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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KCNJ2 Gene

protein-coding GIFtS: 67
GCID: GC17P068165

potassium inwardly-rectifying channel, subfamily J, member...

Explore 18 diseases affiliated with
KCNJ2 via

MalaCards

our new
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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Potassium Inwardly-Rectifying Channel, Subfamily J, Member 2¹ ²		SQT3² ⁵
IRK1¹ ² ³ ⁵		Kir2.1¹
LQT7¹ ² ⁵		ATFB9²
Cardiac Inward Rectifier Potassium Channel² ³		HHBIRK1²
IRK-1² ³		Inward Rectifier K+ Channel KIR2.1²
HIRK1¹		Inward Rectifier Potassium Channel 2²
HHIRK1² ⁵		Inward Rectifier K(+) Channel Kir2.1³
KIR2.1² ⁵		Potassium Channel, Inwardly Rectifying Subfamily J Member 2³

External Ids:	HGNC: 6263¹	Entrez Gene: 3759²	Ensembl: ENSG00000123700⁷	OMIM: 600681⁵	UniProtKB: P63252³

Export aliases for KCNJ2 gene to outside databases

Previous GC identifers: GC17P067921 GC17P071125 GC17P068630 GC17P068762 GC17P065677 GC17P063552

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

Entrez Gene summary for KCNJ2:

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, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues.

Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis,

cardiac arrhythmias, and dysmorphic features. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: IRK2_HUMAN, P63252

Function: Probably participates in establishing action potential waveform and excitability of neuronal and muscle

tissues. 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 or cesium

summary for KCNJ2:

The inward-rectifier potassium channel family (also known as 2-TM channels) include the strong

inward-rectifier channels (KIR2.x), the G-protein-activated inward-rectifier channels (KIR3.x) and the

ATP-sensitive channels (KIR6.x, which combine with sulphonylurea receptors (SUR)). Structurally, the

pore-forming subunit of KIR channels is the alpha-subunit. It contains a single pore domain between two

membrane spanning regions. Four alpha-subunits combine to form a tetramer, with the pore domain of each

subunit contributing to the structure of the central pore. Heteromeric channels can also be formed within

subfamilies, e.g. KIR3.2 with KIR3.3.

Gene Wiki entry for KCNJ2 (Kir2.1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KCNJ2 gene promoter:
Nkx3-1 v2 Nkx3-1 AREB6 Nkx3-1 v4 Nkx3-1 v3 Nkx3-1 v1 ITF-2 Tal-1beta C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KCNJ2 promoter sequence

Search SABiosciences Chromatin IP Primers for KCNJ2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNJ2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q24.3 Ensembl cytogenetic band: 17q24.3 HGNC cytogenetic band: 17q24.3

KCNJ2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNJ2 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P068165: view genomic region (about GC identifiers)

Start:	68,164,814 bp from pter	End:	68,176,189 bp from pter
Size:	11,376 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: IRK2_HUMAN, P63252 (See protein sequence)

Recommended Name: Inward rectifier potassium channel 2

Size: 427 amino acids; 48288 Da

Subunit: Homomultimeric and heteromultimeric association with Kir2.3, resulting in an enhanced G-protein-induced

current. Association, via its PDZ-recognition domain, with LIN7A, LIN7B, LIN7C, DLG1, CASK and APBA1 plays a key role

in its localization and trafficking (By similarity)

Subcellular location: Membrane; Multi-pass membrane protein

Secondary accessions: O15110 P48049

Explore the universe of human proteins at neXtProt for KCNJ2: NX_P63252

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P63252

KCNJ2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000882.1

ENSEMBL proteins:

ENSP00000441848 ENSP00000243457

Reactome Protein details: P63252
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	Uscn Proteins for KCNJ2

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	7696590
GO:0030425	dendrite	IEA	--
GO:0043025	neuronal cell body	IEA	--

KCNJ2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for KCNJ2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

