Gene Symbol: KCNJ11
Description: potassium voltage-gated channel subfamily J member 11
Alias: BIR, HHF2, IKATP, KIR6.2, MODY13, PHHI, TNDM3, ATP-sensitive inward rectifier potassium channel 11, beta-cell inward rectifier subunit, inward rectifier K(+) channel Kir6.2, inwardly rectifing potassium channel subfamily J member 11, inwardly rectifying potassium channel KIR6.2, inwardly-rectifying potassium channel subfamily J member 11, potassium channel inwardly rectifing subfamily J member 11, potassium channel, inwardly rectifying subfamily J member 11, potassium inwardly-rectifying channel, subfamily J, member 11
Species: human
Products:     KCNJ11

Top Publications

  1. Herder C, Rathmann W, Strassburger K, Finner H, Grallert H, Huth C, et al. Variants of the PPARG, IGF2BP2, CDKAL1, HHEX, and TCF7L2 genes confer risk of type 2 diabetes independently of BMI in the German KORA studies. Horm Metab Res. 2008;40:722-6 pubmed publisher
    ..05), but not for WFS1, CDKN2A/B, KCNJ11, or EXT2...
  2. Curley M, Cairns M, Friel A, McMeel O, Morrison J, Smith T. Expression of mRNA transcripts for ATP-sensitive potassium channels in human myometrium. Mol Hum Reprod. 2002;8:941-5 pubmed
    ..05) were still observed. Our results indicate that the major K(ATP) channel expressed in human myometrium is composed of Kir6.1 and SUR2B, and that down-regulation of this channel may facilitate myometrial function during late pregnancy...
  3. Pascoe L, Frayling T, Weedon M, Mari A, Tura A, Ferrannini E, et al. Beta cell glucose sensitivity is decreased by 39% in non-diabetic individuals carrying multiple diabetes-risk alleles compared with those with no risk alleles. Diabetologia. 2008;51:1989-92 pubmed publisher
    ..Risk alleles for CDKN2A/B, SLC30A8, IGF2BP2 and KCNJ11 loci were subsequently included into the analysis...
  4. Doi Y, Kubo M, Ninomiya T, Yonemoto K, Iwase M, Arima H, et al. Impact of Kir6.2 E23K polymorphism on the development of type 2 diabetes in a general Japanese population: The Hisayama Study. Diabetes. 2007;56:2829-33 pubmed
    ..006; alleles, P = 0.001). Our findings suggest that the Kir6.2 E23K polymorphism is an independent genetic risk factor for diabetes in the general Japanese population. ..
  5. Yamada Y, Kuroe A, Li Q, Someya Y, Kubota A, Ihara Y, et al. Genomic variation in pancreatic ion channel genes in Japanese type 2 diabetic patients. Diabetes Metab Res Rev. 2001;17:213-6 pubmed
  6. Gupta V, Khadgawat R, Ng H, Kumar S, Aggarwal A, Rao V, et al. A validation study of type 2 diabetes-related variants of the TCF7L2, HHEX, KCNJ11, and ADIPOQ genes in one endogamous ethnic group of north India. Ann Hum Genet. 2010;74:361-8 pubmed publisher
    ..of this study was to validate the single nucleotide polymorphisms (SNPs) of four candidate genes (TCF7L2, HHEX, KCNJ11, and ADIPOQ) related to type 2 diabetes (T2D) in an endogamous population of north India; the Aggarwal population, ..
  7. Willer C, Bonnycastle L, Conneely K, Duren W, Jackson A, Scott L, et al. Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes. Diabetes. 2007;56:256-64 pubmed
    ..In the combined data, we replicated association (P < 0.05) for 12 SNPs: PPARG Pro12Ala and His447, KCNJ11 Glu23Lys and rs5210, TNF -857, SLC2A2 Ile110Thr, HNF1A/TCF1 rs2701175 and GE117881_360, PCK1 -232, NEUROD1 ..
  8. Li J, Kline C, Hund T, Anderson M, Mohler P. Ankyrin-B regulates Kir6.2 membrane expression and function in heart. J Biol Chem. 2010;285:28723-30 pubmed publisher
    ..Collectively, our new findings define a new role for cardiac ankyrin polypeptides in regulation of ion channel membrane expression in heart...
  9. Thomas P, Ye Y, Lightner E. Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet. 1996;5:1809-12 pubmed
    ..have been identified in individuals affected with familial persistent hyper-insulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder of glucose metabolism which is linked to chromosome 11p15...

More Information

Publications102 found, 100 shown here

  1. Tucker S, Gribble F, Zhao C, Trapp S, Ashcroft F. Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor. Nature. 1997;387:179-83 pubmed
    ..We show here that the primary site at which ATP acts to mediate K-ATP channel inhibition is located on Kir6.2, and that SUR1 is required for sensitivity to sulphonylureas and diazoxide and for activation by Mg-ADP...
