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ATP-sensitive inward rectifier potassium channel 11 (IKATP) (Inward rectifier K( ) channel Kir6.2) (Potassium channel, inwardly rectifying subfamily J member 11)

 KCJ11_HUMAN             Reviewed;         390 AA.
Q14654; B4DWI4; E9PNK0; Q2M1H7; Q58EX3; Q8IW96;
01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
27-SEP-2005, sequence version 2.
25-OCT-2017, entry version 188.
RecName: Full=ATP-sensitive inward rectifier potassium channel 11;
AltName: Full=IKATP;
AltName: Full=Inward rectifier K(+) channel Kir6.2;
AltName: Full=Potassium channel, inwardly rectifying subfamily J member 11;
Name=KCNJ11;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT SER-148.
TISSUE=Placenta;
PubMed=7502040; DOI=10.1126/science.270.5239.1166;
Inagaki N., Gonoi T., Clement J.P. IV, Namba N., Inazawa J.,
Gonzalez G., Aguilar-Bryan L., Seino S., Bryan J.;
"Reconstitution of IKATP: an inward rectifier subunit plus the
sulfonylurea receptor.";
Science 270:1166-1170(1995).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Mammary gland;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS LYS-23 AND
VAL-337.
PubMed=16554811; DOI=10.1038/nature04632;
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F.,
Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E.,
FitzGerald M.G., Jaffe D.B., LaButti K., Nicol R., Park H.-S.,
Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W.,
Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S.,
Sakaki Y.;
"Human chromosome 11 DNA sequence and analysis including novel gene
identification.";
Nature 440:497-500(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
TISSUE=Ovary, and Spleen;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
FUNCTION, AND INTERACTION WITH ABCC9.
PubMed=9831708; DOI=10.1161/01.RES.83.11.1132;
Babenko A.P., Gonzalez G., Aguilar-Bryan L., Bryan J.;
"Reconstituted human cardiac KATP channels: functional identity with
the native channels from the sarcolemma of human ventricular cells.";
Circ. Res. 83:1132-1143(1998).
[6]
MOLECULAR BASIS OF ATP SENSITIVITY.
PubMed=12524280; DOI=10.1016/S0006-3495(03)74847-4;
Ribalet B., John S.A., Weiss J.N.;
"Molecular basis for Kir6.2 channel inhibition by adenine
nucleotides.";
Biophys. J. 84:266-276(2003).
[7]
INVOLVEMENT IN PNDM, VARIANT PNDM LEU-167, AND CHARACTERIZATION OF
VARIANT PNDM LEU-167.
PubMed=17652641; DOI=10.1212/01.wnl.0000268488.51776.53;
Shimomura K., Horster F., de Wet H., Flanagan S.E., Ellard S.,
Hattersley A.T., Wolf N.I., Ashcroft F., Ebinger F.;
"A novel mutation causing DEND syndrome: a treatable channelopathy of
pancreas and brain.";
Neurology 69:1342-1349(2007).
[8]
INVOLVEMENT IN HHF2, AND VARIANTS HHF2 LEU-55; ARG-156 AND GLU-204.
PubMed=18596924; DOI=10.1172/JCI35414;
Pinney S.E., MacMullen C., Becker S., Lin Y.W., Hanna C., Thornton P.,
Ganguly A., Shyng S.L., Stanley C.A.;
"Clinical characteristics and biochemical mechanisms of congenital
hyperinsulinism associated with dominant KATP channel mutations.";
J. Clin. Invest. 118:2877-2886(2008).
[9]
INVOLVEMENT IN HHF2, VARIANT HHF2 LYS-282, AND CHARACTERIZATION OF
VARIANT HHF2 LYS-282.
PubMed=19357197; DOI=10.1093/hmg/ddp179;
Taneja T.K., Mankouri J., Karnik R., Kannan S., Smith A.J., Munsey T.,
Christesen H.B., Beech D.J., Sivaprasadarao A.;
"Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation
causing congenital hyperinsulinism.";
Hum. Mol. Genet. 18:2400-2413(2009).
[10]
INVOLVEMENT IN PNDM, VARIANTS PNDM TYR-60 AND LEU-64, AND
CHARACTERIZATION OF VARIANTS PNDM TYR-60 AND LEU-64.
PubMed=20022885; DOI=10.1093/hmg/ddp554;
Maennikkoe R., Jefferies C., Flanagan S.E., Hattersley A., Ellard S.,
Ashcroft F.M.;
"Interaction between mutations in the slide helix of Kir6.2 associated
with neonatal diabetes and neurological symptoms.";
Hum. Mol. Genet. 19:963-972(2010).
[11]
REVIEW ON VARIANTS.
PubMed=10338089;
DOI=10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO;2-R;
Meissner T., Beinbrech B., Mayatepek E.;
"Congenital hyperinsulinism: molecular basis of a heterogeneous
disease.";
Hum. Mutat. 13:351-361(1999).
[12]
FUNCTION, CHARACTERIZATION OF VARIANT PNDM ILE-333, AND INTERACTION
WITH ABCC9.
PubMed=17855752; DOI=10.1113/jphysiol.2007.143149;
Tammaro P., Ashcroft F.M.;
"A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP
channel alters coupling with the SUR2A subunit.";
J. Physiol. (Lond.) 584:743-753(2007).
[13]
PHOSPHORYLATION AT THR-341 AND SER-385.
PubMed=18280666; DOI=10.1016/j.neuroscience.2008.01.003;
Lin Y.F., Chai Y.;
"Functional modulation of the ATP-sensitive potassium channel by
extracellular signal-regulated kinase-mediated phosphorylation.";
Neuroscience 152:371-380(2008).
[14]
INVOLVEMENT IN MODY13, AND VARIANT MODY13 LYS-227.
PubMed=22701567; DOI=10.1371/journal.pone.0037423;
Bonnefond A., Philippe J., Durand E., Dechaume A., Huyvaert M.,
Montagne L., Marre M., Balkau B., Fajardy I., Vambergue A., Vatin V.,
Delplanque J., Le Guilcher D., De Graeve F., Lecoeur C., Sand O.,
Vaxillaire M., Froguel P.;
"Whole-exome sequencing and high throughput genotyping identified
KCNJ11 as the thirteenth MODY gene.";
PLoS ONE 7:E37423-E37423(2012).
