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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KCNJ5 Gene

protein-coding GIFtS: 62
GCID: GC11P128760

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

Explore 52 diseases affiliated with
KCNJ5 via

MalaCards

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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 5¹ ²		Cardiac ATP-Sensitive Potassium Channel²
GIRK4¹ ² ³ ⁵		G Protein-Activated Inward Rectifier Potassium Channel 4²
CIR¹ ² ³		Inward Rectifier K+ Channel KIR3.4²
KATP1¹ ² ⁵		GIRK-4³
LQT13¹ ² ⁵		KATP-1³
Heart KATP Channel² ³		Cardiac Inward Rectifier³
IRK-4² ³		Inward Rectifier K(+) Channel Kir3.4³
Kir3.4¹		Potassium Channel, Inwardly Rectifying Subfamily J Member 5³
KIR3.4²

External Ids:	HGNC: 6266¹	Entrez Gene: 3762²	Ensembl: ENSG00000120457⁷	OMIM: 600734⁵	UniProtKB: P48544³

Export aliases for KCNJ5 gene to outside databases

Previous GC identifers: GC11P130761 GC11P130273 GC11P128794 GC11P128298 GC11P128266 GC11P124711

(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 KCNJ5:

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. It may associate with two other G-protein-activated potassium channels to form a

heteromultimeric pore-forming complex. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: IRK5_HUMAN, P48544

Function: This potassium channel 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 external barium

summary for KCNJ5:

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 KCNJ5

(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_000011.9 NC_018922.1 NT_033899.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KCNJ5 gene promoter:
S8 HOXA3 IRF-7A STAT3 NF-E2 p45 C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KCNJ5 promoter sequence

Search SABiosciences Chromatin IP Primers for KCNJ5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNJ5

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

Entrez Gene cytogenetic band: 11q24 Ensembl cytogenetic band: 11q24.3 HGNC cytogenetic band: 11q24

KCNJ5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNJ5 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P128760: view genomic region (about GC identifiers)

Start:	128,760,140 bp from pter	End:	128,790,930 bp from pter
Size:	30,791 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: IRK5_HUMAN, P48544 (See protein sequence)

Recommended Name: G protein-activated inward rectifier potassium channel 4

Size: 419 amino acids; 47668 Da

Subunit: May associate with GIRK1 and GIRK2 to form a G-protein-activated heteromultimer pore-forming unit. The

resulting inward current is much larger (By similarity)

Subcellular location: Membrane; Multi-pass membrane protein

Secondary accessions: B2R744 Q6DK13 Q6DK14 Q92807

Explore the universe of human proteins at neXtProt for KCNJ5: NX_P48544

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P48544

KCNJ5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000881.3

ENSEMBL proteins:

ENSP00000431507 ENSP00000433295 ENSP00000339960 ENSP00000434266

Reactome Protein details: P48544
Human Recombinant Protein Products:

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	Uscn Proteins for KCNJ5

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:0008076	voltage-gated potassium channel complex	TAS	8834003
GO:0009897	external side of plasma membrane	--	--
GO:0030315	T-tubule	--	--

KCNJ5 for ontologies About GeneDecksing

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

KCNJ5 for domains About GeneDecksing

4 InterPro domains/families:

IPR014756 Ig_E-set

IPR013518 K_chnl_inward-rec_Kir_cyto

IPR016449 K_chnl_inward-rec_Kir

IPR003277 K_chnl_inward-rec_Kir3.4

Graphical View of Domain Structure for InterPro Entry P48544

ProtoNet protein and cluster: P48544

2 Blocks protein families:

IPB001838 Inward rectifier K+ channel superfamily signature

IPB003277 Kir3.4 inward rectifier K+ channel signature

UniProtKB/Swiss-Prot: IRK5_HUMAN, P48544

Similarity: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ5 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: IRK5_HUMAN, P48544

Function: This potassium channel 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 external barium

Genatlas biochemistry entry for KCNJ5:

potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 5,ATP-regulated,expressed in heart

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNJ5

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	contributes to inward rectifier potassium channel activity	IDA	12297500
GO:0005515	protein binding	IPI	12297500
GO:0015467	G-protein activated inward rectifier potassium channel activity	TAS	8834003

KCNJ5 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for KCNJ5:

Increased Salmonella enterica

Animal Models:
Mouse knock-out Kcnj5^tm1Clph for KCNJ5
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Kcnj5):

cardiovascular system

KCNJ5 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 - 5/11 super-pathways (see all 11) 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

Antiarrhythmic Pathway, Pharmacodynamics

Antiarrhythmic Pathway, Pharmacodynamics

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for KCNJ5

	Potassium transporters- inward current
	Synaptic transmission- ion currents
	Potassium transporters- outward current

