Menu
Home
People
Places
Arts
History
Plants & Animals
Science
Life & Culture
Technology
Reference.org
Kir6.2
open-in-new
<h2 id="structure">Structure</h2> <p>It is an integral membrane protein. The protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by <a href="/facts/G-protein/HKkcfgGP">G-proteins</a> and is found associated with the <a href="/facts/Sulfonylurea_receptor/Kj9hnIzc">sulfonylurea receptor</a> (SUR) to constitute the ATP-sensitive K+ channel. </p> <h2 id="pathology">Pathology</h2> <p>Mutations in this gene are a cause of <a href="/facts/Congenital_hyperinsulinism/VeIYpBsj">congenital hyperinsulinism</a> (CHI), an autosomal recessive disorder characterized by unregulated insulin secretion.<a class="footnote-ref" id="fnref:3" href="#fn:3"><sup>3</sup></a> Defects in this gene may also contribute to <a href="/facts/Autosomal_dominant/DsvtPyQU">autosomal dominant</a> <a href="/facts/Non-insulin-dependent_diabetes_mellitus_type_II/zCMXksmt">non-insulin-dependent diabetes mellitus type II</a> (NIDDM).<a class="footnote-ref" id="fnref:4" href="#fn:4"><sup>4</sup></a><a class="footnote-ref" id="fnref:5" href="#fn:5"><sup>5</sup></a> </p> <h2 id="see-also">See also</h2> <ul><li><a href="/facts/Inward-rectifier_potassium_ion_channel/VYuvrz8U">Inward-rectifier potassium ion channel</a></li> <li><a href="/facts/Potassium_channel/0QHmrHPn">Potassium channel</a></li></ul> <h2 id="further-reading">Further reading</h2> <ul><li>Aguilar-Bryan L, Bryan J (April 1999). <a href="https://doi.org/10.1210%2Fedrv.20.2.0361">"Molecular biology of adenosine triphosphate-sensitive potassium channels"</a>. <i>Endocrine Reviews</i>. 20 (2): 101–135. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1210%2Fedrv.20.2.0361">10.1210/edrv.20.2.0361</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10204114">10204114</a>.</li> <li>Meissner T, Beinbrech B, Mayatepek E (1999). <a href="https://doi.org/10.1002%2F%28SICI%291098-1004%281999%2913%3A5%3C351%3A%3AAID-HUMU3%3E3.0.CO%3B2-R">"Congenital hyperinsulinism: molecular basis of a heterogeneous disease"</a>. <i>Human Mutation</i>. 13 (5): 351–361. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1002%2F%28SICI%291098-1004%281999%2913%3A5%3C351%3A%3AAID-HUMU3%3E3.0.CO%3B2-R">10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO;2-R</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10338089">10338089</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:30125046">30125046</a>.</li> <li>Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, et al. (December 2005). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". <i>Pharmacological Reviews</i>. 57 (4): 509–526. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1124%2Fpr.57.4.11">10.1124/pr.57.4.11</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/16382105">16382105</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:11588492">11588492</a>.</li> <li>Gloyn AL, Siddiqui J, Ellard S (March 2006). <a href="https://doi.org/10.1002%2Fhumu.20292">"Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism"</a>. <i>Human Mutation</i>. 27 (3): 220–231. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1002%2Fhumu.20292">10.1002/humu.20292</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/16416420">16416420</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:38053792">38053792</a>.</li> <li>Flechtner I, de Lonlay P, Polak M (December 2006). "Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences". <i>Diabetes & Metabolism</i>. 32 (6): 569–580. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS1262-3636%2807%2970311-7">10.1016/S1262-3636(07)70311-7</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/17296510">17296510</a>.</li> <li>Inagaki N, Gonoi T, Clement JP, Namba N, Inazawa J, Gonzalez G, et al. (November 1995). "Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor". <i>Science</i>. 270 (5239): 1166–1170. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/1995Sci...270.1166I">1995Sci...270.1166I</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1126%2Fscience.270.5239.1166">10.1126/science.270.5239.1166</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/7502040">7502040</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:26409797">26409797</a>.