  2. Thorsby P, Midthjell K, Gjerlaugsen N, Holmen J, Hanssen K, Birkeland K, et al. Comparison of genetic risk in three candidate genes (TCF7L2, PPARG, KCNJ11) with traditional risk factors for type 2 diabetes in a population-based study--the HUNT study. Scand J Clin Lab Invest. 2009;69:282-7 pubmed publisher
    ..5 mmol/L. Four candidate polymorphisms in the three genes TCF7L2 (rs12255372 and rs7903146), PPARG (rs1801282), KCNJ11 (rs5219) and traditional risk factors were studied...
  3. Codner E, Flanagan S, Ellard S, Garcia H, Hattersley A. High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation. Diabetes Care. 2005;28:758-9 pubmed
  4. Slingerland A, Hattersley A. Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes. J Clin Endocrinol Metab. 2006;91:2782-8 pubmed
    ..2 mutated fetal beta-cell is still glucose responsive or there is a non-insulin-mediated increase in fetal growth. Postnatal catch-up requires insulin treatment but is complete, except in those with epilepsy. ..
  5. Qi L, van Dam R, Asselbergs F, Hu F. Gene-gene interactions between HNF4A and KCNJ11 in predicting Type 2 diabetes in women. Diabet Med. 2007;24:1187-91 pubmed
    ..2 gene (KCNJ11)...
  6. Ruchat S, Rankinen T, Weisnagel S, Rice T, Rao D, Bergman R, et al. Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family Study. Diabetologia. 2010;53:679-89 pubmed publisher
    ..2 diabetes genes (CDKAL1 rs7756992; CDKN2A and CDKN2B rs10811661 and rs564398; HHEX rs7923837; IGF2BP2 rs4402960; KCNJ11 rs5215; PPARG rs1801282; and TCF7L2 rs7903146) in a maximum of 481 sedentary, non-diabetic white individuals, who ..
  7. Inoue H, Ferrer J, Warren Perry M, Zhang Y, Millns H, Turner R, et al. 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. Diabetes. 1997;46:502-7 pubmed
    ..The cloning of the gene encoding the beta-cell inward rectifier Kir6.2 (Bir), a subunit of the beta-cell KATP channel, provided the opportunity to look for mutations in this gene that might ..
  8. Ellard S, Flanagan S, Girard C, Patch A, Harries L, Parrish A, et al. Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. Am J Hum Genet. 2007;81:375-82 pubmed
    Heterozygous activating mutations in the KCNJ11 gene encoding the pore-forming Kir6.2 subunit of the pancreatic beta cell K(ATP) channel are the most common cause of permanent neonatal diabetes (PNDM)...
  9. Pulizzi N, Lyssenko V, Jonsson A, Osmond C, Laakso M, Kajantie E, et al. Interaction between prenatal growth and high-risk genotypes in the development of type 2 diabetes. Diabetologia. 2009;52:825-9 pubmed publisher
    ..to investigate whether there is an interaction between birthweight and common variants in the TCF7L2, HHEX, PPARG, KCNJ11, SLC30A8, IGF2BP2, CDKAL1, CDKN2A/2B and JAZF1 genes in the risk of developing type 2 diabetes...
  10. Yorifuji T, Nagashima K, Kurokawa K, Kawai M, Oishi M, Akazawa Y, et al. The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus. J Clin Endocrinol Metab. 2005;90:3174-8 pubmed
    ..We identified a novel mutation (C42R) in the KCNJ11 gene coding for the Kir6.2 subunit of the pancreatic ATP-sensitive potassium channel...
  11. Zeggini E, Weedon M, Lindgren C, Frayling T, Elliott K, Lango H, et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science. 2007;316:1336-41 pubmed
    ..The regions identified underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 2 diabetes. ..
  12. Omori S, Tanaka Y, Takahashi A, Hirose H, Kashiwagi A, Kaku K, et al. Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population. Diabetes. 2008;57:791-5 pubmed
    ..rs11037909 in EXT2, rs9939609 and rs8050136 in FTO, rs7756992 in CDKAL1, rs1801282 in PPARG Pro12Ara, rs5219 in KCNJ11 Glu23Lys, rs7480010 in LOC387761, and rs9300039 in Ch11) in 1,630 Japanese subjects with type 2 diabetes and in 1,..
  13. Reyes S, Terzic A, Mahoney D, Redfield M, Rodeheffer R, Olson T. K(ATP) channel polymorphism is associated with left ventricular size in hypertensive individuals: a large-scale community-based study. Hum Genet. 2008;123:665-7 pubmed publisher
    ..These findings implicate Kir6.2 K23 as a risk factor for adverse subclinical myocardial remodeling, and underscore the significance of cardiac K(ATP) channels within the population. ..