[15]
VARIANT HHF2 PRO-147.
PubMed=7847376;
Thomas P.M., Cote G.J., Hallman D.M., Mathew P.M.;
"Homozygosity mapping, to chromosome 11p, of the gene for familial
persistent hyperinsulinemic hypoglycemia of infancy.";
Am. J. Hum. Genet. 56:416-421(1995).
[16]
VARIANT HHF2 PRO-147.
PubMed=8923010; DOI=10.1093/hmg/5.11.1809;
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. 5:1809-1812(1996).
[17]
VARIANTS NIDDM PRO-355 AND LYS-PRO-380 INS, AND VARIANTS LYS-23;
VAL-270; VAL-337 AND CYS-385.
PubMed=8897013; DOI=10.1007/BF02658512;
Sakura H., Wat N., Horton V., Millns H., Turner R.C., Ashcroft F.M.;
"Sequence variations in the human Kir6.2 gene, a subunit of the beta-
cell ATP-sensitive K-channel: no association with NIDDM in white
Caucasian subjects or evidence of abnormal function when expressed in
vitro.";
Diabetologia 39:1233-1236(1996).
[18]
VARIANTS LYS-10; LYS-23; VAL-270 AND VAL-337.
PubMed=9032109; DOI=10.2337/diab.46.3.502;
Inoue H., Ferrer J., Warren-Perry M., Zhang Y., Millns H.,
Turner R.C., Elbein S.C., Hampe C.L., Suarez B.K., Inagaki N.,
Seino S., Permutt M.A.;
"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 46:502-507(1997).
[19]
VARIANT HHF2 ARG-91.
PubMed=10204114; DOI=10.1210/edrv.20.2.0361;
Aguilar-Bryan L., Bryan J.;
"Molecular biology of adenosine triphosphate-sensitive potassium
channels.";
Endocr. Rev. 20:101-135(1999).
[20]
VARIANTS LYS-23 AND VAL-337.
PubMed=10391210; DOI=10.1038/10297;
Halushka M.K., Fan J.-B., Bentley K., Hsie L., Shen N., Weder A.,
Cooper R., Lipshutz R., Chakravarti A.;
"Patterns of single-nucleotide polymorphisms in candidate genes for
blood-pressure homeostasis.";
Nat. Genet. 22:239-247(1999).
[21]
VARIANT HHF2 ASN-67.
PubMed=12364426; DOI=10.1210/jc.2002-020378;
Huopio H., Jaeaeskelaeinen J., Komulainen J., Miettinen R.,
Kaerkkaeinen P., Laakso M., Tapanainen P., Voutilainen R.,
Otonkoski T.;
"Acute insulin response tests for the differential diagnosis of
congenital hyperinsulinism.";
J. Clin. Endocrinol. Metab. 87:4502-4507(2002).
[22]
VARIANTS PNDM VAL-35; MET-59; HIS-201; CYS-330 AND ILE-333.
PubMed=15448106; DOI=10.2337/diabetes.53.10.2713;
Sagen J.V., Raeder H., Hathout E., Shehadeh N., Gudmundsson K.,
Baevre H., Abuelo D., Phornphutkul C., Molnes J., Bell G.I.,
Gloyn A.L., Hattersley A.T., Molven A., Soevik O., Njoelstad P.R.;
"Permanent neonatal diabetes due to mutations in KCNJ11 encoding
Kir6.2: patient characteristics and initial response to sulfonylurea
therapy.";
Diabetes 53:2713-2718(2004).
[23]
VARIANTS PNDM LEU-35; MET-59; CYS-201; HIS-201; LYS-322 AND CYS-330.
PubMed=15448107; DOI=10.2337/diabetes.53.10.2719;
Vaxillaire M., Populaire C., Busiah K., Cave H., Gloyn A.L.,
Hattersley A.T., Czernichow P., Froguel P., Polak M.;
"Kir6.2 mutations are a common cause of permanent neonatal diabetes in
a large cohort of French patients.";
Diabetes 53:2719-2722(2004).
[24]
VARIANT PNDM CYS-201.
PubMed=15292329; DOI=10.1210/jc.2004-0568;
Gloyn A.L., Cummings E.A., Edghill E.L., Harries L.W., Scott R.,
Costa T., Temple I.K., Hattersley A.T., Ellard S.;
"Permanent neonatal diabetes due to paternal germline mosaicism for an
activating mutation of the KCNJ11 gene encoding the Kir6.2 subunit of
the beta-cell potassium adenosine triphosphate channel.";
J. Clin. Endocrinol. Metab. 89:3932-3935(2004).
[25]
VARIANT HHF2 LEU-254, AND CHARACTERIZATION OF VARIANT HHF2 LEU-254.
PubMed=15579781; DOI=10.1210/jc.2004-1233;
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.;
"Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and
evidence for additional locus heterogeneity.";
J. Clin. Endocrinol. Metab. 89:6224-6234(2004).
[26]
VARIANTS PNDM ARG-52; GLY-59; MET-59; HIS-201; CYS-201 AND LEU-296,
AND CHARACTERIZATION OF VARIANT PNDM HIS-201.
PubMed=15115830; DOI=10.1056/NEJMoa032922;
Gloyn A.L., Pearson E.R., Antcliff J.F., Proks P., Bruining G.J.,
Slingerland A.S., Howard N., Srinivasan S., Silva J.M.C.L., Molnes J.,
Edghill E.L., Frayling T.M., Temple I.K., Mackay D., Shield J.P.H.,
Sumnik Z., van Rhijn A., Wales J.K.H., Clark P., Gorman S.,
Aisenberg J., Ellard S., Njoelstad P.R., Ashcroft F.M.,
Hattersley A.T.;
"Activating mutations in the gene encoding the ATP-sensitive
potassium-channel subunit Kir6.2 and permanent neonatal diabetes.";
N. Engl. J. Med. 350:1838-1849(2004).
[27]
ERRATUM.
