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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KCNJ8 Gene

protein-coding GIFtS: 64
GCID: GC12M021818

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

Explore 11 diseases affiliated with
KCNJ8 via

MalaCards

our new
Human Malady Compendium

(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 8¹ ²		Kir6.1¹
Inward Rectifier K(+) Channel Kir6.1² ³		KIR6.1²
Potassium Channel, Inwardly Rectifying Subfamily J Member 8² ³		ATP-Sensitive Inward Rectifier Potassium Channel 8²
UKATP-1¹		Inwardly Rectifying Potassium Channel KIR6.1²

External Ids:	HGNC: 6269¹	Entrez Gene: 3764²	Ensembl: ENSG00000121361⁷	OMIM: 600935⁵	UniProtKB: Q15842³

Export aliases for KCNJ8 gene to outside databases

Previous GC identifers: GC12M022204 GC12M021920 GC12M021809 GC12M021692

(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 KCNJ8:

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. Defects in this gene may be a cause of J-wave syndromes and sudden infant death

syndrome (SIDS). (provided by RefSeq, May 2012)

UniProtKB/Swiss-Prot: IRK8_HUMAN, Q15842

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 (By similarity)

summary for KCNJ8:

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 KCNJ8

(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_000012.11 NC_018923.1 NT_009714.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KCNJ8 gene promoter:
HOXA9B HOXA9 GR ISGF-3 Olf-1 Gfi-1 PPAR-gamma2 GR-alpha Meis-1a Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KCNJ8 promoter sequence

Search SABiosciences Chromatin IP Primers for KCNJ8

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNJ8

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

Entrez Gene cytogenetic band: 12p11.23 Ensembl cytogenetic band: 12p12.1 HGNC cytogenetic band: 12p12.1

KCNJ8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNJ8 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M021818: view genomic region (about GC identifiers)

Start:	21,917,889 bp from pter	End:	21,928,515 bp from pter
Size:	10,627 bases	Orientation:	minus 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: IRK8_HUMAN, Q15842 (See protein sequence)

Recommended Name: ATP-sensitive inward rectifier potassium channel 8

Size: 424 amino acids; 47968 Da

Subcellular location: Membrane; Multi-pass membrane protein

Secondary accessions: O00657

Explore the universe of human proteins at neXtProt for KCNJ8: NX_Q15842

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q15842

KCNJ8 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004973.1

ENSEMBL proteins:

ENSP00000240662 ENSP00000440012 ENSP00000443381

Reactome Protein details: Q15842
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	Uscn Proteins for KCNJ8

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005739	mitochondrion	IEA	--
GO:0005792	microsome	--	--
GO:0005886	plasma membrane	TAS	--
GO:0008076	voltage-gated potassium channel complex	TAS	7890693

KCNJ8 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

KCNJ8 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

IPR003278 K_chnl_inward-rec_Kir6.1

Graphical View of Domain Structure for InterPro Entry Q15842

ProtoNet protein and cluster: Q15842

2 Blocks protein families:

IPB001838 Inward rectifier K+ channel superfamily signature

IPB003278 Kir6.1 inward rectifier K+ channel signature

UniProtKB/Swiss-Prot: IRK8_HUMAN, Q15842

Similarity: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ8 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: IRK8_HUMAN, Q15842

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 (By similarity)

Genatlas biochemistry entry for KCNJ8:

potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 8,involved in the regulation of membrane

potential,preferentially expressed in the heart,component with SER2 of an ATP dependent potassium channel

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNJ8

Gene Ontology (GO): 4 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	TAS	7890693
GO:0005515	protein binding	--	--
GO:0005524	ATP binding	IEA	--
GO:0015272	ATP-activated inward rectifier potassium channel activity	IEA	--

KCNJ8 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for KCNJ8:

Small cells

Animal Models:
Mouse knock-out Kcnj8^tm1Sse for KCNJ8
3 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Kcnj8):

cardiovascular system

immune system

mortality/aging

KCNJ8 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 - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

1.00

Potassium Channels

Potassium Channels

1.00

ATP sensitive Potassium channels

ATP sensitive Potassium channels

1.00

Antiarrhythmic Pathway, Pharmacodynamics

Antiarrhythmic Pathway, Pharmacodynamics

1.00

Potassium transporters: inward current

Potassium transporters: inward current

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for KCNJ8

Potassium transporters- inward current

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNJ8

Dopamine-DARPP32 Feedback onto cAMP Pathway

1 GeneGo (Thomson Reuters) Pathway for KCNJ8

CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

1 BioSystems Pathway for KCNJ8

SIDS Susceptibility Pathways

4 Reactome Pathways for KCNJ8

	ATP sensitive Potassium channels
	Potassium Channels
	Neuronal System
	Inwardly rectifying K+ channels