  14. Sanghera D, Ortega L, Han S, Singh J, Ralhan S, Wander G, et al. Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk. BMC Med Genet. 2008;9:59 pubmed publisher
    ..transcription factor-7-like 2 (TCF7L2; rs 10885409); potassium inwardly rectifying channel subfamily J member 11(KCNJ11; rs 5219); and fat mass obesity-associated gene (FTO; rs 9939609)]...
  15. Girard C, Shimomura K, Proks P, Absalom N, Castano L, Perez de Nanclares G, et al. Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes. Pflugers Arch. 2006;453:323-32 pubmed
    ..Heterozygous activating mutations in Kir6.2 (KCNJ11) are a common cause of neonatal diabetes (ND). We assessed the functional effects of six novel Kir6...
  16. Edghill E, Flanagan S, Ellard S. Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. Rev Endocr Metab Disord. 2010;11:193-8 pubmed publisher
    ..Activating mutations have been identified in the genes encoding these subunits, ABCC8 and KCNJ11, and account for approximately 40% of permanent neonatal diabetes cases...
  17. Riedel M, Light P. Saturated and cis/trans unsaturated acyl CoA esters differentially regulate wild-type and polymorphic beta-cell ATP-sensitive K+ channels. Diabetes. 2005;54:2070-9 pubmed
  18. Cauchi S, Nead K, Choquet H, Horber F, Potoczna N, Balkau B, et al. The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies. BMC Med Genet. 2008;9:45 pubmed publisher
    ..We genotyped RETN, KCNJ11, HNF4A, HNF1A, GCK, SLC30A8, ENPP1, ADIPOQ, PPARG, and TCF7L2 polymorphisms in 1,283 normoglycemic (NG) and 1,581 ..
  19. James C, Kapoor R, Ismail D, Hussain K. The genetic basis of congenital hyperinsulinism. J Med Genet. 2009;46:289-99 pubmed publisher
    ..Recessive inactivating mutations in ABCC8 and KCNJ11 (which encode the two subunits of the adenosine triphosphate sensitive potassium channels (ATP sensitive K(ATP) ..
  20. Gonen M, Arikoglu H, Erkoc Kaya D, Ozdemir H, Ipekci S, Arslan A, et al. Effects of single nucleotide polymorphisms in K(ATP) channel genes on type 2 diabetes in a Turkish population. Arch Med Res. 2012;43:317-23 pubmed publisher
    ..inwardly, and the SUR1 protein that surrounds it forming the outside part of the channel were encoded by ABCC8 and KCNJ11 genes, respectively...
  21. Scott L, Mohlke K, Bonnycastle L, Willer C, Li Y, Duren W, et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science. 2007;316:1341-5 pubmed
    ..and CDKAL1 and the region of CDKN2A and CDKN2B, and confirm that variants near TCF7L2, SLC30A8, HHEX, FTO, PPARG, and KCNJ11 are associated with T2D risk. This brings the number of T2D loci now confidently identified to at least 10.
  22. Villareal D, Koster J, Robertson H, Akrouh A, Miyake K, Bell G, et al. Kir6.2 variant E23K increases ATP-sensitive K+ channel activity and is associated with impaired insulin release and enhanced insulin sensitivity in adults with normal glucose tolerance. Diabetes. 2009;58:1869-78 pubmed publisher
    ..To avoid confounding effects of hyperglycemia, insulin secretion and action were studied in subjects with the variant who had normal glucose tolerance...
  23. Hamming K, Soliman D, Matemisz L, Niazi O, Lang Y, Gloyn A, et al. Coexpression of the type 2 diabetes susceptibility gene variants KCNJ11 E23K and ABCC8 S1369A alter the ATP and sulfonylurea sensitivities of the ATP-sensitive K(+) channel. Diabetes. 2009;58:2419-24 pubmed publisher
    ..2 and SUR1 subunits encoded by KCNJ11 and ABCC8, respectively. Sulfonylureas, which inhibit the K(ATP) channel, are used to treat type 2 diabetes...
  24. Barroso I, Luan J, Middelberg R, Harding A, Franks P, Jakes R, et al. Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action. PLoS Biol. 2003;1:E20 pubmed
    ..encoding molecules known to primarily influence pancreatic beta-cell function-ABCC8 (sulphonylurea receptor), KCNJ11 (KIR6...
  25. Edghill E, Flanagan S, Patch A, Boustred C, Parrish A, Shields B, et al. Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes. 2008;57:1034-42 pubmed
    ..8 weeks, P < 0.01). In 279 patients with PND, the frequency of KCNJ11, ABCC8, and INS gene mutations was 31, 10, and 12%, respectively...
  26. Qin L, Lv Y, Huang Q. Meta-analysis of association of common variants in the KCNJ11-ABCC8 region with type 2 diabetes. Genet Mol Res. 2013;12:2990-3002 pubmed publisher
    b>KCNJ11 (potassium inwardly rectifying channel, subfamily J, member 11) and ABCC8 (ATP-binding cassette, subfamily C (CFTR/MRP), member 8) have been studied for association with type 2 diabetes in various ethnic populations with ..
