523/JNEUROSCI.19-18-07770.1999 | doi-access = free }}
• {{cite journal | vauthors = Tucker SJ, Ashcroft FM | title = Mapping of the physical interaction between the intracellular domains of an inwardly rectifying potassium channel, Kir6.2 | journal = The Journal of Biological Chemistry | volume = 274 | issue = 47 | pages = 33393–33397 | date = November 1999 | pmid = 10559219 | doi = 10.1074/jbc.274.47.33393 | doi-access = free }}
• {{cite journal | vauthors = Nehring RB, Wischmeyer E, Döring F, Veh RW, Sheng M, Karschin A | title = Neuronal inwardly rectifying K(+) channels differentially couple to PDZ proteins of the PSD-95/SAP90 family | journal = The Journal of Neuroscience | volume = 20 | issue = 1 | pages = 156–162 | date = January 2000 | pmid = 10627592 | pmc = 6774109 | doi = 10.1523/JNEUROSCI.20-01-00156.2000 | doi-access = free }}
• {{cite journal | vauthors = Leonoudakis D, Mailliard W, Wingerd K, Clegg D, Vandenberg C | title = Inward rectifier potassium channel Kir2.2 is associated with synapse-associated protein SAP97 | journal = Journal of Cell Science | volume = 114 | issue = Pt 5 | pages = 987–998 | date = March 2001 | pmid = 11181181 | doi = 10.1242/jcs.114.5.987 | doi-access = free }}
• {{cite journal | vauthors = Derst C, Karschin C, Wischmeyer E, Hirsch JR, Preisig-Müller R, Rajan S, Engel H, Grzeschik K, Daut J, Karschin A | title = Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits | journal = FEBS Letters | volume = 491 | issue = 3 | pages = 305–311 | date = March 2001 | pmid = 11240146 | doi = 10.1016/S0014-5793(01)02202-5 | s2cid = 14452157 | doi-access = | bibcode = 2001FEBSL.491..305D }}
• {{cite journal | vauthors = Stockklausner C, Ludwig J, Ruppersberg JP, Klöcker N | title = A sequence motif responsible for ER export and surface expression of Kir2.0 inward rectifier K(+) channels | journal = FEBS Letters | volume = 493 | issue = 2–3 | pages = 129–133 | date = March 2001 | pmid = 11287009 | doi = 10.1016/S0014-5793(01)02286-4 | s2cid = 19230587 | doi-access = free | bibcode = 2001FEBSL.493..129S }}
• {{cite journal | vauthors = Dart C, Leyland ML | title = Targeting of an A kinase-anchoring protein, AKAP79, to an inwardly rectifying potassium channel, Kir2.1 | journal = The Journal of Biological Chemistry | volume = 276 | issue = 23 | pages = 20499–20505 | date = June 2001 | pmid = 11287423 | doi = 10.1074/jbc.M101425200 | doi-access = free }}
• {{cite journal | vauthors = Plaster NM, Tawil R, Tristani-Firouzi M, Canún S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptácek LJ | title = Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome | journal = Cell | volume = 105 | issue = 4 | pages = 511–519 | date = May 2001 | pmid = 11371347 | doi = 10.1016/S0092-8674(01)00342-7 | s2cid = 17015195 | doi-access = free }}
• {{cite journal | vauthors = Jeong JS, Lee HJ, Jung JS, Shin SH, Son YJ, Yoon JH, Lee SH, Lee HS, Yun I, Hwang TH | title = Characterization of inwardly rectifying K(+) conductance across the basolateral membrane of rat tracheal epithelia | journal = Biochemical and Biophysical Research Communications | volume = 288 | issue = 4 | pages = 914–920 | date = November 2001 | pmid = 11688996 | doi = 10.1006/bbrc.2001.5831 }}
• {{cite journal | vauthors = Giovannardi S, Forlani G, Balestrini M, Bossi E, Tonini R, Sturani E, Peres A, Zippel R | title = Modulation of the inward rectifier potassium channel IRK1 by the Ras signaling pathway | journal = The Journal of Biological Chemistry | volume = 277 | issue = 14 | pages = 12158–12163 | date = April 2002 | pmid = 11809752 | doi = 10.1074/jbc.M110466200 | doi-access = free }}
• {{cite journal | vauthors = Preisig-Müller R, Schlichthörl G, Goerge T, Heinen S, Brüggemann A, Rajan S, Derst C, Veh RW, Daut J | title = Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 99 | issue = 11 | pages = 7774–7779 | date = May 2002 | pmid = 12032359 | pmc = 124349 | doi = 10.1073/pnas.102609499 | doi-access = free | bibcode = 2002PNAS...99.7774P }}
• {{cite journal | vauthors = Ai T, Fujiwara Y, Tsuji K, Otani H, Nakano S, Kubo Y, Horie M | title = Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia | journal = Circulation | volume = 105 | issue = 22 | pages = 2592–2594 | date = June 2002 | pmid = 12045162 | doi = 10.1161/01.CIR.0000019906.35135.A3 | doi-access = free }}

{{refend}}

• [https://www.ncbi.nlm.nih.gov/books/NBK1264/ GeneReviews/NCBI/NIH/UW entry on Andersen-Tawil syndrome]
• [https://www.ncbi.nlm.nih.gov/omim/170390,600681,170390,600681 OMIM entries on Anderson-Tawil syndrome]
• {{MeshName|KCNJ2+protein,+human}}
• {{MeshName|Kir2.1+channel}}

{{PDB Gallery|geneid=3759}}

{{Ion channels|g3}}

Category:Ion channels

{{membrane-protein-stub}}