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for KCNJ5

	G-Beta Gamma Signaling
	Dopamine-DARPP32 Feedback onto cAMP Pathway

2 BioSystems Pathways for KCNJ5

	Calcium Regulation in the Cardiac Cell
	Notch Signaling Pathway

5/11 Reactome Pathways for KCNJ5 (see all 11)

	Transmission across Chemical Synapses
	G protein gated Potassium channels
	Neuronal System
	Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell
	Inwardly rectifying K+ channels

1 PharmGKB Pathway for KCNJ5

Antiarrhythmic Pathway, Pharmacodynamics

KCNJ5 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for KCNJ5

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5/6 Interacting proteins for KCNJ5 (P48544³ ENSP00000339960⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
KCNJ3	P48549³, ENSP00000295101⁴	I2D: score=2 STRING: ENSP00000295101
ADRB2	P07550³, ENSP00000305372⁴	I2D: score=1 STRING: ENSP00000305372
DRD4	P21917³, ENSP00000176183⁴	I2D: score=1 STRING: ENSP00000176183
DRD2	P14416³, ENSP00000354859⁴	I2D: score=1 STRING: ENSP00000354859
CSE1L	P55060³	I2D: score=1

About this table

Gene Ontology (GO): 2 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	8834003
GO:0007268	synaptic transmission	TAS	--

KCNJ5 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

KCNJ5 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for KCNJ5 available from Tocris Bioscience About this table

Compound	Action	CAS #
Tertiapin-Q	Selective blocker of inward-rectifier K+ channels	[252198-49-5]

1 HMDB Compound for KCNJ5 About this table

Compound	Synonyms	CAS #	PubMed Ids
Magnesium	Magnesium (see all 2)	7439-95-4	--

1 DrugBank Compound for KCNJ5 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Glyburide	Apo-Glibenclamide (see all 4)	10238-21-8	target	inhibitor	11752352

10/76 Novoseek chemical compound relationships for KCNJ5 gene (see all 76) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
katp	95.7	139	12767596 (2), 9196857 (2), 7789321 (1), 9217875 (1) (see all 99)
potassium	93.2	776	18708091 (8), 8729680 (7), 18443475 (7), 16166774 (5) (see all 99)
sulfonylurea	90.3	40	15111507 (2), 9561992 (1), 11546780 (1), 12496311 (1) (see all 38)
glibenclamide	89.3	42	16166774 (2), 1356754 (2), 8928870 (1), 15483097 (1) (see all 39)
diazoxide	87.2	8	12542400 (1), 15588714 (1), 1356754 (1), 16276420 (1) (see all 8)
5-hydroxydecanoate	83.3	7	17635669 (1), 17883937 (1), 12562916 (1)
nicorandil	82.7	20	9456280 (2), 11407735 (2), 11085202 (1), 16116055 (1) (see all 17)
cromakalim	82.3	11	2184910 (2), 8941521 (1), 10466488 (1), 10714952 (1) (see all 9)
pinacidil	81	7	16166774 (2), 1560367 (1), 10570067 (1), 9515018 (1) (see all 5)
aprikalim	79.3	6	8266368 (2), 8941521 (1), 10585107 (1)

Search CenterWatch for drugs/clinical trials and news about KCNJ5 / IRK5

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 KCNJ5 gene:

NM_000890.3

Unigene Cluster for KCNJ5:

Potassium inwardly-rectifying channel, subfamily J, member 5

Hs.632109 [show with all ESTs]

Unigene Representative Sequence: NM_000890

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

ENST00000533356 ENST00000529694(uc001qet.3 uc009zck.3 uc001qew.3)

ENST00000338350 ENST00000533599

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Additional cDNA sequence:

AB690268.1 AK312837.1 BC069386.1 BC069482.1 BC069499.1 BC069571.1 BC074838.2 BC074839.2

BC096834.1 D50134.1 L47208.1 U39195.1 X83582.1

3 DOTS entries:

DT.208048 DT.120760020 DT.102823611

24/41 AceView cDNA sequences (see all 41):

CA427872 NM_000890 BM727319 BX111355 BC069386 AI312094 AI668886 AW140016

BC069499 BM995918 BC069482 BC074838 BC074839 AI097385 AW510681 BX280305

BM681697 U39195 L47208 BC069571 AI337819 BX647543 AI621136 AA576525

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ5 About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4a	·	4b	·	4c	^	5a	·	5b
SP1:									-
SP2:			-				-		-
SP3:							-		-
SP4:

ECgene alternative splicing isoforms for KCNJ5

(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

KCNJ5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

KCNJ5 expression in embryonic tissues and stem cells

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

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Amacrine, Retina

Atrioventricular Canal

Atrioventricular Canal Cells

Myocardium

Yolk Sac

Definitive Yolk Sac

Definitive Hematopoietic Stem Cells

Blood

Kidney

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See KCNJ5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KCNJ5