  27. Flanagan S, Patch A, Mackay D, Edghill E, Gloyn A, Robinson D, et al. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes. 2007;56:1930-7 pubmed
    ..We determined the 6q24 status in 97 patients with TNDM. In patients in whom no abnormality was identified, the KCNJ11 gene and/or ABCC8 gene, which encode the Kir6...
  28. Yang L, Zhou X, Luo Y, Sun X, Tang Y, Guo W, et al. Association between KCNJ11 gene polymorphisms and risk of type 2 diabetes mellitus in East Asian populations: a meta-analysis in 42,573 individuals. Mol Biol Rep. 2012;39:645-59 pubmed publisher
    ..been performed to identify the association between potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) gene and type 2 diabetes mellitus (T2DM) in East Asian populations, with inconsistent results...
  29. He Y, Zhang R, Shao X, Hu C, Wang C, Lu J, et al. Association of KCNJ11 and ABCC8 genetic polymorphisms with response to repaglinide in Chinese diabetic patients. Acta Pharmacol Sin. 2008;29:983-9 pubmed publisher
    The aim of this study was to investigate the association of KCNJ11 E23K and ABCC8 exon16-3T/C with the therapeutic effect of repaglinide in patients with type 2 diabetes.
  30. Vaxillaire M, Populaire C, Busiah K, Cave H, Gloyn A, Hattersley A, et al. Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes. 2004;53:2719-22 pubmed
    ..It has very recently been shown that heterozygous activating mutations in the KCNJ11 gene, encoding the Kir6...
  31. Proks P, Girard C, Ashcroft F. Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP. Hum Mol Genet. 2005;14:2717-26 pubmed
    Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6...
  32. Flanagan S, Edghill E, Gloyn A, Ellard S, Hattersley A. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia. 2006;49:1190-7 pubmed
    Heterozygous activating mutations in KCNJ11, which encodes the Kir6.2 subunit of the pancreatic ATP-sensitive potassium (K(ATP)) channel, cause both permanent and transient neonatal diabetes...
  33. Holstein A, Hahn M, Stumvoll M, Kovacs P. The E23K variant of KCNJ11 and the risk for severe sulfonylurea-induced hypoglycemia in patients with type 2 diabetes. Horm Metab Res. 2009;41:387-90 pubmed publisher
    ..We investigated the effects of the E23K variant of KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11) on risk for SH in patients with type 2 diabetes (..
  34. Neuman R, Wasson J, Atzmon G, Wainstein J, Yerushalmi Y, Cohen J, et al. Gene-gene interactions lead to higher risk for development of type 2 diabetes in an Ashkenazi Jewish population. PLoS ONE. 2010;5:e9903 pubmed publisher
    ..used to study interactions among 4 SNPs, one each from HNF4A[rs1884613], TCF7L2[rs12255372], WFS1[rs10010131], and KCNJ11[rs5219] in a case-control Ashkenazi sample of 974 diabetic subjects and 896 controls...
  35. t Hart L, van Haeften T, Dekker J, Bot M, Heine R, Maassen J. Variations in insulin secretion in carriers of the E23K variant in the KIR6.2 subunit of the ATP-sensitive K(+) channel in the beta-cell. Diabetes. 2002;51:3135-8 pubmed
    ..We conclude that the E23K mutation in the KIR6.2 gene is not associated with detectable alterations in glucose-stimulated insulin secretion in two independent populations from the Netherlands...
  36. Tammaro P, Girard C, Molnes J, Njølstad P, Ashcroft F. Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions. EMBO J. 2005;24:2318-30 pubmed
    ..2-F333I mutation, and was abolished by SUR1 mutations that prevent MgATP binding/hydrolysis. Further analysis of F333I heterozygous channels indicated that at least three SUR1 must bind/hydrolyse MgATP to open the mutant K(ATP) channel...
  37. Xiong C, Zheng F, Wan J, Zhou X, Yin Z, Sun X. The E23K polymorphism in Kir6.2 gene and coronary heart disease. Clin Chim Acta. 2006;367:93-7 pubmed
    ..0% vs. 28.7%, and 58.0% vs. 71.3%, P<0.050). The E23K gene polymorphism in Kir6.2 gene appeared to be related to high susceptibility to CHD. ..
  38. Sakamoto Y, Inoue H, Keshavarz P, Miyawaki K, Yamaguchi Y, Moritani M, et al. SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese population. J Hum Genet. 2007;52:781-93 pubmed
    Many genetic association studies support a contribution of genetic variants in the KCNJ11-ABCC8 gene locus to type 2 diabetes (T2D) susceptibility in Caucasians...
