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Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000525 Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $549.00 14

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RefSeq Version NM_000525.3, 62388887
Length 3418 bp
Structure linear
Update Date 17-FEB-2013
Organism Homo sapiens (human)
Definition Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA.
Product ATP-sensitive inward rectifier potassium channel 11 isoform 1
Comment

Summary: Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009].


Transcript Variant: This variant (1) encodes the longer protein (isoform 1).


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The extent of this transcript is supported by transcript alignments.

RefSeq NP_000516.3
CDS 569..1741
Misc Feature(1)348
Misc Feature(2)500..502
Misc Feature(3)674..1639
Misc Feature(4)674..1639
Misc Feature(5)773..847
Misc Feature(6)956..973
Misc Feature(7)1001..1066
Misc Feature(8)1046..1048
Exon (1)1..3412
Gene:KCNJ11
Gene Synonym:BIR; HHF2; IKATP; KIR6.2; PHHI; TNDM3
Translation MLSRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVF TTLVDLKWPHTLLIFTMSFLCSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSA FLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCIFMKTAQAHRRAET LIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPM ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQA RTSYLADEILWGQRFVPIVAEEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDHSLLEALT LASARGPLRKRSVPMAKAKPKFSISPDSLS
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Position Chain Variation Link
complement(62)-dbSNP:
complement(62)-, adbSNP:35980606
complement(66..67)-, tdbSNP:35513985
complement(144)-g, cdbSNP:5221
complement(434)-t, cdbSNP:5220
complement(573)-t, cdbSNP:193922565
complement(604)-c, adbSNP:104894236
complement(605)-t, cdbSNP:139079635
complement(621)-g, cdbSNP:41309072
complement(622)-g, adbSNP:193922564
complement(635)-t, cdbSNP:5219
complement(669)-t, cdbSNP:141145502
complement(671)-t, g, cdbSNP:193929333
complement(672)-g, adbSNP:41314517
complement(676)-t, cdbSNP:112070496
complement(692)-t, cdbSNP:80356610
complement(717)-g, c, adbSNP:80356611
complement(723)-g, adbSNP:193929337
complement(725)-g, c, adbSNP:80356613
complement(726)-g, adbSNP:80356615
complement(743)-g, adbSNP:80356616
complement(744)-t, gdbSNP:80356617
complement(758)-c, adbSNP:115716690
complement(847)-g, adbSNP:142577961
complement(848)-t, cdbSNP:138065534
complement(876)-c, adbSNP:200932525
complement(878)-g, cdbSNP:145429555
complement(922)-t, cdbSNP:140636367
complement(1008)-t, cdbSNP:28936678
complement(1030)-g, adbSNP:145757832
complement(1039)-g, adbSNP:116045724
complement(1065)-t, g, adbSNP:80356618
complement(1067)-c, adbSNP:80356620
complement(1077)-g, adbSNP:80356621
complement(1078)-g, cdbSNP:80356622
complement(1094)-g, adbSNP:201264306
complement(1112)-g, adbSNP:193929348
complement(1135)-g, adbSNP:114899765
complement(1136)-t, g, cdbSNP:77131926
complement(1138)-g, adbSNP:5218
complement(1152)-t, cdbSNP:5217
complement(1169)-t, cdbSNP:80356625
complement(1170)-t, g, adbSNP:80356624
complement(1246)-t, cdbSNP:74162102
complement(1250)-t, cdbSNP:147937000
complement(1294)-t, cdbSNP:72554078
complement(1301)-c, adbSNP:199848733
complement(1323)-t, cdbSNP:193929352
complement(1329)-t, cdbSNP:104894237
complement(1344)-g, adbSNP:104894248
complement(1369)-g, cdbSNP:5216
complement(1376)-g, cdbSNP:1800467
complement(1387)-g, adbSNP:202238153
complement(1395)-t, gdbSNP:113498300
complement(1411)-g, adbSNP:116392938
1412+a, gdbSNP:267607196
complement(1420)-c, adbSNP:1800854
complement(1421)-t, cdbSNP:149667199
complement(1438)-g, cdbSNP:201379919
complement(1450)-t, cdbSNP:115585638
complement(1454)-g, c, adbSNP:193929353
complement(1470)-t, g, adbSNP:74339576
complement(1471)-g, adbSNP:200855007
complement(1502)-g, adbSNP:72554079
complement(1504)-g, adbSNP:139445409
complement(1509)-t, cdbSNP:145935651
complement(1532)-g, adbSNP:193929355
complement(1557)-g, adbSNP:193929356
complement(1565)-t, adbSNP:193929357
complement(1569)-g, adbSNP:193929358
complement(1577)-t, cdbSNP:5215
