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KCNJ11 Gene

protein-coding GIFtS: 69

GC11M017363

potassium inwardly-rectifying channel, subfamily J, member 11
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
BIR ^¹, ², ⁵
HHF2 ^², ⁵
IKATP ^², ³
KIR6.2 ^²
Kir6.2 ^¹
MGC133230 ^²
PHHI ^², ⁵
TNDM3 ^², ⁵

Descriptions
ATP-sensitive inward rectifier potassium channel 11 ^²
Inward rectifier K(+) channel Kir6.2 ^³
Potassium channel, inwardly rectifying subfamily J member 11 ^³
beta-cell inward rectifier subunit ^²
inwardly rectifying potassium channel KIR6.2 ^²
potassium inwardly-rectifying channel J11 ^²
potassium inwardly-rectifying channel, subfamily J, member 11 ^²

External Ids
HGNC: 6257¹
Entrez Gene: 3767²
UniProtKB: Q14654³
Ensembl: ENSG00000187486⁷

Search outside databases for aliases for KCNJ11 gene

Previous GC identifers: GC11M018547 GC11M018350 GC11M017446 GC11M017372 GC11M017371

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for KCNJ11:

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). [provided by

RefSeq]

UniProtKB/Swiss-Prot: IRK11_HUMAN, Q14654

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)

Gene Wiki entry for KCNJ11 (Kir6.2)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the KCNJ11 gene

Entrez Gene cytogenetic band: 11p15.1 Ensembl cytogenetic band: 11p15.1 HGNC cytogenetic band: 11p15.1

KCNJ11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M017363: (about GC identifiers)

Start:	17,363,371 bp from pter
End:	17,366,782 bp from pter
Size:	3,412 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000011.8 NT_009237.17

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: IRK11_HUMAN, Q14654 (See protein sequence)

Recommended Name: ATP-sensitive inward rectifier potassium channel 11

Size: 390 amino acids; 43541 Da

Subunit: Associates with ABCC8/SUR

Subcellular location: Membrane; Multi-pass membrane protein

Secondary accessions: Q2M1H7 Q58EX3

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000516.3

ENSEMBL proteins:

ENSP00000345708

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Kir6.2)
	Human Recombinant Proteins from Abnova (Kcnj11)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IEA	--
GO:0005783	endoplasmic reticulum	IEA	--
GO:0005792	microsome	IEA	--
GO:0005886	plasma membrane	IEA	--
GO:0008282	ATP-sensitive potassium channel complex	IEA	--

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Antibodies for KCNJ11:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of KCNJ11
	Sigma-Aldrich Antibodies for KCNJ11
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Kir6.2), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (Kcnj11)
	Novus Biologicals Antibodies for KCNJ11

Assays for KCNJ11:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry Q14654

ProtoNet protein and cluster: Q14654

2 Blocks protein families:

IPB001838 Inward rectifier K+ channel superfamily signature

IPB003279 Kir6.2 inward rectifier K+ channel signature

UniProtKB/Swiss-Prot: IRK11_HUMAN, Q14654

Similarity: Belongs to the inward rectifier-type potassium channel family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (KCNJ11)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (Kcnj11)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000525

Applied Biosystems Silencer® siRNAs for KCNJ11

Sigma-Aldrich siRNA and siRNA Panels for KCNJ11

Sigma-Aldrich shRNA Panels and shRNA for KCNJ11

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for KCNJ11
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000525
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000525
untagged cDNA clone in CMV expression vector: NM_000525

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000525

UniProtKB/Swiss-Prot: IRK11_HUMAN, Q14654

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)

Genatlas biochemistry entry for KCNJ11:

potassium non voltage-gated channel,weakly inwardly rectifying,member 11,component with SUR1 of an

ATP dependent potassium channel,expressed in pancreatic islet,beta cell

6 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Kcnj11):

	digestive/alimentary	endocrine/exocrine gland	homeostasis/metabolism	nervous system
no phenotypic analysis

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005244	voltage-gated ion channel activity	IEA	--
GO:0005524	ATP binding	IEA	--
GO:0008022	protein C-terminus binding	IEA	--
GO:0015272	ATP-activated inward rectifier potassium channel activity	IEA	--
GO:0030955	potassium ion binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for KCNJ11 (Your Favorite Gene powered by Ingenuity)

Type II Diabetes Mellitus Signaling

GeneDecks KCNJ11 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for KCNJ11

5/46 Interacting proteins for KCNJ11 (ENSP00000345708³) via UniProtKB, MINT, and/or STRING (see all 46 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ABCC8	ENSP00000303960³	STRING (score=.999)
FOXA2	ENSP00000366319³	STRING (score=.988)
PPARG	ENSP00000287820³	STRING (score=.97)
XIAP	ENSP00000360242³	STRING (score=.965)
INS	ENSP00000370731³	STRING (score=.96)