  39. Lin X, Song K, Lim N, Yuan X, Johnson T, Abderrahmani A, et al. Risk prediction of prevalent diabetes in a Swiss population using a weighted genetic score--the CoLaus Study. Diabetologia. 2009;52:600-8 pubmed publisher
    ..In this population, a simple weighted 15 SNP-based genetic score provides additional information over clinical predictors of prevalent diabetes. At this stage, however, the clinical benefit of this genetic information is limited. ..
  40. Miyake K, Yang W, Hara K, Yasuda K, Horikawa Y, Osawa H, et al. Construction of a prediction model for type 2 diabetes mellitus in the Japanese population based on 11 genes with strong evidence of the association. J Hum Genet. 2009;54:236-41 pubmed publisher
    ..We then selected 11 genes, KCNQ1, TCF7L2, CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, HHEX, GCKR, HNF1B, KCNJ11 and PPARG, whose associations with diabetes have already been reported and replicated either in the literature or ..
  41. Ezzidi I, Mtiraoui N, Cauchi S, Vaillant E, Dechaume A, Chaieb M, et al. Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study. BMC Med Genet. 2009;10:33 pubmed publisher
    ..living in the East-Center of Tunisia was used to analyze the contribution to T2D of the following SNPs: E23K in KCNJ11/Kir6...
  42. Zhou D, Zhang D, Liu Y, Zhao T, Chen Z, Liu Z, et al. The E23K variation in the KCNJ11 gene is associated with type 2 diabetes in Chinese and East Asian population. J Hum Genet. 2009;54:433-5 pubmed publisher
    The genes (ABCC8 and KCNJ11) have a key role in glucose-stimulated insulin secretion and thus have always been considered as excellent susceptibility candidates for involvement in type 2 diabetes...
  43. Chauhan G, Spurgeon C, Tabassum R, Bhaskar S, Kulkarni S, Mahajan A, et al. Impact of common variants of PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 on the risk of type 2 diabetes in 5,164 Indians. Diabetes. 2010;59:2068-74 pubmed publisher
    Common variants in PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 genes have been shown to be associated with type 2 diabetes in European populations by genome-wide association studies...
  44. Gloyn A, Reimann F, Girard C, Edghill E, Proks P, Pearson E, et al. Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet. 2005;14:925-34 pubmed
    ..Abnormalities of 6q24 are the commonest cause of transient neonatal diabetes (TNDM). Mutations in KCNJ11, which encodes Kir6...
  45. Slingerland A, Nuboer R, Hadders Algra M, Hattersley A, Bruining G. Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation i. Diabetologia. 2006;49:2559-63 pubmed
    Activating mutations in the KCNJ11 gene encoding the Kir6.2 subunit of the K(ATP) channels in pancreatic beta cells are a common cause of neonatal diabetes...
  46. Florez J, Jablonski K, Kahn S, Franks P, Dabelea D, Hamman R, et al. Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program. Diabetes. 2007;56:531-6 pubmed
    The common polymorphisms KCNJ11 E23K and ABCC8 A1369S have been consistently associated with type 2 diabetes...
  47. Koster J, Cadario F, Peruzzi C, Colombo C, Nichols C, Barbetti F. The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy. J Clin Endocrinol Metab. 2008;93:1054-61 pubmed
    Mutations in the Kir6.2 subunit (KCNJ11) of the ATP-sensitive potassium channel (KATP) underlie neonatal diabetes mellitus. In severe cases, Kir6.2 mutations underlie developmental delay, epilepsy, and neonatal diabetes (DEND). All Kir6...
  48. Chistiakov D, Potapov V, Khodirev D, Shamkhalova M, Shestakova M, Nosikov V. Genetic variations in the pancreatic ATP-sensitive potassium channel, beta-cell dysfunction, and susceptibility to type 2 diabetes. Acta Diabetol. 2009;46:43-9 pubmed publisher
    The KCNJ11 and ABCC8 genes encode the components of the pancreatic ATP-sensitive potassium (KATP) channel, which regulates insulin secretion by beta-cells and hence could be involved in the pathogenesis of type 2 diabetes (T2D)...
  49. Gloyn A, Hashim Y, Ashcroft S, Ashfield R, Wiltshire S, Turner R. Association studies of variants in promoter and coding regions of beta-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53). Diabet Med. 2001;18:206-12 pubmed
    ..Secondly, novel and previously described variants associated with Type 2 diabetes (SUR1 exon 16-3t, exon 18 T, and Kir6.2 E23K) were investigated in the UKPDS cohort...
  50. Kokubo Y, Tomoike H, Tanaka C, Banno M, Okuda T, Inamoto N, et al. Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension. Hypertens Res. 2006;29:611-9 pubmed
    ..medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations...