Gloyn A.L., Pearson E.R., Antcliff J.F., Proks P., Bruining G.J.,
Slingerland A.S., Howard N., Srinivasan S., Silva J.M.C.L., Molnes J.,
Edghill E.L., Frayling T.M., Temple I.K., Mackay D., Shield J.P.H.,
Sumnik Z., van Rhijn A., Wales J.K.H., Clark P., Gorman S.,
Aisenberg J., Ellard S., Njoelstad P.R., Ashcroft F.M.,
Hattersley A.T.;
N. Engl. J. Med. 351:1470-1470(2004).
[28]
CHARACTERIZATION OF VARIANTS PNDM ARG-52; GLY-59 AND CYS-201.
PubMed=15583126; DOI=10.1073/pnas.0404756101;
Proks P., Antcliff J.F., Lippiat J., Gloyn A.L., Hattersley A.T.,
Ashcroft F.M.;
"Molecular basis of Kir6.2 mutations associated with neonatal diabetes
or neonatal diabetes plus neurological features.";
Proc. Natl. Acad. Sci. U.S.A. 101:17539-17544(2004).
[29]
VARIANT HHF2 HIS-34, AND VARIANTS LYS-23; SER-148 AND VAL-337.
PubMed=15807877; DOI=10.1111/j.1365-2265.2005.02242.x;
Ohkubo K., Nagashima M., Naito Y., Taguchi T., Suita S., Okamoto N.,
Fujinaga H., Tsumura K., Kikuchi K., Ono J.;
"Genotypes of the pancreatic beta-cell K-ATP channel and clinical
phenotypes of Japanese patients with persistent hyperinsulinaemic
hypoglycaemia of infancy.";
Clin. Endocrinol. (Oxf.) 62:458-465(2005).
[30]
VARIANTS TNDM3 SER-53; ARG-53 AND VAL-182, AND CHARACTERIZATION OF
VARIANTS TNDM3 SER-53; ARG-53 AND VAL-182.
PubMed=15718250; DOI=10.1093/hmg/ddi086;
Gloyn A.L., Reimann F., Girard C., Edghill E.L., Proks P.,
Pearson E.R., Temple I.K., Mackay D.J.G., Shield J.P.H.,
Freedenberg D., Noyes K., Ellard S., Ashcroft F.M., Gribble F.M.,
Hattersley A.T.;
"Relapsing diabetes can result from moderately activating mutations in
KCNJ11.";
Hum. Mol. Genet. 14:925-934(2005).
[31]
VARIANTS PNDM PRO-50; MET-59; ARG-170; ASN-170 AND CYS-201.
PubMed=15580558; DOI=10.1002/humu.20124;
The early onset diabetes study group of the Italian society of pediatric endocrinology and 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., Crino A., Lorini R., Cerutti F., Vanelli M., Barbetti F.;
"KCNJ11 activating mutations in Italian patients with permanent
neonatal diabetes.";
Hum. Mutat. 25:22-27(2005).
[32]
VARIANTS HHF2 ASP-101; ALA-134; LEU-136; LEU-266 AND HIS-301.
PubMed=15562009; DOI=10.1210/jc.2004-1604;
Henwood M.J., Kelly A., MacMullen C., Bhatia P., Ganguly A.,
Thornton P.S., Stanley C.A.;
"Genotype-phenotype correlations in children with congenital
hyperinsulinism due to recessive mutations of the adenosine
triphosphate-sensitive potassium channel genes.";
J. Clin. Endocrinol. Metab. 90:789-794(2005).
[33]
VARIANT TNDM3 ARG-42, AND CHARACTERIZATION OF VARIANT TNDM3 ARG-42.
PubMed=15784703; DOI=10.1210/jc.2005-0096;
Yorifuji T., Nagashima K., Kurokawa K., Kawai M., Oishi M.,
Akazawa Y., Hosokawa M., Yamada Y., Inagaki N., Nakahata T.;
"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. 90:3174-3178(2005).
[34]
VARIANT HHF2 ARG-259, AND CHARACTERIZATION OF VARIANT HHF2 ARG-259.
PubMed=15998776; DOI=10.1210/jc.2005-0202;
Marthinet E., Bloc A., Oka Y., Tanizawa Y., Wehrle-Haller B.,
Bancila V., Dubuis J.-M., Philippe J., Schwitzgebel V.M.;
"Severe congenital hyperinsulinism caused by a mutation in the Kir6.2
subunit of the adenosine triphosphate-sensitive potassium channel
impairing trafficking and function.";
J. Clin. Endocrinol. Metab. 90:5401-5406(2005).
[35]
VARIANTS PNDM GLN-50 AND PRO-50, AND CHARACTERIZATION OF VARIANTS PNDM
GLN-50 AND PRO-50.
PubMed=16731833; DOI=10.2337/db05-1640;
Shimomura K., Girard C.A.J., Proks P., Nazim J., Lippiat J.D.,
Cerutti F., Lorini R., Ellard S., Hattersely A.T., Barbetti F.,
Ashcroft F.M.;
"Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause
neonatal diabetes produce different functional effects.";
Diabetes 55:1705-1712(2006).
[36]
VARIANTS PNDM TYR-46; GLN-50; ARG-52; ASP-53; GLY-59; MET-59; PRO-164;
TYR-166; THR-170; CYS-201; HIS-201; LEU-201; LEU-296 AND SER-330.
PubMed=16609879; DOI=10.1007/s00125-006-0246-z;
Flanagan S.E., Edghill E.L., Gloyn A.L., Ellard S., Hattersley A.T.;
"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 49:1190-1197(2006).
[37]
VARIANTS LYS-23 AND VAL-337.
PubMed=16429405; DOI=10.1002/humu.9401;
Fernandez-Marmiesse A., Salas A., Vega A., Fernandez-Lorenzo J.R.,
Barreiro J., Carracedo A.;
"Mutation spectra of ABCC8 gene in Spanish patients with
Hyperinsulinism of Infancy (HI).";
Hum. Mutat. 27:214-214(2006).
[38]
VARIANT HHF2 LEU-55, AND CHARACTERIZATION OF VARIANT HHF2 LEU-55.
PubMed=16332676; DOI=10.1074/jbc.M511875200;
Lin Y.-W., MacMullen C., Ganguly A., Stanley C.A., Shyng S.-L.;
"A novel KCNJ11 mutation associated with congenital hyperinsulinism
reduces the intrinsic open probability of beta-cell ATP-sensitive
potassium channels.";
J. Biol. Chem. 281:3006-3012(2006).
[39]
VARIANTS HHF2 ASP-40; ASP-101; PRO-116; LEU-136 AND HIS-301.
