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KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11 [Homo sapiens (human)]


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
NM_001166290 Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $449.00 14
XM_006718226 PREDICTED: Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $449.00 14

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Gene Symbol KCNJ11
Entrez Gene ID 3767
Full Name potassium inwardly-rectifying channel, subfamily J, member 11
Synonyms BIR, HHF2, IKATP, KIR6.2, PHHI, TNDM3
General protein information
Preferred Names
ATP-sensitive inward rectifier potassium channel 11
Names
ATP-sensitive inward rectifier potassium channel 11
beta-cell inward rectifier subunit
inward rectifier K(+) channel Kir6.2
inwardly rectifying potassium channel KIR6.2
potassium channel inwardly rectifing subfamily J member 11
potassium channel, inwardly rectifying subfamily J member 11
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11p15.1

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].
Disorder

MIM: 600937

Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3);

mRNA Protein Product Sequence Price Select
NM_000525, 62388887 NP_000516, 62388888 ATP-sensitive inward rectifier potassium channel 11 isoform 1 ORF Sequence $400.00
NM_001166290, 261399883 NP_001159762, 261399884 ATP-sensitive inward rectifier potassium channel 11 isoform 2 ORF Sequence $300.00
XM_006718226, 578820521 XP_006718289, 578820522 ATP-sensitive inward rectifier potassium channel 11 isoform X1 ORF Sequence $300.00
KEGG
hsa04930Type II diabetes mellitus
hsa04911Insulin secretion
WikiPathways
WP1584Type II diabetes mellitus
Pathway Interaction Database
hnf3bpathwayFOXA2 and FOXA3 transcription factor networks
Reactome
REACT_18325Regulation of insulin secretion
REACT_1505Integration of energy metabolism
REACT_13685Neuronal System
REACT_75775ATP sensitive Potassium channels
REACT_75908Potassium Channels
REACT_75918Inwardly rectifying K+ channels
REACT_111217Metabolism
Homo sapiens (human)KCNJ11NP_000516.3
Pan troglodytes (chimpanzee)KCNJ11XP_521849.2
Macaca mulatta (Rhesus monkey)KCNJ11XP_001089155.1
Canis lupus familiaris (dog)KCNJ11XP_542519.2
Bos taurus (cattle)KCNJ11NP_001075067.1
Mus musculus (house mouse)Kcnj11NP_034732.1
Rattus norvegicus (Norway rat)Kcnj11NP_112648.2
Gallus gallus (chicken)KCNJ11XP_426402.4
Danio rerio (zebrafish)kcnj11NP_001034916.1
Xenopus (Silurana) tropicalis (western clawed frog)LOC100492679XP_004916335.1
Process
IDNameEvidence
GO:0002931response to ischemiaIEA
GO:0006006glucose metabolic processIMP
GO:0006112energy reserve metabolic processTAS
GO:0007268synaptic transmissionTAS
GO:0010107potassium ion importISS
GO:0032355response to estradiolIEA
GO:0033198response to ATPIDA
GO:0033574response to testosteroneIEA
GO:0042391regulation of membrane potentialIDA
GO:0042493response to drugIMP
GO:0044281small molecule metabolic processTAS
GO:0046676negative regulation of insulin secretionIMP
GO:0050796regulation of insulin secretionIMP
GO:0050796regulation of insulin secretionTAS
GO:0050877neurological system processIMP
GO:0071316cellular response to nicotineIEA
GO:0071333cellular response to glucose stimulusIEA
GO:0071356cellular response to tumor necrosis factorIEA
GO:0071805potassium ion transmembrane transportIDA
GO:2001259positive regulation of cation channel activityIEA
Component
IDNameEvidence
GO:0005635nuclear envelopeIEA
GO:0005739mitochondrionIEA
GO:0005768endosomeIEA
GO:0005783endoplasmic reticulumIEA
GO:0005829cytosolIEA
GO:0005886plasma membraneIDA
GO:0005886plasma membraneTAS
GO:0005887integral component of plasma membraneTAS
GO:0008076voltage-gated potassium channel complexIDA
GO:0008282ATP-sensitive potassium channel complexIDA
GO:0008282ATP-sensitive potassium channel complexISS
GO:0014704intercalated discIEA
GO:0030315T-tubuleISS
GO:0030673axolemmaIEA
GO:0043025neuronal cell bodyIEA
GO:0043209myelin sheathIEA
GO:0070852cell body fiberIEA
Function
IDNameEvidence
GO:0005249voltage-gated potassium channel activityIDA
GO:0005524ATP bindingISS
GO:0008022protein C-terminus bindingIEA
GO:0015272ATP-activated inward rectifier potassium channel activityISS
GO:0030506ankyrin bindingIPI
GO:0030955potassium ion bindingTAS
GO:0031072heat shock protein bindingIEA
GO:0044325ion channel bindingIPI
GeneCards KCNJ11
UniProt B2RC52, Q14654
Vega OTTHUMG00000165914
MIM 600937
Ensembl ENSG00000187486
HGNC 6257
HPRD 09022

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the KCNJ11 gene?

The KCNJ11 gene provides instructions for making parts (subunits) of the ATP-sensitive potassium (K-ATP) channel. Each K-ATP channel consists of eight subunits. Four subunits are produced from the KCNJ11 gene, and four are produced from another gene called ABCC8.

K-ATP channels are found in beta cells, which are cells in the pancreas that secrete the hormone insulin. The K-ATP channels are embedded in cell membranes, where they open and close in response to the amount of glucose in the bloodstream. Glucose is a simple sugar and the primary energy source for most cells in the body. Closure of the K-ATP channels in response to increased glucose triggers the release of insulin out of beta cells and into the bloodstream, which helps control blood sugar levels.

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