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5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006006	glucose metabolic process	IMP	8923010 15115830
GO:0006811	ion transport	IEA	--
GO:0010107	potassium ion import	IEA	--
GO:0033198	response to ATP	IDA	15583126 18073297
GO:0042391	regulation of membrane potential	IDA	18073297

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Sigma-Aldrich Small Molecules for KCNJ11:

Antagonist

Compounds for KCNJ11 available from Tocris Bioscience

Compound	Action	CAS number
ZM 226600	KATP channel opener	[147695-92-9]
Minoxidil	K+ channel (KATP) opener	[38304-91-5]
PNU 37883 hydrochloride	Vascular KATP channel blocker	[57568-80-6]
Diazoxide	Blocks desensitization of AMPA receptors	[364-98-7]
Y-27152	Prodrug of KATP channel opener Y-26763; orally active in vivo	[127408-30-4]

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10/14 Novoseek chemical compound relationships for KCNJ11 gene (see all 14 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
katp	95.35	222	9326676 (4), 15380676 (4), 14739809 (3), 10049691 (3) (see all 99)
sulfonylurea	95.17	132	17213273 (4), 17047922 (4), 18548275 (3), 8607800 (3) (see all 92)
potassium	84.11	141	8607800 (3), 10559219 (2), 9356020 (1), 9867219 (1) (see all 99)
mgadp	82.73	11	11585851 (2), 10833411 (1), 9756869 (1), 18008114 (1) (see all 6)
atp	66.49	94	10545134 (4), 11585851 (4), 10049691 (3), 9763630 (3) (see all 52)
glucose	57.40	38	11145575 (5), 15579791 (3), 12351459 (2), 9032110 (2) (see all 20)
c-peptide	46.17	3	16602010 (1), 17976307 (1)
adp	42.48	3	11073882 (1), 10581363 (1), 12145099 (1)
4alpha-phorbol 12,13-didecanoate	41.77	11	8593708 (2)
pip2	36.40	5	16373383 (2), 11585851 (2), 9804555 (1)

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2 PharmGKB drug compound relationships for KCNJ11 gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
antiarrhythmics	FA	7502040
diazoxide	FA	7502040

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (KCNJ11)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (Kcnj11)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000525

Sigma-Aldrich siRNA and siRNA Panels for KCNJ11

Sigma-Aldrich shRNA Panels and shRNA for KCNJ11

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000525

REFSEQ mRNAs for KCNJ11 gene:

NM_000525.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000525

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000525
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000525
                                 untagged cDNA clone in CMV expression vector: NM_000525

Additional cDNA sequence:

AK301550.1 AK314943.1 BC040617.1 BC064497.1 BC112358.1

3 DOTS entries:

DT.91981566 DT.100749583 DT.95194885

24 AceView cDNA sequences:

AA679741 AI377272 BX281091 NM_000525 BC040617 CA777857 BM480315 BE294700

BQ917358 BQ711583 BM546966 BM676395 BE019467 BU738791 CA778121 BM713280

BG394461 BC064497 CB112941 AI792302 BE253084 F21303 BF842095 AI313045

highest scoring ESTs for KCNJ11:

AI792302 BC064497 BE019467 BE159475 BE253084 BE294700 BF842095 BG394461 BM480315 BX281091

Unigene Cluster for KCNJ11:

Potassium inwardly-rectifying channel, subfamily J, member 11

Hs.248141 [show with all ESTs]

Unigene Representative Sequence: NM_000525

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ11

ExUns:	1	^	2	^	3	^	4	^	5	^	6a	·	6b
SP1:
SP2:			-		-
SP3:

About this scheme

ECgene alternative splicing isoforms for KCNJ11

1 Ensembl transcript including schematic representation:

ENST00000339994

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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KCNJ11 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for KCNJ11

¹ / ² / ³

3 probe-sets matching KCNJ11 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
67681_at²^{, 3}	U95-D	1	1.00	1.00	1.00	1.00	AI377272	0.60	1.00	0.82	1
231740_at²^{, 3}	U133-B	1	1.00	1.00	--	--	NM_000525	0.60	1.00	0.82	1
231740_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks KCNJ11 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CTGAGGAAAC