SOURCE GeneReport for Unigene cluster: Hs.632109

UniProtKB/Swiss-Prot: IRK5_HUMAN, P48544

Tissue specificity: Islets, exocrine pancreas and heart. Expressed in the adrenal cortex, particularly the zona

glomerulosa

SABiosciences Expression via Pathway-Focused PCR Array including KCNJ5:

Neuronal Ion Channels in human mouse rat

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In Situ
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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 KCNJ5 gene from 6/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	KCNJ5¹	potassium inwardly-rectifying channel, subfamily J, more	78.36(n) 86.16(a)		395925 XM_417864.2 XP_417864.2
lizard (Anolis carolinensis)	Reptilia	KCNJ5⁶	--	81(a)	1 ↔ 1	GL343197.1(4212055-4244751)
African clawed frog (Xenopus laevis)	Amphibia	kcnj5-A²	potassium inwardly-rectifying channel, subfamily J, more	76.4(n)		U42207.1
zebrafish (Danio rerio)	Actinopterygii	LOC571888¹	G protein-activated inward rectifier potassium channel more	74.13(n) 79.69(a)		571888 XM_695527.4 XP_700619.4
fruit fly (Drosophila melanogaster)	Insecta	Ir³ Irk2¹	inward rectifier potassium channel³ Inwardly rectifying potassium channel 2¹	51(a) (best of 2)³ 54.89(n)¹ 45.21(a)¹		94E4³ 42770¹ NM_001170229.1¹ NP_001163700.1¹
worm (Caenorhabditis elegans)	Secernentea	irk-1³	inward rectifier potassium channel (IRK)	45(a) (best of 2)		X(6802509-6806908) --

ENSEMBL Gene Tree for KCNJ5 (if available)
TreeFam Gene Tree for KCNJ5 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for KCNJ5 gene

KCNJ4² KCNJ9² KCNJ16² KCNJ8² KCNJ1² KCNJ15² KCNJ12² KCNJ6²

KCNJ2² KCNJ10² KCNJ14² KCNJ3² KCNJ11²

16 SIMAP similar genes for KCNJ5 using alignment to 6 protein entries: IRK5_HUMAN (see all proteins):

KCNJ6 KCNJ9 KCNJ2 KCNJ3 KCNJ12 kcnj12x

KCNJ18 KCNJ4 KCNJ11 KCNJ15 KCNJ8 KCNJ1

KCNJ14 KCNJ10 KCNJ16 KCNJ13

KCNJ5 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 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs199830292^1,2	C,	pathogenic	124736357(+)	`TGCTGC/GGGGGC`	2	R G	mis¹		0	--	--	--	--
rs75020262^1,2	F,	--	124709818(+)	`GGACCC/TCCAGG`	1	--	us2k¹		1		WA	118
rs77949008^1,2		--	124709829(+)	`CCACTG/ATTAGA`	1	--	us2k¹		2		CSA WA	120
rs112048823^1,2	C,F,	--	124710138(+)	`CTGCCG/CGCCCT`	1	--	us2k¹		1		NA	120
rs11221497^1,2	C,A,H,	--	124710438(+)	`AGCCCG/CGGGAC`	1	--	us2k¹		4		NA WA EA	362
rs61910640^1,2	C,	--	124710663(+)	`AGCGAC/TTGAGC`	1	--	us2k¹		1		NA	2
rs11221498^1,2		--	124711025(+)	`GCCCGC/TCCCCC`	1	--	us2k¹		0	--	--	--	--
rs36130555^1,2	C	--	124711043(+)	`ACGCCG/AGTGGC`	1	--	us2k¹		1		NA	2
rs112115275^1,2		--	124712437(+)	`AATGTG/ACCTCG`	1	--	int¹		1		CSA	2
rs78124321^1,2	F,	--	124712998(+)	`CACAGC/TGTATG`	1	--	int¹		1		NA	120

HapMap Linkage Disequilibrium report for KCNJ5 (128760140 - 128790930 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KCNJ5: --
Human Gene Mutation Database (HGMD): KCNJ5

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KCNJ5

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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

KCNJ5 for disorders           About GeneDecksing

OMIM gene information: 600734
OMIM disorders: 613485
UniProtKB/Swiss-Prot: IRK5_HUMAN, P48544

Defects in KCNJ5 are the cause of long QT syndrome type 13 (LQT13) [MIM:613485]. It is a heart disorder

