Kir2.1

Potassium inwardly-rectifying channel, subfamily J, member 2
PDB rendering based on 1u4f.
Available structures PDB 1u4f, 2gix
Identifiers
Symbols	KCNJ2; HHBIRK1; HHIRK1; IRK1; KIR2.1; LQT7; SQT3
External IDs	OMIM: 600681 MGI: 104744 HomoloGene: 20249 IUPHAR: Kir2.1 GeneCards: KCNJ2 Gene
Gene Ontology Molecular function • inward rectifier potassium channel activity • voltage-gated ion channel activity • protein binding Cellular component • plasma membrane • integral to plasma membrane Biological process • ion transport • potassium ion transport • synaptic transmission Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	3759	16518
Ensembl	ENSG00000123700	ENSMUSG00000041695
UniProt	P63252	Q543W5
RefSeq (mRNA)	NM_000891.2	NM_008425.4
RefSeq (protein)	NP_000882.1	NP_032451.1
Location (UCSC)	Chr 17: 68.16 – 68.18 Mb	Chr 11: 110.93 – 110.94 Mb
PubMed search	[1]	[2]

The K_ir2.1 inward-rectifier potassium ion channel is encoded by the KCNJ2 gene.

Clinical significance

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

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

Interactions

Kir2.1 has been shown to interact with DLG4, TRAK2 and Interleukin 16.

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. doi:10.1097/00001756-199412000-00024. 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) (2): 303–18. doi:10.1111/j.1469-7793.1998.303bw.x. PMC 2230727. PMID 9490857. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2230727. 
• 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. PMC 124349. PMID 12032359. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=124349. 
• 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

• GeneReviews/NCBI/NIH/UW entry on Andersen-Tawil syndrome
• OMIM entries on Anderson-Tawil syndrome
• MeSH KCNJ2+protein,+human
• MeSH Kir2.1+channel