KCNJ2 for domains About GeneDecksing

5 InterPro domains/families:

IPR014756 Ig_E-set

IPR013518 K_chnl_inward-rec_Kir_cyto

IPR016449 K_chnl_inward-rec_Kir

IPR013673 K_chnl_inward-rec_Kir_N

IPR003271 K_chnl_inward-rec_Kir2.1

Graphical View of Domain Structure for InterPro Entry P63252

ProtoNet protein and cluster: P63252

1 Blocks protein family: IPB013673 Inward rectifier potassium channel N-terminal

UniProtKB/Swiss-Prot: IRK2_HUMAN, P63252

Similarity: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ2 subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: IRK2_HUMAN, P63252

Function: Probably participates in establishing action potential waveform and excitability of neuronal and muscle

tissues. 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 or cesium

Genatlas biochemistry entry for KCNJ2:

potassium non voltage-gated,inwardly rectifying subfamily member,ATP regulated,expressed in heart,brain,mouse mIRK1

homolog

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNJ2

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005242	inward rectifier potassium channel activity	IEA	--
GO:0005515	protein binding	--	--
GO:0042802	identical protein binding	IEA	--

KCNJ2 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for KCNJ2:

Increased cell number in G2M,

Animal Models:
Mouse knock-out Kcnj2^tm1Swz for KCNJ2
8 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Kcnj2):

cardiovascular system	craniofacial	digestive/alimentary	homeostasis/metabolism	mortality/aging
muscle	respiratory system	skeleton

KCNJ2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Inwardly rectifying K+ channels

	Inwardly rectifying K+ channels	1.00			G protein gated Potassium channels	0.81
	Activation of G protein gated Potassium channels	0.81			Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits	0.81

Activation of GABAB receptors

	Activation of GABAB receptors	1.00			GABA receptor activation	0.72
	GABA B receptor activation	1.00

Transmission across Chemical Synapses

	Transmission across Chemical Synapses	1.00			Neuronal System	0.67
	Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	0.72

Potassium Channels

Potassium Channels

1.00

Potassium transporters: outward current

0.42

Classical Kir channels

Classical Kir channels

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for KCNJ2

	Potassium transporters- inward current
	Potassium transporters- outward current

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNJ2

Dopamine-DARPP32 Feedback onto cAMP Pathway

5/12 Reactome Pathways for KCNJ2 (see all 12)

	Classical Kir channels
	Transmission across Chemical Synapses
	G protein gated Potassium channels
	Neuronal System
	Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell

1 PharmGKB Pathway for KCNJ2

Antiarrhythmic Pathway, Pharmacodynamics

2 Kegg Pathways (Kegg details for KCNJ2):

	Cholinergic synapse
	Gastric acid secretion

KCNJ2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for KCNJ2

STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

5/17 Interacting proteins for KCNJ2 (P63252³ ENSP00000243457⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IL16	Q14005³, ENSP00000302935⁴	I2D: score=5 STRING: ENSP00000302935
DLG4	P78352³, ENSP00000293813⁴	I2D: score=3 STRING: ENSP00000293813
CASK	O14936³, ENSP00000367408⁴	I2D: score=2 STRING: ENSP00000367408
DLG1	Q12959³, ENSP00000345731⁴	I2D: score=2 STRING: ENSP00000345731
KCNJ4	P48050³, ENSP00000306497⁴	I2D: score=1 STRING: ENSP00000306497

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006813	potassium ion transport	TAS	7696590
GO:0007268	synaptic transmission	TAS	--
GO:0015693	magnesium ion transport	IEA	--
GO:0086001	regulation of cardiac muscle cell action potential	IEA	--

KCNJ2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

KCNJ2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for KCNJ2 available from Tocris Bioscience About this table

Compound	Action	CAS #
ML 133 hydrochloride	Kir2 inhibitor	[1222781-70-5]
Tertiapin-Q	Selective blocker of inward-rectifier K+ channels	[252198-49-5]