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, and can present with a sentinel event of sudden cardiac

death in infancy

Defects in KCNJ5 are the cause of familial hyperaldosteronism type 3 (FH3) [MIM:613677]. A form of

hyperaldosteronism characterized by hypertension secondary to massive adrenal mineralocorticoid production. Like

patients with familial hyperaldosteronism type 1 (glucocorticoid-remediable aldosteronism), patients with FH3 present

with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and

18-hydroxycortisol. However, hypertension and aldosteronism are not reversed by administration of exogenous

glucocorticoids and patients require adrenalectomy to control hypertension

Note=Somatic mutations in KCNJ5 have been found in aldosterone-producing adrenal adenomas and can be

responsible for aldosteronism associated with cell autonomous proliferation. These are typically solitary, well

circumscribed tumors diagnosed between ages 30 and 70. They come to medical attention due to new or worsening

hypertension, often with hypokalemia. KCNJ5 mutations produce increased sodium conductance and cell depolarization,

which in adrenal glomerulosa cells produces calcium entry, the signal for aldosterone production and cell

proliferation

20/52 diseases for KCNJ5 (see all 52): About MalaCards

glucocorticoid-remediable aldosteronism persistent hyperinsulinemic hypoglycemia of infancy long qt syndrome 13 permanent neonatal diabetes mellitus

long qt syndrome hyperinsulinism-hyperammonemia syndrome neonatal diabetes mellitus hyperinsulinemic hypoglycemia

diabetes, permanent neonatal myocardial stunning familial hyperaldosteronism diabetes mellitus

intermittent claudication ventricular fibrillation hypoglycemia of infancy myocardial infarction

acute myocardial infarction hyperaldosteronism type 2 diabetes mellitus hypoglycemia

3 diseases from the University of Copenhagen DISEASES database for KCNJ5:

Conn's syndrome Hyperaldosteronism Adenoma

10/37 Novoseek disease relationships for KCNJ5 gene (see all 37) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
neonatal diabetes mellitus	81.4	6	16885555 (1), 17491708 (1), 18073297 (1), 17476415 (1) (see all 5)
hyperinsulinism	76.1	6	16492972 (1), 18250167 (1), 16357843 (1), 17179930 (1) (see all 6)
myocardial stunning	61	3	8534242 (1), 7646421 (1), 8901700 (1)
ischemia	60.7	11	8763397 (1), 7579841 (1), 11407735 (1), 18708091 (1) (see all 11)
hypoglycemia	53.8	1	12199344 (1)
myocardial ischemia	52.5	21	7923277 (2), 18708091 (2), 9196857 (2), 8111782 (1) (see all 18)
niddm	44.6	4	8904234 (1), 12437993 (1), 9200660 (1), 9748883 (1)
insulinoma	44.1	1	12542400 (1)
arrhythmia	43	6	7923277 (2), 18708091 (2), 8294705 (1), 1417706 (1)
coronary occlusion	42.4	2	15020520 (2)

Human Genome Epidemiology (HuGE) Navigator: KCNJ5 (2 documents)

Export disorders for KCNJ5 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 KCNJ5 gene, integrated from 9 sources (see all 478):
(articles sorted by number of sources associating them with KCNJ5)

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

A G-protein-activated inwardly rectifying K+ channel (GIRK4) from human hippocampus associates with other GIRK channels. (PubMed id 8558261)^{1, 2, 9} Spauschus A....Karschin A. (1996)
KCNJ5 Mutations in European Families With Nonglucocorticoid Remediable Familial Hyperaldosteronism. (PubMed id 22203740)^{1, 2} Mulatero P....Reincke M. (2012)
K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. (PubMed id 21311022)^{1, 2} Choi M....Lifton R.P. (2011)
Identification of a Kir3.4 mutation in congenital lon g QT syndrome. (PubMed id 20560207)^{1, 2} Yang Y....Chen Y.H. (2010)
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)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Co-expression of human Kir3 subunits can yield channels with different functional properties. (PubMed id 10659995)^{1, 2} Schoots O....Van Tol H.H.M. (1999)
Functional characterization and localization of a cardiac-type inwardly rectifying K+ channel. (PubMed id 8834003)^{1, 2} Iizuka M.... Kono T. (1995)
Genetic variation in the inwardly rectifying K channe l subunits KCNJ3 (GIRK1) and KCNJ5 (GIRK4) in patients with sinus node dysfunct ion. (PubMed id 20110696)^{1, 9} Holmegard H.N....Svendsen J.H. (2010)
Assignment of KATP-1, the cardiac ATP-sensitive potassium channel gene (KCNJ5), to human chromosome 11q24. (PubMed id 7590741)^{1, 9} Tucker S.J....Adelman J.P. (1995)

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

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3762	HGNC: 6266	AceView: KCNJ5	Ensembl:ENSG00000120457	euGenes: HUgn3762
ECgene: KCNJ5	H-InvDB: KCNJ5

(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 KCNJ5	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KCNJ5 gene
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Patent Information for KCNJ5 gene:
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GeneCards and IP:
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KCNJ5 Gene

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

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KCNJ5 Gene

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

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