1 PharmGKB Pathway for KCNJ8

Antiarrhythmic Pathway, Pharmacodynamics

KCNJ8 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for KCNJ8

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

5 Interacting proteins for KCNJ8 (Q15842³ ENSP00000240662⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
KCNJ2	P63252³, ENSP00000243457⁴	I2D: score=1 STRING: ENSP00000243457
ABCC8	Q09428³, ENSP00000374467⁴	I2D: score=1 STRING: ENSP00000374467
ABCC9	O60706³, ENSP00000261200⁴	I2D: score=1 STRING: ENSP00000261200
KCNJ11	ENSP00000345708⁴	STRING: ENSP00000345708
--	B2RC52³	I2D: score=2

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001822	kidney development	IEA	--
GO:0006813	potassium ion transport	TAS	7890693
GO:0007268	synaptic transmission	TAS	--
GO:0007507	heart development	IEA	--
GO:0009268	response to pH	IEA	--

KCNJ8 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

KCNJ8 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for KCNJ8 available from Tocris Bioscience About this table

Compound	Action	CAS #
Repaglinide	KATP channel blocker	[135062-02-1]
Diazoxide	Blocks desensitization of AMPA receptors	[364-98-7]
Y-27152	Prodrug of KATP channel opener Y-26763 (Cat. No. 2076); orally active in vivo	[127408-30-4]
PNU 37883 hydrochloride	Vascular KATP channel blocker	[57568-80-6]
Nateglinide	KATP blocker; displays high affinity for SUR1/Kir6.2 channels	[105816-04-4]

1 HMDB Compound for KCNJ8 About this table

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

5 DrugBank Compounds for KCNJ8 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Gliquidone	--	33342-05-1	target	inhibitor	16174795 9015372 12670661
Thiamylal	--	77-27-0	target	inhibitor	14739809 10754636 15852621
Glisoxepide	--	25046-79-1	target	inhibitor	16174795 9015372
Levosimendan	--	141505-33-1	target	inducer	17452812
Phenformin	Beta-Pebg (see all 17)	114-86-3	target	inhibitor	20188727

6 Novoseek chemical compound relationships for KCNJ8 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
katp	90.7	45	11749042 (4), 15380676 (3), 12015420 (3), 14729507 (2) (see all 26)
sulfonylurea	86.8	13	14739809 (1), 15525587 (1), 19607836 (1), 10194514 (1) (see all 11)
potassium	70	11	14739809 (1), 15525587 (1), 18708091 (1), 8595887 (1) (see all 8)
glibenclamide	69.7	1	16478818 (1)
diazoxide	69.2	2	16478818 (1), 8865068 (1)
atp	41.3	17	9130167 (3), 9763630 (3), 18522960 (2), 18708091 (1) (see all 7)

Search CenterWatch for drugs/clinical trials and news about KCNJ8 / IRK8

(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 KCNJ8 gene:

NM_004982.3

Unigene Cluster for KCNJ8:

Potassium inwardly-rectifying channel, subfamily J, member 8

Hs.102308 [show with all ESTs]

Unigene Representative Sequence: NM_004982

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

ENST00000240662(uc001rff.3) ENST00000537950 ENST00000539350

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Additional cDNA sequence:

AK291821.1 BC000544.2 D50312.1

3 DOTS entries:

DT.310323 DT.100702360 DT.121210352

24/64 AceView cDNA sequences (see all 64):

AL546327 CA435673 BX115640 AW015180 BC000544 CR593376 AI863541 BM993933

CR605484 D50312 NM_004982 BQ003792 AA040299 BF514158 AI468279 BQ009215

AA436184 AL571706 AW027504 AI624449 BE465914 AW013831 BX350117 AL548865

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

KCNJ8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACAGCAAGAT

About this image

KCNJ8 expression in embryonic tissues and stem cells

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

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lateral Plate Mesoderm

Splanchnic Mesoderm

Pericytes

Selective marker (cell-identifying gene)

Pericytes

Kidney

Reproductive System

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)

Intermediate Mesoderm, Kidney

Alveolar type II cells (Derivation of mature...)

Lung

See KCNJ8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KCNJ8

SOURCE GeneReport for Unigene cluster: Hs.102308

UniProtKB/Swiss-Prot: IRK8_HUMAN, Q15842

Tissue specificity: Predominantly detected in fetal and adult heart

SABiosciences Expression via Pathway-Focused PCR Array including KCNJ8:

Hypertension 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 KCNJ8 gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	KCNJ8¹	potassium inwardly-rectifying channel, subfamily J, more	80.92(n) 90.74(a)		395973 XM_416431.2 XP_416431.1
lizard (Anolis carolinensis)	Reptilia	KCNJ8⁶	--	89(a)	1 ↔ 1	5(6456777-6459466)
zebrafish (Danio rerio)	Actinopterygii	kcnj8¹	potassium inwardly-rectifying channel, subfamily J, more	71.44(n) 80.83(a)		561090 NM_001030153.1 NP_001025324.1
fruit fly (Drosophila melanogaster)	Insecta	Irk2³	G-protein activated inward rectifier potassium more	46(a) (best of 2)		95A1 --
worm (Caenorhabditis elegans)	Secernentea	irk-2⁶ irk-1⁶ (see all 3)	Inward rectifier potassium channel irk-1 (see all 3)	34(a) 28(a) (see all 3)	possible ortholog possible ortholog (see all 3)	X(702973-710006) X(6767207-6771606)