SOURCE GeneReport for Unigene cluster: Hs.248141

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for KCNJ11 gene from 5/7 species (see all 7 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	KCNJ11¹	--	potassium inwardly-rectifying channel, subfamily J, more	91.54(n) 96.92(a)	485401 XM_542519.2 XP_542519.1
chimpanzee (Pan troglodytes)	KCNJ11¹	--	potassium inwardly-rectifying channel, subfamily J, more	98.97(n) 98.97(a)	466450 XM_521849.2 XP_521849.2
cow (Bos taurus)	KCNJ11¹	--	potassium inwardly-rectifying channel, subfamily J, more	91.49(n) 95.1(a)	532060 XM_610569.3 XP_610569.3
rat (Rattus norvegicus)	Kcnj11¹	--	potassium inwardly rectifying channel, subfamily J, more	88.55(n) 96.15(a)	83535 NM_031358.3 NP_112648.2
mouse (Mus musculus)	Kcnj11^{1, 5}	7 (41.00 cM)⁵	potassium inwardly rectifying channel, subfamily J, more^{1, 5}	89.4(n)¹ 95.9(a)¹	16514¹ NM_010602.2¹ NP_034732.1¹ AF037313⁵ AI842722⁵ (see all 12)

About this table Species with no ortholog for KCNJ11

ENSEMBL Gene Tree for KCNJ11

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for KCNJ11 gene

KCNJ16² KCNJ1² KCNJ8²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/60 NCBI SNPs in KCNJ11 are shown (see all 60 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 62)

AB	SNP ID	Valid	Chr 11 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs2285676^1,2	A,C,F,H	17364601(-)	`GCACCC/TGGCTA`	1	--	ut3¹		9		EA EU WA	2334
	rs886288^1,2	A,C,F,H	17367739(-)	`GGGGAT/CATTGG`	1	--	ng3¹		5		MN EU EA WA	602
	rs5215^1,2	A,C,F,H	17365206(+)	`TTTGAT/CGGTGT`	1	I/V	mis¹		16		MN EU EA WA NA	1818
	rs2074314^1,2	A,C,F,H	17368397(-)	`TGGCCA/GCAGAT`	1	--	ng3¹		4		EU EA WA	412
	rs5219^1,2	A,C,F	17366148(+)	`GGGCTC/TGGCAG`	1	K/E	mis¹		11		MN NA EA EU WA	1218
	rs1800467^1,2	C,F,H	17365407(-)	`ACGACC/GTGGCA`	1	L/V	mis¹		5		EU EA WA NA	456
	rs5213^1,2	A,C,F	17364980(+)	`CTGGCT/CGGGCT`	1	--	ut3¹		2		MN	332
	rs5210^1,2	A,C,F	17364827(+)	`GTCCTG/AAATTG`	1	--	ut3¹		6		MN EU NA EA	1431
	rs10734253^1,2	A,C	17363183(+)	`CCCACC/GCTTCT`	1	--	ng5¹		0	--	--	--	--
	rs10766395^1,2	A,C	17363208(+)	`GGCTGC/TGTGGC`	1	--	ng5¹		0	--	--	--	--

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HapMap Linkage Disequilibrium images for KCNJ11 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 600937 disorders: 601820 606176 606176 125853 610582

UniProtKB/Swiss-Prot: IRK11_HUMAN, Q14654

Defects in KCNJ11 are the cause of familial hyperinsulinemic hypoglycemia type 2 (HHF2)

[MIM:601820]; also known as persistent hyperinsulinemic hypoglycemia of infancy (PPHI) or

hyperinsulinism. HHF2 is the most common cause of persistent hypoglycemia in infancy and is due to

defective negative feedback regulation of insulin secretion by low glucose levels. It causes

nesidioblastosis, a diffuse abnormality of the pancreas in which there is extensive, often

disorganized formation of new islets. Unless early and aggressive intervention is undertaken,

brain damage from recurrent episodes of hypoglycemia may occur

Defects in KCNJ11 are a cause of permanent neonatal diabetes mellitus (PNDM) [MIM:606176].

PNDM is a rare form of diabetes characterized by insulin-requiring hyperglycemia that is diagnosed

within the first months of life

Defects in KCNJ11 are the cause of transient neonatal diabetes mellitus type 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

Defects in KCNJ11 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also

known as diabetes mellitus type 2

10/19 Novoseek disease relationships for KCNJ11 gene (see all 19 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
hyperinsulinism	93.44	45	15579781 (2), 18767144 (2), 17451083 (2), 16332676 (2) (see all 24)
neonatal diabetes mellitus	93.39	28	17491708 (2), 19169493 (2), 17476415 (2), 17659066 (2) (see all 16)
hypoglycemia	80.65	17	16142506 (2), 10615958 (1), 19214942 (1), 10334322 (1) (see all 11)
developmental delay	64.86	9	16670688 (2), 17047922 (2), 16375017 (1), 17890419 (1) (see all 7)
insulinoma	52.35	3	10928959 (1), 8549751 (1)
hyperammonemia	51.43	1	17003566 (1)
niddm	49.05	28	9032110 (3), 9032109 (3), 8549873 (2), 11318841 (2) (see all 14)
diabetes mellitus	40.69	8	17890419 (1), 11424233 (1), 18767144 (1), 8607800 (1) (see all 6)
hyperinsulinemia	35.86	1	16416420 (1)
insulin sensitivity	31.94	12	17491708 (4), 17476415 (4), 9032110 (2)