PubMed=16357843; DOI=10.1038/modpathol.3800497;
Suchi M., MacMullen C.M., Thornton P.S., Adzick N.S., Ganguly A.,
Ruchelli E.D., Stanley C.A.;
"Molecular and immunohistochemical analyses of the focal form of
congenital hyperinsulinism.";
Mod. Pathol. 19:122-129(2006).
[40]
VARIANTS PNDM TYR-46; PRO-164 AND HIS-201.
PubMed=17213273; DOI=10.1210/jc.2006-2490;
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.;
"Prevalence of permanent neonatal diabetes in Slovakia and successful
replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8
mutation carriers.";
J. Clin. Endocrinol. Metab. 92:1276-1282(2007).
-!- FUNCTION: This receptor is controlled by G proteins. Inward
rectifier potassium channels are characterized by a greater
tendency to allow potassium to flow into the cell rather than out
of it. Their voltage dependence is regulated by the concentration
of extracellular potassium; as external potassium is raised, the
voltage range of the channel opening shifts to more positive
voltages. The inward rectification is mainly due to the blockage
of outward current by internal magnesium. Can be blocked by
extracellular barium (By similarity). Subunit of ATP-sensitive
potassium channels (KATP). Can form cardiac and smooth muscle-type
KATP channels with ABCC9. KCNJ11 forms the channel pore while
ABCC9 is required for activation and regulation. {ECO:0000250,
ECO:0000269|PubMed:17855752, ECO:0000269|PubMed:9831708}.
-!- SUBUNIT: Interacts with ABCC8/SUR. Interacts with ABCC9/SUR2.
{ECO:0000269|PubMed:17855752, ECO:0000269|PubMed:9831708}.
-!- INTERACTION:
Q09428-1:ABCC8; NbExp=2; IntAct=EBI-2866553, EBI-15807650;
Q01484:ANK2; NbExp=6; IntAct=EBI-2866553, EBI-941975;
-!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q14654-1; Sequence=Displayed;
Name=2;
IsoId=Q14654-2; Sequence=VSP_045270;
-!- PTM: Phosphorylation by MAPK1 results in changes in channel gating
that destabilize the closed states and reduce the ATP sensitivity.
{ECO:0000269|PubMed:18280666}.
-!- DISEASE: Familial hyperinsulinemic hypoglycemia 2 (HHF2)
[MIM:601820]: Most common cause of persistent hypoglycemia in
infancy. Unless early and aggressive intervention is undertaken,
brain damage from recurrent episodes of hypoglycemia may occur.
{ECO:0000269|PubMed:10204114, ECO:0000269|PubMed:12364426,
ECO:0000269|PubMed:15562009, ECO:0000269|PubMed:15579781,
ECO:0000269|PubMed:15807877, ECO:0000269|PubMed:15998776,
ECO:0000269|PubMed:16332676, ECO:0000269|PubMed:16357843,
ECO:0000269|PubMed:18596924, ECO:0000269|PubMed:19357197,
ECO:0000269|PubMed:7847376, ECO:0000269|PubMed:8923010}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: Diabetes mellitus, permanent neonatal (PNDM)
[MIM:606176]: A rare form of diabetes distinct from childhood-
onset autoimmune diabetes mellitus type 1. It is characterized by
insulin-requiring hyperglycemia that is diagnosed within the first
months of life. Permanent neonatal diabetes requires lifelong
therapy. {ECO:0000269|PubMed:15115830,
ECO:0000269|PubMed:15292329, ECO:0000269|PubMed:15448106,
ECO:0000269|PubMed:15448107, ECO:0000269|PubMed:15580558,
ECO:0000269|PubMed:15583126, ECO:0000269|PubMed:16609879,
ECO:0000269|PubMed:16731833, ECO:0000269|PubMed:17213273,
ECO:0000269|PubMed:17652641, ECO:0000269|PubMed:17855752,
ECO:0000269|PubMed:20022885}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Transient neonatal diabetes mellitus 3 (TNDM3)
[MIM:610582]: Neonatal diabetes mellitus, defined as insulin-
requiring hyperglycemia within the first month of life, is a rare
entity. In about half of the neonates, diabetes is transient and
resolves at a median age of 3 months, whereas the rest have a
permanent form of diabetes. In a significant number of patients
with transient neonatal diabetes mellitus, diabetes type 2 appears
later in life. The onset and severity of TNDM3 is variable with
childhood-onset diabetes, gestational diabetes or adult-onset
diabetes described. {ECO:0000269|PubMed:15718250,
ECO:0000269|PubMed:15784703}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Note=Defects in KCNJ11 may contribute to non-insulin-
dependent diabetes mellitus (NIDDM), also known as diabetes
mellitus type 2.
-!- DISEASE: Maturity-onset diabetes of the young 13 (MODY13)
[MIM:616329]: A form of diabetes that is characterized by an
autosomal dominant mode of inheritance, onset in childhood or
early adulthood (usually before 25 years of age), a primary defect
in insulin secretion and frequent insulin-independence at the
beginning of the disease. {ECO:0000269|PubMed:22701567}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- SIMILARITY: Belongs to the inward rectifier-type potassium channel
(TC 1.A.2.1) family. KCNJ11 subfamily. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAH40617.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; D50582; BAA09131.1; -; Genomic_DNA.
EMBL; AK301550; BAG63046.1; -; mRNA.
EMBL; AC124798; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC064497; AAH64497.1; -; mRNA.
EMBL; BC040617; AAH40617.1; ALT_INIT; mRNA.
EMBL; BC112358; AAI12359.1; -; mRNA.
CCDS; CCDS31436.1; -. [Q14654-1]
CCDS; CCDS53606.1; -. [Q14654-2]
PIR; A57616; A57616.
RefSeq; NP_001159762.1; NM_001166290.1.
UniGene; Hs.248141; -.
ProteinModelPortal; Q14654; -.
BioGrid; 109969; 12.
CORUM; Q14654; -.
DIP; DIP-58643N; -.
ELM; Q14654; -.
IntAct; Q14654; 6.
STRING; 9606.ENSP00000345708; -.
BindingDB; Q14654; -.
ChEMBL; CHEMBL1886; -.