</li> <li>Thomas PM, Cote GJ, Hallman DM, Mathew PM (February 1995). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801118">"Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy"</a>. <i>American Journal of Human Genetics</i>. 56 (2): 416–421. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801118">1801118</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/7847376">7847376</a>.</li> <li>Iwasaki N, Kawamura M, Yamagata K, Cox NJ, Karibe S, Ohgawara H, et al. (February 1996). "Identification of microsatellite markers near the human genes encoding the beta-cell ATP-sensitive K+ channel and linkage studies with NIDDM in Japanese". <i>Diabetes</i>. 45 (2): 267–269. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.2337%2Fdiabetes.45.2.267">10.2337/diabetes.45.2.267</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8549873">8549873</a>.</li> <li>Sakura H, Wat N, Horton V, Millns H, Turner RC, Ashcroft FM (October 1996). "Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in while Caucasian subjects or evidence of abnormal function when expressed in vitro". <i>Diabetologia</i>. 39 (10): 1233–1236. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1007%2FBF02658512">10.1007/BF02658512</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8897013">8897013</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:9490874">9490874</a>.</li> <li>Thomas P, Ye Y, Lightner E (November 1996). <a href="https://doi.org/10.1093%2Fhmg%2F5.11.1809">"Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy"</a>. <i>Human Molecular Genetics</i>. 5 (11): 1809–1812. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1093%2Fhmg%2F5.11.1809">10.1093/hmg/5.11.1809</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8923010">8923010</a>.</li> <li>Inoue H, Ferrer J, Warren-Perry M, Zhang Y, Millns H, Turner RC, et al. (March 1997). "Sequence variants in the pancreatic islet beta-cell inwardly rectifying K+ channel Kir6.2 (Bir) gene: identification and lack of role in Caucasian patients with NIDDM". <i>Diabetes</i>. 46 (3): 502–507. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.2337%2Fdiabetes.46.3.502">10.2337/diabetes.46.3.502</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9032109">9032109</a>.</li> <li>Tucker SJ, Gribble FM, Zhao C, Trapp S, Ashcroft FM (May 1997). "Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor". <i>Nature</i>. 387 (6629): 179–183. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/1997Natur.387..179T">1997Natur.387..179T</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2F387179a0">10.1038/387179a0</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9144288">9144288</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:21570773">21570773</a>.</li> <li>Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, et al. (July 1999). "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis". <i>Nature Genetics</i>. 22 (3): 239–247. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2F10297">10.1038/10297</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10391210">10391210</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:4636523">4636523</a>.</li> <li>Tucker SJ, Ashcroft FM (November 1999). <a href="https://doi.org/10.1074%2Fjbc.274.47.33393">"Mapping of the physical interaction between the intracellular domains of an inwardly rectifying potassium channel, Kir6.2"</a>. <i>The Journal of Biological Chemistry</i>. 274 (47): 33393–33397. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1074%2Fjbc.274.47.33393">10.1074/jbc.274.47.33393</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10559219">10559219</a>.</li> <li>Cui Y, Giblin JP, Clapp LH, Tinker A (January 2001). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC14656">"A mechanism for ATP-sensitive potassium channel diversity: Functional coassembly of two pore-forming subunits"</a>. <i>Proceedings of the National Academy of Sciences of the United States of America</i>. 98 (2): 729–734. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1073%2Fpnas.011370498">10.1073/pnas.011370498</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC14656">14656</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11136227">11136227</a>.