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GeneTests: KCNJ11

Familial Hyperinsulinism

Human Gene Mutation Database: KCNJ11
Genetic Association Database: KCNJ11
Human Genome Epidemiology Navigator: KCNJ11 (78 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/387 PubMed articles for KCNJ11 gene (see all 387 ):

Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. (PubMed id 7502040)^{1, 2, 3, 4, 7} Inagaki N.... Bryan J. (1995)
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. (PubMed id 8897013)^{1, 3, 4, 6} Sakura H.... Ashcroft F.M. (1996)
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. (PubMed id 15115830)^{1, 3, 4, 6} Gloyn A.L....Hattersley A.T. (2004)
A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels. (PubMed id 16332676)^{1, 3, 4} Lin Y.-W.... Shyng S.-L. (2006)
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. (PubMed id 15784703)^{1, 3, 4} Yorifuji T.... Nakahata T. (2005)
Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. (PubMed id 8923010)^{1, 3, 4} Thomas P.... Lightner E. (1996)
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. (PubMed id 17213273)^{1, 3, 4} Stanik J.... Klimes I. (2007)
Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. (PubMed id 16731833)^{1, 3, 4} Shimomura K....Ashcroft F.M. (2006)
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. (PubMed id 15580558)^{1, 3, 4} Massa O.... Barbetti F. (2005)
Polymorphisms of the SUR1 (ABCC8) and Kir6.2 (KCNJ11) genes predict the conversion from impaired glucose tolerance to type 2 diabetes. The Finnish Diabetes Prevention Study. (PubMed id 15579791)^{1, 3, 6} Laukkanen O....Laakso M. (2004)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 3767	HGNC: 6257	AceView: KCNJ11	Ensembl:ENSG00000187486	euGenes: HUgn3767
ECgene: KCNJ11	H-InvDB: KCNJ11

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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GeneReviews	http://www.genetests.org/query?gene=KCNJ11

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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Products for KCNJ11:

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KCNJ11 Gene

protein-coding GIFtS: 69

Aliases &
Descriptions
for KCNJ11

Summaries
for KCNJ11

Genomic Location
for KCNJ11

Proteins
for KCNJ11

Protein Domains/
Families
for KCNJ11

Gene Function
for KCNJ11

Pathways & Interactions
for KCNJ11

Drugs & Compounds
for KCNJ11

Transcripts
for KCNJ11

Expression
for KCNJ11

Orthologs
for KCNJ11

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for KCNJ11

Medical News
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Publications
for KCNJ11

Search for KCNJ11

Genome Databases showing KCNJ11

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Services
for KCNJ11

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

KCNJ11 Gene

protein-coding GIFtS: 69

Aliases & Descriptionsfor KCNJ11

Summariesfor KCNJ11

Genomic Locationfor KCNJ11

Proteinsfor KCNJ11

Protein Domains/Familiesfor KCNJ11

Gene Functionfor KCNJ11

Pathways & Interactionsfor KCNJ11

Drugs & Compoundsfor KCNJ11

Transcriptsfor KCNJ11

Expression for KCNJ11

Orthologsfor KCNJ11

Paralogsfor KCNJ11

SNPs/Variantsfor KCNJ11

Disorders & Mutationsfor KCNJ11

Medical Newsfor KCNJ11

Publicationsfor KCNJ11

Search for KCNJ11

Genome Databases showing KCNJ11

Other Databases showing KCNJ11

Specialized Databases showing KCNJ11

Licensable Technologiesfor KCNJ11

Servicesfor KCNJ11

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for KCNJ11

Summaries
for KCNJ11

Genomic Location
for KCNJ11

Proteins
for KCNJ11

Protein Domains/
Families
for KCNJ11

Gene Function
for KCNJ11

Pathways & Interactions
for KCNJ11

Drugs & Compounds
for KCNJ11

Transcripts
for KCNJ11

Expression
for KCNJ11

Orthologs
for KCNJ11

Paralogs
for KCNJ11

SNPs/Variants
for KCNJ11

Disorders & Mutations
for KCNJ11

Medical News
for KCNJ11

Publications
for KCNJ11

Licensable Technologies
for KCNJ11

Services
for KCNJ11