DrugBank; DB01119; Diazoxide.
DrugBank; DB00222; Glimepiride.
DrugBank; DB01016; Glyburide.
DrugBank; DB00308; Ibutilide.
DrugBank; DB00922; Levosimendan.
DrugBank; DB01154; Thiamylal.
DrugBank; DB00839; Tolazamide.
DrugBank; DB00661; Verapamil.
DrugBank; DB01392; Yohimbine.
TCDB; 1.A.2.1.17; the inward rectifier k(+) channel (irk-c) family.
iPTMnet; Q14654; -.
PhosphoSitePlus; Q14654; -.
BioMuta; KCNJ11; -.
DMDM; 76803775; -.
PaxDb; Q14654; -.
PeptideAtlas; Q14654; -.
PRIDE; Q14654; -.
Ensembl; ENST00000339994; ENSP00000345708; ENSG00000187486.
Ensembl; ENST00000528731; ENSP00000434755; ENSG00000187486.
GeneID; 3767; -.
KEGG; hsa:3767; -.
UCSC; uc001mna.4; human. [Q14654-1]
CTD; 3767; -.
DisGeNET; 3767; -.
EuPathDB; HostDB:ENSG00000187486.5; -.
GeneCards; KCNJ11; -.
GeneReviews; KCNJ11; -.
H-InvDB; HIX0035982; -.
HGNC; HGNC:6257; KCNJ11.
HPA; HPA048891; -.
MalaCards; KCNJ11; -.
MIM; 600937; gene.
MIM; 601820; phenotype.
MIM; 606176; phenotype.
MIM; 610582; phenotype.
MIM; 616329; phenotype.
neXtProt; NX_Q14654; -.
Orphanet; 276580; Autosomal dominant hyperinsulinism due to Kir6.2 deficiency.
Orphanet; 79644; Autosomal recessive hyperinsulinism due to Kir6.2 deficiency.
Orphanet; 79134; DEND syndrome.
Orphanet; 276603; Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency.
Orphanet; 99989; Intermediate DEND syndrome.
Orphanet; 552; MODY.
Orphanet; 99885; Permanent neonatal diabetes mellitus.
Orphanet; 99886; Transient neonatal diabetes mellitus.
PharmGKB; PA217; -.
eggNOG; KOG3827; Eukaryota.
eggNOG; ENOG410XQ62; LUCA.
HOGENOM; HOG000237325; -.
HOVERGEN; HBG006178; -.
InParanoid; Q14654; -.
KO; K05004; -.
OrthoDB; EOG091G08HC; -.
PhylomeDB; Q14654; -.
TreeFam; TF313676; -.
Reactome; R-HSA-1296025; ATP sensitive Potassium channels.
Reactome; R-HSA-382556; ABC-family proteins mediated transport.
Reactome; R-HSA-422356; Regulation of insulin secretion.
Reactome; R-HSA-5578775; Ion homeostasis.
Reactome; R-HSA-5683177; Defective ABCC8 can cause hypoglycemias and hyperglycemias.
SignaLink; Q14654; -.
SIGNOR; Q14654; -.
GeneWiki; Kir6.2; -.
GenomeRNAi; 3767; -.
PRO; PR:Q14654; -.
Proteomes; UP000005640; Chromosome 11.
Bgee; ENSG00000187486; -.
CleanEx; HS_KCNJ11; -.
ExpressionAtlas; Q14654; baseline and differential.
Genevisible; Q14654; HS.
GO; GO:0001669; C:acrosomal vesicle; IEA:Ensembl.
GO; GO:0008282; C:ATP-sensitive potassium channel complex; IDA:BHF-UCL.
GO; GO:0030673; C:axolemma; IEA:Ensembl.
GO; GO:0070852; C:cell body fiber; IEA:Ensembl.
GO; GO:0005829; C:cytosol; IEA:Ensembl.
GO; GO:0005783; C:endoplasmic reticulum; IEA:Ensembl.
GO; GO:0005768; C:endosome; IEA:Ensembl.
GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
GO; GO:0014704; C:intercalated disc; IEA:Ensembl.
GO; GO:0005739; C:mitochondrion; IEA:Ensembl.
GO; GO:0043209; C:myelin sheath; IEA:Ensembl.
GO; GO:0043025; C:neuronal cell body; IEA:Ensembl.
GO; GO:0005635; C:nuclear envelope; IEA:Ensembl.
GO; GO:0005886; C:plasma membrane; IDA:BHF-UCL.
GO; GO:0030315; C:T-tubule; ISS:BHF-UCL.
GO; GO:0008076; C:voltage-gated potassium channel complex; IDA:BHF-UCL.
GO; GO:0030506; F:ankyrin binding; IPI:BHF-UCL.
GO; GO:0005524; F:ATP binding; ISS:BHF-UCL.
GO; GO:0015272; F:ATP-activated inward rectifier potassium channel activity; ISS:BHF-UCL.
GO; GO:0031072; F:heat shock protein binding; IEA:Ensembl.
GO; GO:0044325; F:ion channel binding; IPI:BHF-UCL.
GO; GO:0030955; F:potassium ion binding; TAS:BHF-UCL.
GO; GO:0008022; F:protein C-terminus binding; IEA:Ensembl.
GO; GO:0005249; F:voltage-gated potassium channel activity; IDA:BHF-UCL.
GO; GO:0071333; P:cellular response to glucose stimulus; IEA:Ensembl.
GO; GO:0071316; P:cellular response to nicotine; IEA:Ensembl.
GO; GO:0071356; P:cellular response to tumor necrosis factor; IEA:Ensembl.
GO; GO:0006006; P:glucose metabolic process; IMP:BHF-UCL.
GO; GO:0046676; P:negative regulation of insulin secretion; IMP:BHF-UCL.
GO; GO:0050877; P:nervous system process; IMP:BHF-UCL.
GO; GO:2001259; P:positive regulation of cation channel activity; IEA:Ensembl.
GO; GO:1903078; P:positive regulation of protein localization to plasma membrane; IEA:Ensembl.
GO; GO:0010107; P:potassium ion import; ISS:BHF-UCL.
GO; GO:0071805; P:potassium ion transmembrane transport; IDA:BHF-UCL.
GO; GO:1903779; P:regulation of cardiac conduction; TAS:Reactome.
