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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu19078 Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu19078C Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA. Customized vector On-demand $269.00 7-9

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000525.3, 62388887
Length 1173 bp
Structure linear
Update Date 03-MAY-2014
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
Misc Feature(9)1589..1591
Misc Feature(10)1721..1723
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(55)-dbSNP:
complement(55)-, adbSNP:397808534
62..63+, tdbSNP:35513985
complement(62)-, adbSNP:35980606
complement(144)-g, cdbSNP:5221
complement(341)-t, cdbSNP:372087336
complement(434)-t, cdbSNP:5220
435+g, tdbSNP:387906398
complement(549)-g, adbSNP:376226744
573+c, tdbSNP:193922565
complement(595)-g, adbSNP:374134161
604+a, cdbSNP:104894236
complement(605)-t, cdbSNP:139079635
621+c, gdbSNP:41309072
622+a, gdbSNP:193922564
complement(635)-t, cdbSNP:386597997
complement(669)-t, cdbSNP:141145502
671+c, g, tdbSNP:193929333
complement(672)-g, adbSNP:41314517
complement(676)-t, cdbSNP:112070496
692+c, tdbSNP:80356610
717+a, c, gdbSNP:80356611
723+a, gdbSNP:193929337
725+a, c, gdbSNP:80356613
726+a, gdbSNP:80356615
complement(728)-g, adbSNP:375848765
743+a, gdbSNP:80356616
744+g, tdbSNP:80356617
747+a, tdbSNP:387906783
complement(758)-c, adbSNP:115716690
complement(773)-t, gdbSNP:372565142
complement(847)-g, adbSNP:142577961
complement(848)-t, cdbSNP:138065534
complement(859)-t, gdbSNP:371886780
complement(876)-c, adbSNP:200932525
complement(877)-t, gdbSNP:376773562
complement(878)-t, cdbSNP:145429555
complement(912)-t, cdbSNP:374334444
complement(922)-t, cdbSNP:140636367
complement(979)-t, cdbSNP:371977895
1008+c, tdbSNP:28936678
complement(1030)-g, adbSNP:145757832
complement(1039)-g, adbSNP:116045724
1065+a, g, tdbSNP:80356618
1067+a, cdbSNP:80356620
1077+a, gdbSNP:80356621
1078+c, gdbSNP:80356622
complement(1094)-g, adbSNP:201264306
1112+a, gdbSNP:193929348
complement(1135)-g, adbSNP:114899765
complement(1136)-t, g, cdbSNP:77131926
complement(1138)-g, adbSNP:5218
complement(1146)-t, cdbSNP:373657240
complement(1152)-t, cdbSNP:5217
1169+c, tdbSNP:80356625
1170+a, g, tdbSNP:80356624
complement(1223)-c, adbSNP:371633969
1246+c, tdbSNP:74162102
complement(1250)-t, cdbSNP:147937000
complement(1288)-g, cdbSNP:368520582
1294+c, tdbSNP:72554078
complement(1301)-c, adbSNP:199848733
complement(1313)-t, cdbSNP:375200088
complement(1321)-g, cdbSNP:370638485
1323+c, tdbSNP:193929352
1329+c, tdbSNP:104894237
1344+a, gdbSNP:104894248
complement(1366)-t, cdbSNP:376027906
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
1420+a, c, tdbSNP:1800854
complement(1421)-t, cdbSNP:149667199
complement(1438)-g, cdbSNP:201379919
complement(1450)-t, cdbSNP:115585638
1454+a, c, gdbSNP:193929353
complement(1469)-g, adbSNP:377091338
1470+a, g, tdbSNP:74339576
complement(1471)-g, adbSNP:200855007
complement(1480)-g, adbSNP:372471215
complement(1486)-g, adbSNP:377040874
complement(1495)-t, gdbSNP:372180195
1502+a, gdbSNP:72554079
complement(1504)-g, adbSNP:139445409
complement(1509)-t, cdbSNP:145935651
complement(1520)-t, cdbSNP:369179692
1532+a, gdbSNP:193929355
1557+a, gdbSNP:193929356
1565+a, tdbSNP:193929357
1569+a, gdbSNP:193929358
complement(1577)-t, cdbSNP:5215
complement(1584)-c, adbSNP:138125678
complement(1602)-g, adbSNP:114215135
complement(1607)-g, adbSNP:146255794
complement(1656)-g, adbSNP:375859605
complement(1657)-t, cdbSNP:5214
complement(1663)-g, adbSNP:143276279
complement(1664)-t, cdbSNP:149141985
complement(1667)-, gdbSNP:35043381
complement(1667)-g, adbSNP:138168190
complement(1673)-t, gdbSNP:371275937
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(1755)-t, cdbSNP:375713439
complement(1769)-g, adbSNP:372394648
complement(1770)-t, cdbSNP:370047076
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(2078)-t, cdbSNP:372737066
complement(2117)-g, adbSNP:5208
2175+a, tdbSNP:148712397
complement(2177)-, cdbSNP:35294169
2182+c, tdbSNP:2285676
complement(2197)-g, adbSNP:369186082
complement(2228)-t, cdbSNP:79457490
complement(2269)-g, adbSNP:377292224
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(2568)-g, adbSNP:372655579
complement(2589)-t, cdbSNP:5206
complement(2611)-t, cdbSNP:372136553
complement(2646)-t, cdbSNP:186637027
complement(2730)-g, adbSNP:5205
2873+c, gdbSNP:191697899
complement(2879)-, 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
Title Phosphatidylinositol 4,5-biphosphate (PIP2) modulates interaction of syntaxin-1A with sulfonylurea receptor 1 to regulate pancreatic beta-cell ATP-sensitive potassium channels .
Author Liang T, Xie L, Chao C, Kang Y, Lin X, Qin T, Xie H, Feng ZP and Gaisano HY.
Journal J. Biol. Chem. 289 (9), 6028-6040 (2014)
Title Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression .
Author Lin YW, Li A, Grasso V, Battaglia D, Crino A, Colombo C, Barbetti F and Nichols CG.
Journal PLoS ONE 8 (5), E63758 (2013)
Title Meta-analysis of association of common variants in the KCNJ11-ABCC8 region with type 2 diabetes .
Author Qin LJ, Lv Y and Huang QY.
Journal Genet. Mol. Res. 12 (3), 2990-3002 (2013)
Title Cloning of the promoters for the beta-cell ATP-sensitive K-channel subunits Kir6.2 and SUR1 .
Author Ashfield R and Ashcroft SJ.
Journal Diabetes 47 (8), 1274-1280 (1998)
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 RC and Ashcroft FM.
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 NJ, Karibe S, Ohgawara H, Inagaki N, Seino S, Bell GI 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 JP 4th, 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 PM, Cote GJ, Hallman DM and Mathew PM.
Journal Am. J. Hum. Genet. 56 (2), 416-421 (1995)
Title Permanent Neonatal Diabetes Mellitus .
Author De Leon,D.D. and Stanley,C.A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Familial Hyperinsulinism .
Author Glaser,B.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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