Gene Review:
KCNJ11 - potassium channel, inwardly rectifying...
Homo sapiens
Synonyms:
ATP-sensitive inward rectifier potassium channel 11, BIR, HHF2, IKATP, Inward rectifier K(+) channel Kir6.2, ...
Naito,
O'Brien,
Tomiyama,
Jeron,
Shepherd,
Bitner-Glindzicz,
Suchi,
MacMullen,
Stanley,
Krippeit-Drews,
Smith,
Taguchi,
Nakaya,
Zadik,
Ekelund,
Ono,
Aguilar-Bryan,
Liu,
Cosgrove,
Rutland,
Muñoz,
Hoebee,
Farndon,
Kawano,
Kikuchi,
Suchi,
Wollnik,
Riegger,
Milla,
Ohkubo,
Aynsley-Green,
Thornton,
Ganguly,
Hussain,
Piston,
Furth-Lavi,
Thornton,
Kitahata,
Glaser,
Ruchelli,
Barnes,
Ganguly,
Feskens,
Adzick,
Seidell,
van Dam,
Holmer,
Nimri,
Ivarsson,
McDaniel,
Tsutsumi,
Fujinaga,
Malcolm,
Koster,
Drews,
Almgren,
Shaat,
Stanley,
Zünkler,
Zung,
Schaap,
Nagashima,
Groop,
Glaser,
Remedi,
Erdmann,
Suita,
Scanlan,
MacMullen,
de Bruin,
Rocheleau,
Berntorp,
Schunkert,
Patton,
Sowden,
Lernmark,
Hengstenberg,
Nichols,
Lindley,
Bryan,
Okamoto,
Tong,
Oshita,
Düfer,
Dunne,
Ruchelli,
Takahashi,
Tsumura,
Blaydon,
Zhang,
Kuroda,
- A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Bitner-Glindzicz, M., Lindley, K.J., Rutland, P., Blaydon, D., Smith, V.V., Milla, P.J., Hussain, K., Furth-Lavi, J., Cosgrove, K.E., Shepherd, R.M., Barnes, P.D., O'Brien, R.E., Farndon, P.A., Sowden, J., Liu, X.Z., Scanlan, M.J., Malcolm, S., Dunne, M.J., Aynsley-Green, A., Glaser, B. Nat. Genet. (2000)
- A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels. Lin, Y.W., MacMullen, C., Ganguly, A., Stanley, C.A., Shyng, S.L. J. Biol. Chem. (2006)
- Association of the E23K polymorphism in the KCNJ11 gene with gestational diabetes mellitus. Shaat, N., Ekelund, M., Lernmark, A., Ivarsson, S., Almgren, P., Berntorp, K., Groop, L. Diabetologia (2005)
- KCNJ11 polymorphisms and sudden cardiac death in patients with acute myocardial infarction. Jeron, A., Hengstenberg, C., Holmer, S., Wollnik, B., Riegger, G.A., Schunkert, H., Erdmann, J. J. Mol. Cell. Cardiol. (2004)
- ABCC8 and ABCC9: ABC transporters that regulate K(+) channels. Bryan, J., Muñoz, A., Zhang, X., Düfer, M., Drews, G., Krippeit-Drews, P., Aguilar-Bryan, L. Pflugers Arch. (2007)
- CATERPILLER: a novel gene family important in immunity, cell death, and diseases. Ting, J.P., Davis, B.K. Annu. Rev. Immunol. (2005)
- Toward understanding the assembly and structure of KATP channels. Aguilar-Bryan, L., Clement, J.P., Gonzalez, G., Kunjilwar, K., Babenko, A., Bryan, J. Physiol. Rev. (1998)
- Molecular physiology of cardiac potassium channels. Deal, K.K., England, S.K., Tamkun, M.M. Physiol. Rev. (1996)
- Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor. Tucker, S.J., Gribble, F.M., Zhao, C., Trapp, S., Ashcroft, F.M. Nature (1997)
- Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes. Liston, P., Roy, N., Tamai, K., Lefebvre, C., Baird, S., Cherton-Horvat, G., Farahani, R., McLean, M., Ikeda, J.E., MacKenzie, A., Korneluk, R.G. Nature (1996)
- Hyperinsulinism in mice with heterozygous loss of K(ATP) channels. Remedi, M.S., Rocheleau, J.V., Tong, A., Patton, B.L., McDaniel, M.L., Piston, D.W., Koster, J.C., Nichols, C.G. Diabetologia (2006)