GO; GO:0050796; P:regulation of insulin secretion; IMP:BHF-UCL.
GO; GO:0042391; P:regulation of membrane potential; IDA:BHF-UCL.
GO; GO:0033198; P:response to ATP; IDA:BHF-UCL.
GO; GO:0042493; P:response to drug; IMP:BHF-UCL.
GO; GO:0032355; P:response to estradiol; IEA:Ensembl.
GO; GO:0002931; P:response to ischemia; IEA:Ensembl.
GO; GO:0033574; P:response to testosterone; IEA:Ensembl.
GO; GO:0055085; P:transmembrane transport; TAS:Reactome.
Gene3D; 2.60.40.1400; -; 1.
InterPro; IPR014756; Ig_E-set.
InterPro; IPR016449; K_chnl_inward-rec_Kir.
InterPro; IPR003279; K_chnl_inward-rec_Kir6.2.
InterPro; IPR013518; K_chnl_inward-rec_Kir_cyto.
PANTHER; PTHR11767; PTHR11767; 1.
PANTHER; PTHR11767:SF44; PTHR11767:SF44; 1.
Pfam; PF01007; IRK; 1.
PIRSF; PIRSF005465; GIRK_kir; 1.
PRINTS; PR01332; KIR62CHANNEL.
PRINTS; PR01320; KIRCHANNEL.
SUPFAM; SSF81296; SSF81296; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Diabetes mellitus;
Disease mutation; Ion channel; Ion transport; Membrane;
Phosphoprotein; Polymorphism; Potassium; Potassium transport;
Reference proteome; Transmembrane; Transmembrane helix; Transport;
Voltage-gated channel.
CHAIN 1 390 ATP-sensitive inward rectifier potassium
channel 11.
/FTId=PRO_0000154957.
TOPO_DOM 1 68 Cytoplasmic. {ECO:0000250}.
TRANSMEM 69 93 Helical; Name=M1. {ECO:0000250}.
TOPO_DOM 94 116 Extracellular. {ECO:0000250}.
INTRAMEM 117 128 Helical; Pore-forming; Name=H5.
{ECO:0000250}.
INTRAMEM 129 135 Pore-forming. {ECO:0000250}.
TOPO_DOM 136 144 Extracellular. {ECO:0000250}.
TRANSMEM 145 166 Helical; Name=M2. {ECO:0000250}.
TOPO_DOM 167 390 Cytoplasmic. {ECO:0000250}.
MOTIF 130 135 Selectivity filter. {ECO:0000250}.
SITE 160 160 Role in the control of polyamine-mediated
channel gating and in the blocking by
intracellular magnesium. {ECO:0000250}.
MOD_RES 341 341 Phosphothreonine; by MAPK1.
{ECO:0000269|PubMed:18280666}.
MOD_RES 385 385 Phosphoserine; by MAPK1.
{ECO:0000269|PubMed:18280666}.
VAR_SEQ 1 87 Missing (in isoform 2).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_045270.
VARIANT 10 10 E -> K (rare polymorphism).
{ECO:0000269|PubMed:9032109}.
/FTId=VAR_008659.
VARIANT 18 18 A -> G (in dbSNP:rs41309072).
/FTId=VAR_055978.
VARIANT 23 23 E -> K (linked to V-337; dbSNP:rs5219).
{ECO:0000269|PubMed:10391210,
ECO:0000269|PubMed:15807877,
ECO:0000269|PubMed:16429405,
ECO:0000269|PubMed:16554811,
ECO:0000269|PubMed:8897013,
ECO:0000269|PubMed:9032109}.
/FTId=VAR_008660.
VARIANT 34 34 R -> H (in HHF2).
{ECO:0000269|PubMed:15807877}.
/FTId=VAR_031329.
VARIANT 35 35 F -> L (in PNDM).
{ECO:0000269|PubMed:15448107}.
/FTId=VAR_026498.
VARIANT 35 35 F -> V (in PNDM).
{ECO:0000269|PubMed:15448106}.
/FTId=VAR_026499.
VARIANT 40 40 G -> D (in HHF2).
{ECO:0000269|PubMed:16357843}.
/FTId=VAR_031330.
VARIANT 42 42 C -> R (in TNDM3; increased spontaneous
open probability; reduced ATP
sensitivity; reduced expression at the
cell surface of the functional ATP-
sensitive form).
{ECO:0000269|PubMed:15784703}.
/FTId=VAR_031331.
VARIANT 46 46 H -> Y (in PNDM; one patient with mild
dysmorphic features).
{ECO:0000269|PubMed:16609879,
ECO:0000269|PubMed:17213273}.
/FTId=VAR_031332.
VARIANT 50 50 R -> P (in PNDM; decreased inhibition by
ATP; enhanced activation by Mg(2+);
increased current; one patient with
developmental delay).
{ECO:0000269|PubMed:15580558,
ECO:0000269|PubMed:16731833}.
/FTId=VAR_026500.
VARIANT 50 50 R -> Q (in PNDM; decreased inhibition by
ATP; enhanced activation by Mg(2+);
increased current).
{ECO:0000269|PubMed:16609879,
ECO:0000269|PubMed:16731833}.
/FTId=VAR_031333.
VARIANT 52 52 Q -> R (in PNDM; with developmental delay
and epilepsy; produces larger current and
more change in ATP sensitivity than
mutation associated with mild disease C-
201). {ECO:0000269|PubMed:15115830,
ECO:0000269|PubMed:15583126,
ECO:0000269|PubMed:16609879}.
/FTId=VAR_026501.
VARIANT 53 53 G -> D (in PNDM; with developmental delay
and epilepsy).
{ECO:0000269|PubMed:16609879}.
/FTId=VAR_031334.
VARIANT 53 53 G -> R (in TNDM3; also found in a family
member with PNDM; reduction in the
sensitivity to ATP when compared with
wild-type).
{ECO:0000269|PubMed:15718250}.
/FTId=VAR_026502.
VARIANT 53 53 G -> S (in TNDM3; also found in a family
member with PNDM; reduction in the
sensitivity to ATP when compared with
wild-type).
{ECO:0000269|PubMed:15718250}.
/FTId=VAR_026503.