  51. Sale M, Smith S, Mychaleckyj J, Keene K, Langefeld C, Leak T, et al. Variants of the transcription factor 7-like 2 (TCF7L2) gene are associated with type 2 diabetes in an African-American population enriched for nephropathy. Diabetes. 2007;56:2638-42 pubmed
    ..05; 0.03 < P(a) < 0.08), as well as with ATP-sensitive inwardly rectifying potassium channel subunit Kir6.2 (KCNJ11) and hepatocyte nuclear factor 4-alpha (HNF4A) SNPs (0.01 < P < 0.05; 0.01 < P(a) < 0.41)...
  52. Meigs J, Shrader P, Sullivan L, McAteer J, Fox C, Dupuis J, et al. Genotype score in addition to common risk factors for prediction of type 2 diabetes. N Engl J Med. 2008;359:2208-19 pubmed publisher
    ..A genotype score based on 18 risk alleles predicted new cases of diabetes in the community but provided only a slightly better prediction of risk than knowledge of common risk factors alone. ..
  53. Massa O, Iafusco D, D Amato E, Gloyn A, Hattersley A, Pasquino B, et al. KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum Mutat. 2005;25:22-7 pubmed
    ..Recently, heterozygous activating mutations of KCNJ11, encoding Kir6...
  54. Koo B, Cho Y, Park B, Cheong H, Shin H, Jang H, et al. Polymorphisms of KCNJ11 (Kir6.2 gene) are associated with Type 2 diabetes and hypertension in the Korean population. Diabet Med. 2007;24:178-86 pubmed
    Kir6.2 is found in the pancreatic B-cell, cardiac and skeletal muscle and non-vascular smooth muscle. KCNJ11, encoding Kir6...
  55. Palmer N, Langefeld C, Bryer Ash M, Rotter J, Taylor K, Bowden D. Association of the Kir6.2 E23K variant with reduced acute insulin response in African-Americans. J Clin Endocrinol Metab. 2008;93:4979-83 pubmed publisher
    ..2 and SUR1 are expressed in a broad range of tissues, and no contemporary studies have addressed the physiological impact of variants in Hispanic-Americans and African-Americans carefully phenotyped for components of glucose homeostasis...
  56. Hu C, Zhang R, Wang C, Wang J, Ma X, Lu J, et al. PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population. PLoS ONE. 2009;4:e7643 pubmed publisher
    ..We confirmed the effects of SNPs from PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 on risk for type 2 diabetes, with odds ratios ranging ..
  57. Wang F, Han X, Ren Q, Zhang X, Han L, Luo Y, et al. Effect of genetic variants in KCNJ11, ABCC8, PPARG and HNF4A loci on the susceptibility of type 2 diabetes in Chinese Han population. Chin Med J (Engl). 2009;122:2477-82 pubmed
    b>KCNJ11, ABCC8, PPARG, and HNF4A have been found to be associated with type 2 diabetes in populations with different genetic backgrounds...
  58. Nielsen E, Hansen L, Carstensen B, Echwald S, Drivsholm T, Glümer C, et al. The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes. Diabetes. 2003;52:573-7 pubmed
    The E23K polymorphism of the pancreatic beta-cell ATP-sensitive K(+) (K(ATP)) channel subunit Kir6.2 (KCNJ11) is associated with type 2 diabetes in whites, and a recent in vitro study of the E23K variant suggests that the association to ..
  59. Riedel M, Boora P, Steckley D, de Vries G, Light P. Kir6.2 polymorphisms sensitize beta-cell ATP-sensitive potassium channels to activation by acyl CoAs: a possible cellular mechanism for increased susceptibility to type 2 diabetes?. Diabetes. 2003;52:2630-5 pubmed
  60. Laukkanen O, Pihlajamaki J, Lindström J, Eriksson J, Valle T, Hämäläinen H, et al. Polymorphisms of the SUR1 (ABCC8) and Kir6.2 (KCNJ11) genes predict the conversion from impaired glucose tolerance to type 2 diabetes. The Finnish Diabetes Prevention Study. J Clin Endocrinol Metab. 2004;89:6286-90 pubmed
    ..2 gene...
  61. Cheung C, Tso A, Cheung B, Xu A, Fong C, Ong K, et al. The KCNJ11 E23K polymorphism and progression of glycaemia in Southern Chinese: a long-term prospective study. PLoS ONE. 2011;6:e28598 pubmed publisher
    The KCNJ11 E23K variant is associated with type 2 diabetes mellitus (T2DM) in cross-sectional studies, but conflicting findings have been reported from prospective studies...
  62. Weedon M, McCarthy M, Hitman G, Walker M, Groves C, Zeggini E, et al. Combining information from common type 2 diabetes risk polymorphisms improves disease prediction. PLoS Med. 2006;3:e374 pubmed
    ..Three common variants (Lys23 of KCNJ11, Pro12 of PPARG, and the T allele at rs7903146 of TCF7L2) have been shown to predispose to type 2 diabetes ..