- Towards selective Kir6.2/SUR1 potassium channel openers, medicinal chemistry and therapeutic perspectives. Hansen, J.B. Current medicinal chemistry. (2006)
- Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function. Marthinet, E., Bloc, A., Oka, Y., Tanizawa, Y., Wehrle-Haller, B., Bancila, V., Dubuis, J.M., Philippe, J., Schwitzgebel, V.M. J. Clin. Endocrinol. Metab. (2005)
- Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2. Zung, A., Glaser, B., Nimri, R., Zadik, Z. J. Clin. Endocrinol. Metab. (2004)
- Predominant Th1 cell infiltration in acute rejection episodes of human kidney grafts. D'Elios, M.M., Josien, R., Manghetti, M., Amedei, A., de Carli, M., Cuturi, M.C., Blancho, G., Buzelin, F., del Prete, G., Soulillou, J.P. Kidney Int. (1997)
- Relapsing diabetes can result from moderately activating mutations in KCNJ11. Gloyn, A.L., Reimann, F., Girard, C., Edghill, E.L., Proks, P., Pearson, E.R., Temple, I.K., Mackay, D.J., Shield, J.P., Freedenberg, D., Noyes, K., Ellard, S., Ashcroft, F.M., Gribble, F.M., Hattersley, A.T. Hum. Mol. Genet. (2005)
- Analysis of the type 2 diabetes-associated single nucleotide polymorphisms in the genes IRS1, KCNJ11, and PPARG2 in type 1 diabetes. Eftychi, C., Howson, J.M., Barratt, B.J., Vella, A., Payne, F., Smyth, D.J., Twells, R.C., Walker, N.M., Rance, H.E., Tuomilehto-Wolf, E., Tuomilehto, J., Undlien, D.E., Rønningen, K.S., Guja, C., Ionescu-Tîirgovişte, C., Savage, D.A., Todd, J.A. Diabetes (2004)
- Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. Tornovsky, S., Crane, A., Cosgrove, K.E., Hussain, K., Lavie, J., Heyman, M., Nesher, Y., Kuchinski, N., Ben-Shushan, E., Shatz, O., Nahari, E., Potikha, T., Zangen, D., Tenenbaum-Rakover, Y., de Vries, L., Argente, J., Gracia, R., Landau, H., Eliakim, A., Lindley, K., Dunne, M.J., Aguilar-Bryan, L., Glaser, B. J. Clin. Endocrinol. Metab. (2004)
- Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP. Proks, P., Girard, C., Ashcroft, F.M. Hum. Mol. Genet. (2005)
- Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. Suchi, M., MacMullen, C.M., Thornton, P.S., Adzick, N.S., Ganguly, A., Ruchelli, E.D., Stanley, C.A. Mod. Pathol. (2006)
- Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations. Suchi, M., MacMullen, C., Thornton, P.S., Ganguly, A., Stanley, C.A., Ruchelli, E.D. Pediatr. Dev. Pathol. (2003)
- Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. Inagaki, N., Gonoi, T., Clement, J.P., Namba, N., Inazawa, J., Gonzalez, G., Aguilar-Bryan, L., Seino, S., Bryan, J. Science (1995)
- Sulfonylurea receptor 1 and Kir6.2 expression in the novel human insulin-secreting cell line NES2Y. Macfarlane, W.M., O'Brien, R.E., Barnes, P.D., Shepherd, R.M., Cosgrove, K.E., Lindley, K.J., Aynsley-Green, A., James, R.F., Docherty, K., Dunne, M.J. Diabetes (2000)
- Common variants in the ATP-sensitive K+ channel genes KCNJ11 (Kir6.2) and ABCC8 (SUR1) in relation to glucose intolerance: population-based studies and meta-analyses. van Dam, R.M., Hoebee, B., Seidell, J.C., Schaap, M.M., de Bruin, T.W., Feskens, E.J. Diabet. Med. (2005)
- Stoichiometry of sulfonylurea-induced ATP-sensitive potassium channel closure. Dörschner, H., Brekardin, E., Uhde, I., Schwanstecher, C., Schwanstecher, M. Mol. Pharmacol. (1999)