VARIANT 55 55 F -> L (in HHF2; does neither affect
channel expression nor channel response
to MgADP). {ECO:0000269|PubMed:16332676,
ECO:0000269|PubMed:18596924}.
/FTId=VAR_031335.
VARIANT 59 59 V -> G (in PNDM; with developmental delay
and epilepsy; with neurologic features;
produces larger current and more change
in ATP sensitivity than mutation
associated with mild disease C-201;
decreases ATP sensitivity indirectly by
favoring the open conformation of the
channel). {ECO:0000269|PubMed:15115830,
ECO:0000269|PubMed:15583126,
ECO:0000269|PubMed:16609879}.
/FTId=VAR_026504.
VARIANT 59 59 V -> M (in PNDM; four patients with
developmental delay and muscle weakness).
{ECO:0000269|PubMed:15115830,
ECO:0000269|PubMed:15448106,
ECO:0000269|PubMed:15448107,
ECO:0000269|PubMed:15580558,
ECO:0000269|PubMed:16609879}.
/FTId=VAR_026505.
VARIANT 60 60 F -> Y (in PNDM; present on the same
allele as L-64; increases the intrinsic
channel open probability).
{ECO:0000269|PubMed:20022885}.
/FTId=VAR_073681.
VARIANT 64 64 V -> L (in PNDM; present on the same
allele as Y-60; enhances the ability of
MgATP to stimulate channel activity).
{ECO:0000269|PubMed:20022885}.
/FTId=VAR_073682.
VARIANT 67 67 K -> N (in HHF2).
{ECO:0000269|PubMed:12364426}.
/FTId=VAR_026506.
VARIANT 91 91 W -> R (in HHF2).
{ECO:0000269|PubMed:10204114}.
/FTId=VAR_026507.
VARIANT 101 101 A -> D (in HHF2).
{ECO:0000269|PubMed:15562009,
ECO:0000269|PubMed:16357843}.
/FTId=VAR_031336.
VARIANT 116 116 S -> P (in HHF2).
{ECO:0000269|PubMed:16357843}.
/FTId=VAR_031337.
VARIANT 134 134 G -> A (in HHF2).
{ECO:0000269|PubMed:15562009}.
/FTId=VAR_031338.
VARIANT 136 136 R -> L (in HHF2).
{ECO:0000269|PubMed:15562009,
ECO:0000269|PubMed:16357843}.
/FTId=VAR_031339.
VARIANT 147 147 L -> P (in HHF2; dbSNP:rs28936678).
{ECO:0000269|PubMed:7847376,
ECO:0000269|PubMed:8923010}.
/FTId=VAR_001557.
VARIANT 148 148 I -> S. {ECO:0000269|PubMed:15807877,
ECO:0000269|PubMed:7502040}.
/FTId=VAR_031340.
VARIANT 156 156 G -> R (in HHF2).
{ECO:0000269|PubMed:18596924}.
/FTId=VAR_073683.
VARIANT 164 164 L -> P (in PNDM).
{ECO:0000269|PubMed:16609879,
ECO:0000269|PubMed:17213273}.
/FTId=VAR_031341.
VARIANT 166 166 C -> Y (in PNDM; individual also
diagnosed with West syndrome).
{ECO:0000269|PubMed:16609879}.
/FTId=VAR_031342.
VARIANT 167 167 I -> L (in PNDM; has severely impaired
sensitivity to ATP and markedly increases
open channel probability).
{ECO:0000269|PubMed:17652641}.
/FTId=VAR_073684.
VARIANT 170 170 K -> N (in PNDM).
{ECO:0000269|PubMed:15580558}.
/FTId=VAR_026508.
VARIANT 170 170 K -> R (in PNDM).
{ECO:0000269|PubMed:15580558}.
/FTId=VAR_026509.
VARIANT 170 170 K -> T (in PNDM).
{ECO:0000269|PubMed:16609879}.
/FTId=VAR_031343.
VARIANT 182 182 I -> V (in TNDM3; reduction in the
sensitivity to ATP when compared with
wild-type).
{ECO:0000269|PubMed:15718250}.
/FTId=VAR_026510.
VARIANT 195 195 R -> H (in dbSNP:rs5217).
/FTId=VAR_014929.
VARIANT 201 201 R -> C (in PNDM; two individuals with
developmental delay; produces smaller
current and less change in ATP
sensitivity than mutations associated
with severe disease R-52 and G-59).
{ECO:0000269|PubMed:15115830,
ECO:0000269|PubMed:15292329,
ECO:0000269|PubMed:15448107,
ECO:0000269|PubMed:15580558,
ECO:0000269|PubMed:15583126,
ECO:0000269|PubMed:16609879}.
/FTId=VAR_026511.
VARIANT 201 201 R -> H (in PNDM; ability of ATP to block
mutant channels greatly reduced).
{ECO:0000269|PubMed:15115830,
ECO:0000269|PubMed:15448106,
ECO:0000269|PubMed:15448107,
ECO:0000269|PubMed:16609879,
ECO:0000269|PubMed:17213273}.
/FTId=VAR_026512.
VARIANT 201 201 R -> L (in PNDM).
{ECO:0000269|PubMed:16609879}.
/FTId=VAR_031344.
VARIANT 204 204 D -> E (in HHF2).
{ECO:0000269|PubMed:18596924}.
/FTId=VAR_073685.
VARIANT 227 227 E -> K (in MODY13).
{ECO:0000269|PubMed:22701567}.
/FTId=VAR_073686.
VARIANT 254 254 P -> L (in HHF2; impairs trafficking of
the mutant channel).
{ECO:0000269|PubMed:15579781}.
/FTId=VAR_026513.
VARIANT 259 259 H -> R (in HHF2; impairs trafficking and
abolishes channel function).
{ECO:0000269|PubMed:15998776}.
/FTId=VAR_031345.
VARIANT 266 266 P -> L (in HHF2).
{ECO:0000269|PubMed:15562009}.
/FTId=VAR_031346.
VARIANT 270 270 L -> V (in dbSNP:rs1800467).
{ECO:0000269|PubMed:8897013,
ECO:0000269|PubMed:9032109}.
/FTId=VAR_008661.
VARIANT 282 282 E -> K (in HHF2; prevents the ER export
and surface expression of the channel).
{ECO:0000269|PubMed:19357197}.
/FTId=VAR_073687.