  63. Alsmadi O, Al Rubeaan K, Wakil S, Imtiaz F, Mohamed G, Al Saud H, et al. Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes. Diabetes Metab Res Rev. 2008;24:137-40 pubmed
    The E23K variant of KCNJ11 has been associated with type 2 diabetes (T2D) in several but not all populations studied. Thus far, despite a high incidence of T2D, the role of this variant in Arabs has not been established...
  64. Tschritter O, Stumvoll M, Machicao F, Holzwarth M, Weisser M, Maerker E, et al. The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.2) gene is associated with impaired glucagon suppression in response to hyperglycemia. Diabetes. 2002;51:2854-60 pubmed
    ..Our findings thus confirm its functional relevance for glucose metabolism in humans. ..
  65. Florez J, Burtt N, de Bakker P, Almgren P, Tuomi T, Holmkvist J, et al. Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes. 2004;53:1360-8 pubmed
    ..2; encoded by KCNJ11) are adjacent to one another on human chromosome 11...
  66. D Amato E, Tammaro P, Craig T, Tosi A, Giorgetti R, Lorini R, et al. Variable phenotypic spectrum of diabetes mellitus in a family carrying a novel KCNJ11 gene mutation. Diabet Med. 2008;25:651-6 pubmed publisher
    Heterozygous activating mutations in KCNJ11, which encodes the Kir6.2 subunit of the pancreatic ATP-sensitive potassium (K(ATP)) channel, cause both permanent and transient neonatal diabetes...
  67. Shimomura K, Girard C, Proks P, Nazim J, Lippiat J, Cerutti F, et al. Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. Diabetes. 2006;55:1705-12 pubmed
    Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensitive K(+) channel (K(ATP) channel), are a common cause of neonatal diabetes...
  68. Bronstein M, Pisanté A, Yakir B, Darvasi A. Type 2 diabetes susceptibility loci in the Ashkenazi Jewish population. Hum Genet. 2008;124:101-4 pubmed publisher
    ..Our study, however, strongly supports the robustness of WGA studies for the identification of genes affecting complex traits in general and T2D in particular. ..
  69. Jeron A, Hengstenberg C, Holmer S, Wollnik B, Riegger G, Schunkert H, et al. KCNJ11 polymorphisms and sudden cardiac death in patients with acute myocardial infarction. J Mol Cell Cardiol. 2004;36:287-93 pubmed
    ..The cardiac ATP-dependent potassium channel (K(ATP)) current is generated by ion channels encoded by the KCNJ11 gene and the SUR2a gene...
  70. Henwood M, Kelly A, Macmullen C, Bhatia P, Ganguly A, Thornton P, et al. Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. J Clin Endocrinol Metab. 2005;90:789-94 pubmed
    ..These results indicate that some K(ATP) mutations can yield partially functioning channels, including cases of hyperinsulinism that are fully responsive to diazoxide therapy...
  71. Gloyn A, Diatloff Zito C, Edghill E, Bellanne Chantelot C, Nivot S, Coutant R, et al. KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Eur J Hum Genet. 2006;14:824-30 pubmed
    Heterozygous activating mutations in the gene encoding for the ATP-sensitive potassium channel subunit Kir6.2 (KCNJ11) have recently been shown to be a common cause of permanent neonatal diabetes. Kir6...
  72. Yokoi N, Kanamori M, Horikawa Y, Takeda J, Sanke T, Furuta H, et al. Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects. Diabetes. 2006;55:2379-86 pubmed
    ..2 (KCNJ11) and SUR1 (ABCC8) with type 2 diabetes in a Japanese cohort of 2,834 subjects...
  73. Cornelis M, Qi L, Zhang C, Kraft P, Manson J, Cai T, et al. Joint effects of common genetic variants on the risk for type 2 diabetes in U.S. men and women of European ancestry. Ann Intern Med. 2009;150:541-50 pubmed
    ..National Institutes of Health. ..
  74. Loechner K, Akrouh A, Kurata H, Dionisi Vici C, Maiorana A, Pizzoferro M, et al. Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management. Diabetes. 2011;60:209-17 pubmed publisher
    ..Homozygous individuals may be managed medically, without pancreatectomy. Heterozygous carriers also show evidence of enhanced glucose sensitivity, consistent with incomplete loss of K(ATP) channel activity. ..
  75. Gloyn A, Pearson E, Antcliff J, Proks P, Bruining G, Slingerland A, et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med. 2004;350:1838-49 pubmed
    ..2 subunit of this channel (KCNJ11) cause neonatal diabetes. We sequenced the KCNJ11 gene in 29 patients with permanent neonatal diabetes...
  76. Fischer A, Fisher E, Mohlig M, Schulze M, Hoffmann K, Weickert M, et al. KCNJ11 E23K affects diabetes risk and is associated with the disposition index: results of two independent German cohorts. Diabetes Care. 2008;31:87-9 pubmed
  77. Lango H, Palmer C, Morris A, Zeggini E, Hattersley A, McCarthy M, et al. Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. Diabetes. 2008;57:3129-35 pubmed publisher
    ..Further studies are needed to assess whether individuals with extreme numbers of risk alleles may benefit from genetic testing. ..