complement(1584)-c, adbSNP:138125678
complement(1602)-g, adbSNP:114215135
complement(1607)-g, adbSNP:146255794
complement(1649)-g, adbSNP:141237889
complement(1657)-t, cdbSNP:5214
complement(1663)-g, adbSNP:143276279
complement(1664)-t, cdbSNP:149141985
complement(1667)-g, adbSNP:138168190
complement(1670)-, gdbSNP:35043381
complement(1674)-t, cdbSNP:114613745
complement(1711)-g, adbSNP:8175351
complement(1718)-t, cdbSNP:141904039
complement(1720)-g, adbSNP:184094021
complement(1722)-g, cdbSNP:41282930
complement(1772)-t, cdbSNP:199834960
complement(1803)-t, cdbSNP:5213
complement(1817)-t, cdbSNP:193076739
complement(1833)-g, adbSNP:5212
complement(1849)-t, gdbSNP:139391954
complement(1902)-g, cdbSNP:77674298
complement(1913)-t, gdbSNP:5211
complement(1953)-t, cdbSNP:115811959
complement(1956)-g, adbSNP:5210
complement(2005)-t, cdbSNP:185542065
complement(2028)-g, adbSNP:113019623
complement(2029)-t, cdbSNP:5209
complement(2076)-g, adbSNP:118179872
complement(2117)-g, adbSNP:5208
complement(2175)-t, adbSNP:148712397
complement(2177)-, cdbSNP:35294169
complement(2182)-t, cdbSNP:2285676
complement(2228)-t, cdbSNP:79457490
complement(2270)-t, cdbSNP:115826080
complement(2330)-t, cdbSNP:185669328
complement(2427)-t, cdbSNP:147282653
complement(2438)-t, cdbSNP:117976105
complement(2442)-t, adbSNP:5207
complement(2507)-t, cdbSNP:193101892
complement(2589)-t, cdbSNP:5206
complement(2646)-t, cdbSNP:186637027
complement(2730)-g, adbSNP:5205
complement(2873)-g, cdbSNP:191697899
complement(2883)-, gdbSNP:35749958
complement(2909)-t, cdbSNP:182349583
complement(2922)-t, cdbSNP:76774792
complement(2923)-t, cdbSNP:74831871
complement(2938)-t, cdbSNP:191682072
Gene SymbolKCNJ11
Gene SynonymBIR; HHF2; IKATP; KIR6.2; PHHI; TNDM3
Chromosome11
Locus Map11p15.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000525 Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA. On-demand $549.00 14
NM_001166290 Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 2, mRNA. On-demand $449.00 14
Title Three cases of permanent neonatal diabetes mellitus: genotypes and management outcome .
Author Ooi,H.L. and Wu,L.L.
Journal Singapore Med J 53 (7), E142-E144 (2012)
Title Effects of single nucleotide polymorphisms in K(ATP) channel genes on type 2 diabetes in a Turkish population .
Author Gonen,M.S., Arikoglu,H., Erkoc Kaya,D., Ozdemir,H., Ipekci,S.H., Arslan,A., Kayis,S.A. and Gogebakan,B.
Journal Arch. Med. Res. 43 (4), 317-323 (2012)
Title Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas .
Author Dupont,J., Pereira,C., Medeira,A., Duarte,R., Ellard,S. and Sampaio,L.
Journal J. Pediatr. Endocrinol. Metab. 25 (3-4), 367-370 (2012)
Title Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene .
Author 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. and Froguel,P.
Journal PLoS ONE 7 (6), E37423 (2012)
Title Cloning of the promoters for the beta-cell ATP-sensitive K-channel subunits Kir6.2 and SUR1 .
Author Ashfield,R. and Ashcroft,S.J.
Journal Diabetes 47 (8), 1274-1280 (1998)
Title Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy .
Author Thomas,P., Ye,Y. and Lightner,E.
Journal Hum. Mol. Genet. 5 (11), 1809-1812 (1996)
Title 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 .
Author Sakura,H., Wat,N., Horton,V., Millns,H., Turner,R.C. and Ashcroft,F.M.
Journal Diabetologia 39 (10), 1233-1236 (1996)
Title Identification of microsatellite markers near the human genes encoding the beta-cell ATP-sensitive K+ channel and linkage studies with NIDDM in Japanese .
Author Iwasaki,N., Kawamura,M., Yamagata,K., Cox,N.J., Karibe,S., Ohgawara,H., Inagaki,N., Seino,S., Bell,G.I. and Omori,Y.
Journal Diabetes 45 (2), 267-269 (1996)
Title Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor .
Author Inagaki,N., Gonoi,T., Clement,J.P. IV, Namba,N., Inazawa,J., Gonzalez,G., Aguilar-Bryan,L., Seino,S. and Bryan,J.
Journal Science 270 (5239), 1166-1170 (1995)
Title Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy .
Author Thomas,P.M., Cote,G.J., Hallman,D.M. and Mathew,P.M.
Journal Am. J. Hum. Genet. 56 (2), 416-421 (1995)


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