VARIANT 296 296 I -> L (in PNDM; with developmental delay
and epilepsy).
{ECO:0000269|PubMed:15115830,
ECO:0000269|PubMed:16609879}.
/FTId=VAR_026514.
VARIANT 301 301 R -> H (in HHF2).
{ECO:0000269|PubMed:15562009,
ECO:0000269|PubMed:16357843}.
/FTId=VAR_031347.
VARIANT 322 322 E -> K (in PNDM).
{ECO:0000269|PubMed:15448107}.
/FTId=VAR_026515.
VARIANT 330 330 Y -> C (in PNDM).
{ECO:0000269|PubMed:15448106,
ECO:0000269|PubMed:15448107}.
/FTId=VAR_026516.
VARIANT 330 330 Y -> S (in PNDM).
{ECO:0000269|PubMed:16609879}.
/FTId=VAR_031348.
VARIANT 333 333 F -> I (in PNDM; alters gating
characteristics, decreases sensitivity to
inhibition by ATP and increases intrinsic
open probability).
{ECO:0000269|PubMed:15448106,
ECO:0000269|PubMed:17855752}.
/FTId=VAR_026517.
VARIANT 337 337 I -> V (linked to K-23; dbSNP:rs5215).
{ECO:0000269|PubMed:10391210,
ECO:0000269|PubMed:15807877,
ECO:0000269|PubMed:16429405,
ECO:0000269|PubMed:16554811,
ECO:0000269|PubMed:8897013,
ECO:0000269|PubMed:9032109}.
/FTId=VAR_008662.
VARIANT 355 355 L -> P (in NIDDM; Afro-Caribbean).
{ECO:0000269|PubMed:8897013}.
/FTId=VAR_008663.
VARIANT 380 380 P -> PKP (in NIDDM).
/FTId=VAR_008664.
VARIANT 385 385 S -> C (in dbSNP:rs41282930).
{ECO:0000269|PubMed:8897013}.
/FTId=VAR_008665.
CONFLICT 370 370 K -> E (in Ref. 2; BAG63046).
{ECO:0000305}.
SEQUENCE 390 AA; 43541 MW; 8345E7DBCE897344 CRC64;
MLSRKGIIPE EYVLTRLAED PAEPRYRARQ RRARFVSKKG NCNVAHKNIR EQGRFLQDVF
TTLVDLKWPH TLLIFTMSFL CSWLLFAMAW WLIAFAHGDL APSEGTAEPC VTSIHSFSSA
FLFSIEVQVT IGFGGRMVTE ECPLAILILI VQNIVGLMIN AIMLGCIFMK TAQAHRRAET
LIFSKHAVIA LRHGRLCFML RVGDLRKSMI ISATIHMQVV RKTTSPEGEV VPLHQVDIPM
ENGVGGNSIF LVAPLIIYHV IDANSPLYDL APSDLHHHQD LEIIVILEGV VETTGITTQA
RTSYLADEIL WGQRFVPIVA EEDGRYSVDY SKFGNTIKVP TPLCTARQLD EDHSLLEALT
LASARGPLRK RSVPMAKAKP KFSISPDSLS


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YHB0133Ra Rat ATP-sensitive inward rectifier potassium channel 11,KCNJ11-Kir6.2 ELISA Kit 96T
E1050Ra Rat ATP-sensitive inward rectifier potassium channel 8,KCNJ8-Kir6.1 ELISA Kit 96T
E1039Ra Rat ATP-sensitive inward rectifier potassium channel 11,KCNJ11 per Kir6.2 ELISA Kit 48T
YHB0137Ra Rat ATP-sensitive inward rectifier potassium channel 8,KCNJ8-Kir6.1 ELISA Kit 48T
E1050Ra Rat ATP-sensitive inward rectifier potassium channel 8,KCNJ8 per Kir6.1 ELISA Kit 96T
E1038Ra Rat ATP-sensitive inward rectifier potassium channel 11,KCNJ11-Kir6.2 ELISA Kit 48T
E1039Ra Rat ATP-sensitive inward rectifier potassium channel 11,KCNJ11 per Kir6.2 ELISA Kit 96T
YHB0133Ra Rat ATP-sensitive inward rectifier potassium channel 11,KCNJ11-Kir6.2 ELISA Kit 48T
E1039Ra Rat ATP-sensitive inward rectifier potassium channel 11,KCNJ11-Kir6.2 ELISA Kit 96T
E1050Ra Rat ATP-sensitive inward rectifier potassium channel 8,KCNJ8 per Kir6.1 ELISA Kit 48T
E0090Rb Rabbit ATP-sensitive inward rectifier potassium channel 11,KCNJ11 per Kir6.2 ELISA Kit 96T
E1795Hu Human ATP-sensitive inward rectifier potassium channel 11,KCNJ11-Kir6.2 ELISA Kit 48T
E1326Mo Mouse ATP-sensitive inward rectifier potassium channel 8,KCNJ8-Kir6.1 ELISA Kit 48T
YHB0427Hu Human ATP-sensitive inward rectifier potassium channel 11,KCNJ11-Kir6.2 ELISA Kit 96T
E1101Hu Human ATP-sensitive inward rectifier potassium channel 8,KCNJ8 per Kir6.1 ELISA Kit 48T
E1795Hu Human ATP-sensitive inward rectifier potassium channel 11,KCNJ11-Kir6.2 ELISA Kit 96T
E0090Rb Rabbit ATP-sensitive inward rectifier potassium channel 11,KCNJ11 per Kir6.2 ELISA Kit 48T
YHB0014Rb Rabbit ATP-sensitive inward rectifier potassium channel 11,KCNJ11-Kir6.2 ELISA Kit 48T
E1327Mo Mouse ATP-sensitive inward rectifier potassium channel 8,KCNJ8 per Kir6.1 ELISA Kit 48T
YHB0431Hu Human ATP-sensitive inward rectifier potassium channel 8,KCNJ8-Kir6.1 ELISA Kit 96T
E1101Hu Human ATP-sensitive inward rectifier potassium channel 8,KCNJ8 per Kir6.1 ELISA Kit 96T
E0089Rb Rabbit ATP-sensitive inward rectifier potassium channel 11,KCNJ11-Kir6.2 ELISA Kit 48T


 

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