2 HMDB Compounds for KCNJ2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Magnesium	Magnesium (see all 2)	7439-95-4	--
Potassium	K+ (see all 16)	7440-09-7	--

10/13 Novoseek chemical compound relationships for KCNJ2 gene (see all 13) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
potassium	77.2	60	8609894 (3), 9284339 (3), 8842207 (2), 11971171 (2) (see all 43)
pip2	54.1	1	16217063 (1)
spermine	42.5	7	15795311 (2)
tetraethylammonium	27.7	2	16043774 (1)
carbachol	16.2	5	14500755 (3), 8609894 (2)
pd 98,059	11.1	1	14500755 (1)
isoproterenol	10	1	17534603 (1)
ammonium	1.43	1	11687881 (1)
calcium	0	3	18382206 (1), 8609894 (1), 16831831 (1)
tyrosine	0	1	9284339 (1)

Search CenterWatch for drugs/clinical trials and news about KCNJ2 / IRK2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KCNJ2 gene:

NM_000891.2

Unigene Cluster for KCNJ2:

Potassium inwardly-rectifying channel, subfamily J, member 2

Hs.1547 [show with all ESTs]

Unigene Representative Sequence: NM_000891

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000535240 ENST00000243457(uc010dfg.3 uc002jir.3)

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Additional cDNA sequence:

AF011904.1 AF021139.1 AF153820.1 AK314081.1 U12507.1 U16861.1 U22413.1 U24055.1

3 DOTS entries:

DT.451826 DT.99998448 DT.120910126

24/50 AceView cDNA sequences (see all 50):

AA393849 NM_000891 BX102104 CD679179 AI459196 BF111326 AA393850 CO247976

AF153820 AA253318 AA912659 AI475473 U12507 AF021139 CB322001 CO250229

CO247796 CO247748 AA946757 CO250234 AF011904 CO250023 AA694444 CO247550

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KCNJ2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GATTGTACAT

About this image

KCNJ2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Endocardium

Cushion Mesenchymal Cells

Endocardium

Bone

Maxillary Process

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

PureStem™ progenitor EN27 (Embryonic Progenitor Cell)

See KCNJ2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KCNJ2

SOURCE GeneReport for Unigene cluster: Hs.1547

UniProtKB/Swiss-Prot: IRK2_HUMAN, P63252

Tissue specificity: Heart, brain, placenta, lung, skeletal muscle, and kidney. Diffusely distributed throughout the

brain

SABiosciences Expression via Pathway-Focused PCR Array including KCNJ2:

Neuronal Ion Channels in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for KCNJ2 gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	KCNJ2¹	potassium inwardly-rectifying channel, subfamily J, more	84(n) 94.38(a)		396328 NM_205370.1 NP_990701.1
lizard (Anolis carolinensis)	Reptilia	KCNJ2⁶	--	94(a)	1 ↔ 1	GL343258.1(1990283-1991560)
tropical clawed frog (Xenopus tropicalis)	Amphibia	137712100²	--	75.41(n)		137712100
zebrafish (Danio rerio)	Actinopterygii	LOC564522¹	inward rectifier potassium channel 2-like	76.34(n) 84.91(a)		564522 XM_001923051.1 XP_001923086.1
fruit fly (Drosophila melanogaster)	Insecta	Ir³	inward rectifier potassium channel	51(a) (best of 3)		94E4 --
worm (Caenorhabditis elegans)	Secernentea	irk-2³	potassium channel	48(a) (best of 2)		X(739153-745460) --

ENSEMBL Gene Tree for KCNJ2 (if available)
TreeFam Gene Tree for KCNJ2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for KCNJ2 gene