- Human ether-a-go-go-related (HERG) gene and ATP-sensitive potassium channels as targets for adverse drug effects. Zünkler, B.J. Pharmacol. Ther. (2006)
- Molecular mechanisms of the inhibitory effects of propofol and thiamylal on sarcolemmal adenosine triphosphate-sensitive potassium channels. Kawano, T., Oshita, S., Takahashi, A., Tsutsumi, Y., Tomiyama, Y., Kitahata, H., Kuroda, Y., Nakaya, Y. Anesthesiology (2004)
- Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. Stanik, J., Gasperikova, D., Paskova, M., Barak, L., Javorkova, J., Jancova, E., Ciljakova, M., Hlava, P., Michalek, J., Flanagan, S.E., Pearson, E., Hattersley, A.T., Ellard, S., Klimes, I. J. Clin. Endocrinol. Metab. (2007)
- Four novel splice variants of sulfonylurea receptor 1. Hambrock, A., Preisig-Müller, R., Russ, U., Piehl, A., Hanley, P.J., Ray, J., Daut, J., Quast, U., Derst, C. Am. J. Physiol., Cell Physiol. (2002)
- K ATP channels of primary human coronary artery endothelial cells consist of a heteromultimeric complex of Kir6.1, Kir6.2, and SUR2B subunits. Yoshida, H., Feig, J.E., Morrissey, A., Ghiu, I.A., Artman, M., Coetzee, W.A. J. Mol. Cell. Cardiol. (2004)
- PKA-mediated phosphorylation of the human K(ATP) channel: separate roles of Kir6.2 and SUR1 subunit phosphorylation. Béguin, P., Nagashima, K., Nishimura, M., Gonoi, T., Seino, S. EMBO J. (1999)
- Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor. Magge, S.N., Shyng, S.L., MacMullen, C., Steinkrauss, L., Ganguly, A., Katz, L.E., Stanley, C.A. J. Clin. Endocrinol. Metab. (2004)
- Analysis of separate and combined effects of common variation in KCNJ11 and PPARG on risk of type 2 diabetes. Hansen, S.K., Nielsen, E.M., Ek, J., Andersen, G., Glümer, C., Carstensen, B., Mouritzen, P., Drivsholm, T., Borch-Johnsen, K., Jørgensen, T., Hansen, T., Pedersen, O. J. Clin. Endocrinol. Metab. (2005)
- Molecular basis and characteristics of KATP channel in human corporal smooth muscle cells. Insuk, S.O., Chae, M.R., Choi, J.W., Yang, D.K., Sim, J.H., Lee, S.W. Int. J. Impot. Res. (2003)
- KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Massa, O., Iafusco, D., D'Amato, E., Gloyn, A.L., Hattersley, A.T., Pasquino, B., Tonini, G., Dammacco, F., Zanette, G., Meschi, F., Porzio, O., Bottazzo, G., Crinó, A., Lorini, R., Cerutti, F., Vanelli, M., Barbetti, F. Hum. Mutat. (2005)
- Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects. Yokoi, N., Kanamori, M., Horikawa, Y., Takeda, J., Sanke, T., Furuta, H., Nanjo, K., Mori, H., Kasuga, M., Hara, K., Kadowaki, T., Tanizawa, Y., Oka, Y., Iwami, Y., Ohgawara, H., Yamada, Y., Seino, Y., Yano, H., Cox, N.J., Seino, S. Diabetes (2006)
- Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Gloyn, A.L., Weedon, M.N., Owen, K.R., Turner, M.J., Knight, B.A., Hitman, G., Walker, M., Levy, J.C., Sampson, M., Halford, S., McCarthy, M.I., Hattersley, A.T., Frayling, T.M. Diabetes (2003)
- Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy. Ohkubo, K., Nagashima, M., Naito, Y., Taguchi, T., Suita, S., Okamoto, N., Fujinaga, H., Tsumura, K., Kikuchi, K., Ono, J. Clin. Endocrinol. (Oxf) (2005)