</li> <li>Giblin JP, Cui Y, Clapp LH, Tinker A (April 2002). <a href="https://doi.org/10.1074%2Fjbc.M112209200">"Assembly limits the pharmacological complexity of ATP-sensitive potassium channels"</a>. <i>The Journal of Biological Chemistry</i>. 277 (16): 13717–13723. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1074%2Fjbc.M112209200">10.1074/jbc.M112209200</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11825905">11825905</a>.</li> <li>Crawford RM, Budas GR, Jovanović S, Ranki HJ, Wilson TJ, Davies AM, Jovanović A (August 2002). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC126135">"M-LDH serves as a sarcolemmal K(ATP) channel subunit essential for cell protection against ischemia"</a>. <i>The EMBO Journal</i>. 21 (15): 3936–3948. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1093%2Femboj%2Fcdf388">10.1093/emboj/cdf388</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC126135">126135</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12145195">12145195</a>.</li> <li>Tschritter O, Stumvoll M, Machicao F, Holzwarth M, Weisser M, Maerker E, et al. (September 2002). <a href="https://doi.org/10.2337%2Fdiabetes.51.9.2854">"The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.2) gene is associated with impaired glucagon suppression in response to hyperglycemia"</a>. <i>Diabetes</i>. 51 (9): 2854–2860. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.2337%2Fdiabetes.51.9.2854">10.2337/diabetes.51.9.2854</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12196481">12196481</a>.</li></ul> <h2 id="external-links">External links</h2> <ul><li><a href="https://www.ncbi.nlm.nih.gov/books/NBK1375/">GeneReviews/NCBI/NIH/UW entry on Familial Hyperinsulinism</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dmn">GeneReviews/NCBI/NIH/UW entry on Permanent Neonatal Diabetes Mellitus</a></li> <li><a href="https://meshb.nlm.nih.gov/record/ui?name=KCNJ11+protein%2C+human">KCNJ11+protein,+human</a> at the U.S. National Library of Medicine <a href="/facts/Medical_Subject_Headings/C57g2JuF">Medical Subject Headings</a> (MeSH)</li> <li><a href="https://meshb.nlm.nih.gov/record/ui?name=SUR1+protein%2C+human">SUR1+protein,+human</a> at the U.S. National Library of Medicine <a href="/facts/Medical_Subject_Headings/C57g2JuF">Medical Subject Headings</a> (MeSH)</li></ul> <p><i>This article incorporates text from the <a href="/facts/United_States_National_Library_of_Medicine/Hzty0MCX">United States National Library of Medicine</a>, which is in the <a href="/facts/Public_domain/YWKMDKw4">public domain</a>.</i> </p> <h2 id="references">References</h2> <ol> <li id="fn:1"><p>"Entrez Gene: KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3767" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3767</a> <a href="#fnref:1" class="footnote-back-ref">↩</a></p></li> <li id="fn:2"><p>Smith AJ, Taneja TK, Mankouri J, Sivaprasadarao A (August 2007). "Molecular cell biology of KATP channels: implications for neonatal diabetes". Expert Reviews in Molecular Medicine. 9 (21): 1–17. doi:10.1017/S1462399407000403. PMID 17666135. S2CID 24280714. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:2" class="footnote-back-ref">↩</a></p></li> <li id="fn:3"><p>Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K (April 2013). "Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism". European Journal of Endocrinology. 168 (4): 557–564. doi:10.1530/EJE-12-0673. PMC 3599069. PMID 23345197. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599069" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599069</a> <a href="#fnref:3" class="footnote-back-ref">↩</a></p></li> <li id="fn:4"><p>"Entrez Gene: KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3767" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3767</a> <a href="#fnref:4" class="footnote-back-ref">↩</a></p></li> <li id="fn:5"><p>Koo BK, Cho YM, Park BL, Cheong HS, Shin HD, Jang HC, et al. (February 2007). "Polymorphisms of KCNJ11 (Kir6.2 gene) are associated with Type 2 diabetes and hypertension in the Korean population". Diabetic Medicine. 24 (2): 178–186. doi:10.1111/j.1464-5491.2006.02050.x. PMID 17257281. S2CID 22127350. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:5" class="footnote-back-ref">↩</a></p></li> </ol>