  78. Wen J, Rönn T, Olsson A, Yang Z, Lu B, Du Y, et al. Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort. PLoS ONE. 2010;5:e9153 pubmed publisher
  79. Takeuchi M, Okamoto K, Takagi T, Ishii H. Ethnic difference in patients with type 2 diabetes mellitus in inter-East Asian populations: a systematic review and meta-analysis focusing on gene polymorphism. J Diabetes. 2009;1:255-62 pubmed publisher
    ..2 (KCNJ11), Calpain 10 (CAPN10), and transcription factor 7-like 2 (TCF7L2)...
  80. Sakura H, Wat N, Horton V, Millns H, Turner R, Ashcroft F. 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. Diabetologia. 1996;39:1233-6 pubmed
    ..We therefore conclude that mutations in Kir6.2 are unlikely to be a major cause of NIDDM. ..
  81. Lyssenko V, Jonsson A, Almgren P, Pulizzi N, Isomaa B, Tuomi T, et al. Clinical risk factors, DNA variants, and the development of type 2 diabetes. N Engl J Med. 2008;359:2220-32 pubmed publisher
    ..Variants in 11 genes (TCF7L2, PPARG, FTO, KCNJ11, NOTCH2, WFS1, CDKAL1, IGF2BP2, SLC30A8, JAZF1, and HHEX) were significantly associated with the risk of type 2 ..
  82. Winkler M, Lutz R, Russ U, Quast U, Bryan J. Analysis of two KCNJ11 neonatal diabetes mutations, V59G and V59A, and the analogous KCNJ8 I60G substitution: differences between the channel subtypes formed with SUR1. J Biol Chem. 2009;284:6752-62 pubmed publisher
    beta-Cell-type K(ATP) channels are octamers assembled from Kir6.2/KCNJ11 and SUR1/ABCC8. Adenine nucleotides play a major role in their regulation. Nucleotide binding to Kir6...
  83. Sandal T, Laborie L, Brusgaard K, Eide S, Christesen H, Søvik O, et al. The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. Clin Genet. 2009;75:440-8 pubmed
    ..2, which are encoded by the genes ABCC8 and KCNJ11, respectively...
  84. Stancakova A, Kuulasmaa T, Paananen J, Jackson A, Bonnycastle L, Collins F, et al. Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men. Diabetes. 2009;58:2129-36 pubmed publisher
    ..Oral glucose tolerance tests and genotyping of SNPs in or near PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, LOC387761, CDKN2B, IGF2BP2, CDKAL1, HNF1B, WFS1, JAZF1, CDC123, TSPAN8, THADA, ADAMTS9, ..
  85. Abdelhamid I, Lasram K, Meiloud G, Ben Halim N, Kefi R, Samb A, et al. E23K variant in KCNJ11 gene is associated with susceptibility to type 2 diabetes in the Mauritanian population. Prim Care Diabetes. 2014;8:171-5 pubmed publisher
    Many genetic association studies reported the contribution of KCNJ11 gene to type 2 diabetes susceptibility in different populations...
  86. Proks P, Antcliff J, Lippiat J, Gloyn A, Hattersley A, Ashcroft F. Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. Proc Natl Acad Sci U S A. 2004;101:17539-44 pubmed
    ..Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensitive (K(ATP)) channel, cause permanent neonatal diabetes mellitus (PNDM)..
  87. Gloyn A, Siddiqui J, Ellard S. Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat. 2006;27:220-31 pubmed
    ..It has been known for some time that loss of function mutations in KCNJ11, which encodes for Kir6...
  88. Liu Z, Zhang Y, Feng Q, Li Y, Wu G, Zuo J, et al. [Association analysis of 30 type 2 diabetes candidate genes in Chinese Han population]. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2006;28:124-8 pubmed
    ..The case-control studies showed that several SNPs on KCNJ11 gene was associated with type 2 diabetes in Chinese Han population, in which the allele frequency of SNP rs5219, ..
  89. Pinney S, Macmullen C, Becker S, Lin Y, Hanna C, Thornton P, et al. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J Clin Invest. 2008;118:2877-86 pubmed publisher
    ..Though most disease-causing mutations of the 2 genes encoding KATP subunits, ABCC8 (SUR1) and KCNJ11 (Kir6.2), are recessively inherited, some cases of dominantly inherited inactivating mutations have been reported...
  90. Takeuchi F, Serizawa M, Yamamoto K, Fujisawa T, Nakashima E, Ohnaka K, et al. Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population. Diabetes. 2009;58:1690-9 pubmed publisher
    ..significant associations were replicated in five other candidate loci: TCF7L2, IGF2BP2, SLC30A8, HHEX, and KCNJ11. There was substantial overlap of type 2 diabetes susceptibility genes between the two populations, whereas effect ..