KCNJ4² KCNJ9² KCNJ16² KCNJ8² KCNJ1² KCNJ15² KCNJ12² KCNJ5²

KCNJ6² KCNJ10² KCNJ14² KCNJ3² KCNJ11²

16 SIMAP similar genes for KCNJ2 using alignment to 1 protein entry: IRK2_HUMAN:

KCNJ12 KCNJ18 kcnj12x KCNJ5 KCNJ14 KCNJ4

KCNJ6 KCNJ9 KCNJ3 KCNJ11 KCNJ15 KCNJ10

KCNJ16 KCNJ1 KCNJ8 KCNJ13

KCNJ2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs7221086^1,2	C,F,A,H,	non-pathogenic	78256841(+)	`AAAAGC/TCACTT`	2	S	syn¹ ese³		14		NS EA WA NA EU	7253
rs104894582^1,2	C	pathogenic	78256597(+)	`GCATGA/GTGGAA`	2	M V	mis¹		0	--	--	--	--
rs104894579^1,2	C	pathogenic	78256602(+)	`GGAAGA/C/G/T CATGG`	4	D A G V	mis¹		0	--	--	--	--
rs104894578^1,2	C	pathogenic	78256849(+)	`ATCTTC/TGGAAA`	2	R W	mis¹		0	--	--	--	--
rs104894583^1,2	C	pathogenic	78256855(+)	`TGGGCA/CATCTT`	2	N H	mis¹		0	--	--	--	--
rs104894581^1,2	C	pathogenic	78256944(+)	`AAAGCC/TAAAGA`	2	P L	mis¹		0	--	--	--	--
rs104894584^1,2	C	pathogenic	78256987(+)	`TCATCA/GATGCT`	2	N D	mis¹		0	--	--	--	--
rs104894585^1,2	C	pathogenic	78257277(+)	`CACCAC/G/TGTGTG`	3	T R M	mis¹		0	--	--	--	--
rs104894575^1,2	C	pathogenic	78257289(+)	`CGCAGA/TCATCT`	2	D V	mis¹		0	--	--	--	--
rs199473387^1,2	C	untested	78256588(+)	`AAGCCA/C/GCTGCC`	3	T P A	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KCNJ2 (68164814 - 68176189 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for KCNJ2
2 CNVs: 0211 35485
1 Indel: 58813
Human Gene Mutation Database (HGMD): KCNJ2

Locus Specific Mutation Databases (LSDB): KCNJ2

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

KCNJ2 for disorders           About GeneDecksing

OMIM gene information: 600681
OMIM disorders: 170390  609622
UniProtKB/Swiss-Prot: IRK2_HUMAN, P63252

Defects in KCNJ2 are the cause of long QT syndrome type 7 (LQT7) [MIM:170390]; also called Andersen syndrome

or Andersen cardiodysrhythmic periodic paralysis. Long QT syndromes are heart disorders characterized by a prolonged

QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to

excercise or emotional stress. LQT7 manifests itself as a clinical triad consisting of potassium-sensitive periodic

paralysis, ventricular ectopy and dysmorphic features

Defects in KCNJ2 are the cause of short QT syndrome type 3 (SQT3) [MIM:609622]. Short QT syndromes are heart

disorders characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural

heart disease in affected individuals. They cause syncope and sudden death. SQT3 has a unique ECG phenotype

characterized by asymmetrical T waves

Defects in KCNJ2 are the cause of familial atrial fibrillation type 9 (ATFB9) [MIM:613980]. ATFB9 is a

familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is

characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in

the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and

congestive heart failure

18 diseases for KCNJ2: About MalaCards

paralysis andersen-tawil syndrome catecholaminergic polymorphic ventricular tachycardia anderson-tawil syndrome

pierre robin sequence long qt syndrome short qt syndrome 3 short qt syndrome

ventricular tachycardia sudden infant death syndrome periodic paralyses atrial fibrillation

familial periodic paralysis familial atrial fibrillation ventricular fibrillation neuronitis

cholesterol pancreatitis

3 diseases from the University of Copenhagen DISEASES database for KCNJ2:

Long QT syndrome Hypokalemic periodic paralysis Hyperkalemic periodic paralysis

10/19 Novoseek disease relationships for KCNJ2 gene (see all 19) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
andersen syndrome	98.2	29	16541386 (4), 12689820 (2), 15852530 (1), 16769944 (1) (see all 24)
periodic paralysis	93	11	17324964 (2), 16571646 (1), 16500306 (1), 16541386 (1) (see all 9)
long qt syndrome	73.7	3	14642002 (1), 15276028 (1), 16623272 (1)
ventricular tachycardia, catecholaminergic polymorphic	72.7	2	19843922 (2)
arrhythmia	72.4	9	17341397 (2), 16541386 (1), 17324964 (1), 15276028 (1) (see all 8)
ventricular arrhythmia	66.4	7	15851159 (1), 15852530 (1), 17221872 (1), 17166852 (1) (see all 7)
tachycardia ventricular	62.8	3	15851159 (2), 15851160 (1)
death sudden cardiac	59.9	1	17272325 (1)
ventricular tachyarrhythmia	59.5	1	16258766 (1)
clinodactyly	53.7	1	17119796 (1)

GeneTests: KCNJ2

Andersen-Tawil Syndrome

Human Genome Epidemiology (HuGE) Navigator: KCNJ2 (8 documents)

Export disorders for KCNJ2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for KCNJ2 gene, integrated from 9 sources (see all 197):
(articles sorted by number of sources associating them with KCNJ2)

Utopia: connect your pdf to the dynamic
world of online information

Molecular cloning and expression of a human heart inward rectifier potassium channel. (PubMed id 7696590)^{1, 2, 3, 9} Raab-Graham K.F.... Vandenberg C.A. (1994)
Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits. (PubMed id 11240146)^{1, 2, 3, 9} Derst C.... Karschin A. (2001)
Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome. (PubMed id 16571646)^{1, 2, 9} Lu C.W....Towbin J.A. (2006)
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). (PubMed id 12163457)^{1, 2, 9} Tristani-Firouzi M.... Tawil R. (2002)
Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred. (PubMed id 17324964)^{1, 2, 9} Bendahhou S....Barhanin J. (2007)
KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. (PubMed id 12148092)^{1, 2, 9} Andelfinger G....Benson D.W. (2002)
A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. (PubMed id 15761194)^{1, 2, 9} Priori S.G.... Jalife J. (2005)
Inwardly rectifying whole cell potassium current in human blood eosinophils. (PubMed id 9490857)^{1, 2, 9} Tare M.... Bolton T.B. (1998)
International Union of Pharmacology. LIV. Nomenclatur e and molecular relationships of inwardly rectifying potassium channels. (PubMed id 16382105)^{1, 3} Kubo Y....Vandenberg C.A. (2005)
A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. (PubMed id 15922306)^{1, 2} Xia M....Chen Y. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3759	HGNC: 6263	AceView: KCNJ2	Ensembl:ENSG00000123700	euGenes: HUgn3759
ECgene: KCNJ2	Kegg: 3759	H-InvDB: KCNJ2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for KCNJ2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNJ2

Intellectual Property for KCNJ2 gene
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Patent Information for KCNJ2 gene:
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KCNJ2 Gene

potassium inwardly-rectifying channel, subfamily J, member...

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Tachycardia Ventricular
Heart Defects Congenital
Death Sudden
Andersen-Tawil Syndrome
Heart Diseases
ANDERSEN SYNDROME
Death Sudden Cardiac
Long QT Syndrome
VENTRICULAR ARRHYTHMIA
Atrial Fibrillation
Arrhythmia
VENTRICULAR TACHYARRHYTHMIA
Paralysis
MICROGNATHIA
congenital malformation
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC
genetic disorder
PERIODIC PARALYSIS
CLINODACTYLY
rare disease

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KCNJ2 Gene

potassium inwardly-rectifying channel, subfamily J, member...

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