ENSEMBL Gene Tree for KCNJ8 (if available)
TreeFam Gene Tree for KCNJ8 (if available)

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

Paralogs for KCNJ8 gene

KCNJ4² KCNJ9² KCNJ16² KCNJ1² KCNJ15² KCNJ12² KCNJ5² KCNJ6²

KCNJ2² KCNJ10² KCNJ14² KCNJ3² KCNJ11²

16 SIMAP similar genes for KCNJ8 using alignment to 2 protein entries: IRK8_HUMAN (see all proteins):

KCNJ11 KCNJ3 KCNJ5 KCNJ12 KCNJ18 KCNJ6

KCNJ9 KCNJ1 kcnj12x KCNJ4 KCNJ2 KCNJ14

KCNJ16 KCNJ15 KCNJ10 KCNJ13

KCNJ8 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 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs148300581^1,2		--	21917508(+)	`ACTAAA/TTATGC`	1	--	ds500¹		0	--	--	--	--
rs199578298^1,2	C	--	21917649(-)	`TAAGCC/TTTTTT`	1	--	ds500¹		0	--	--	--	--
rs150437769^1,2		--	21917765(+)	`CAGACC/TTGAGA`	1	--	ds500¹		0	--	--	--	--
rs192000123^1,2		--	21917805(+)	`TTTGAC/TATCTC`	1	--	ds500¹		0	--	--	--	--
rs7295420^1,2	C,F,A,H,	--	21918026(+)	`TTCCTT/CCAAAG`	1	--	ut3¹ ese³		12		NS EA WA NA CSA	1308
rs138258592^1,2		--	21918046(+)	`CCAGCC/TCTGCC`	1	--	ut3¹		0	--	--	--	--
rs184191514^1,2		--	21918055(+)	`CCCAAC/TAGGCC`	1	--	ut3¹		0	--	--	--	--
rs7309783^1,2	C,F,H,	--	21918185(+)	`TTATCA/TTGGAG`	1	--	ut3¹		8		NS EA WA CSA	544
rs149606569^1,2		--	21918199(+)	`GGAGAA/CGGCTG`	1	--	ut3¹		0	--	--	--	--
rs147302576^1,2		--	21918241(+)	`TTTCCA/CCTCCT`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KCNJ8 (21917889 - 21928515 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for KCNJ8
1 CNV: 4772
Human Gene Mutation Database (HGMD): KCNJ8

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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.)
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KCNJ8 for disorders About GeneDecksing

OMIM gene information: 600935 OMIM disorders: --

UniProtKB/Swiss-Prot: IRK8_HUMAN, Q15842

Note=Defects in KCNJ8 may be associated with susceptibility to J-wave syndromes, a group of heart disorders

characterized by early repolarization events as indicated by abnormal J-wave manifestation on electrocardiogram (ECG).

The J point denotes the junction of the QRS complex and the ST segment on the ECG, marking the end of depolarization

and the beginning of repolarization. An abnormal J wave is a deflection with a dome or hump morphology immediately

following the QRS complex of the surface ECG. Examples of J-wave disorders are arrhythmias associated with an early

repolarization pattern in the inferior or mid to lateral precordial leads, Brugada syndrome, some cases of idiopathic

ventricular fibrillation (VF) with an early repolarization pattern in the inferior, inferolateral or global leads, as

well as arrhythmias associated with hypothermia

Defects in KCNJ8 may be a cause of susceptibility to sudden infant death syndrome (SIDS) [MIM:272120]. SIDS is

the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation,

including performance of a complete autopsy, examination of the death scene, and review of clinical history.

Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory

instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden

death remain elusive

11 diseases for KCNJ8: About MalaCards

sudden infant death syndrome prinzmetal angina myocardial infarction acute myocardial infarction

spasticity leiomyoma hypoxia retinitis

pancreatitis prostatitis neuronitis

1 Novoseek disease relationship for KCNJ8 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ischemia	13.7	1	20212266 (1)

Human Genome Epidemiology (HuGE) Navigator: KCNJ8 (2 documents)

Export disorders for KCNJ8 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 KCNJ8 gene, integrated from 9 sources (see all 80):
(articles sorted by number of sources associating them with KCNJ8)

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

cDNA sequence, gene structure, and chromosomal localization of the human ATP-sensitive potassium channel, uKATP-1, gene (KCNJ8). (PubMed id 8595887)^{1, 2, 3, 9} Inagaki N.... Seino S. (1995)
Loss-of-function mutations in the KCNJ8-encoded Kir6.1 KATP channel and sudden infant death syndrome. (PubMed id 21836131)^{1, 2} Tester D.J....Ackerman M.J. (2011)
Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. (PubMed id 20558321)^{1, 2} Medeiros-Domingo A....Ackerman M.J. (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)
Genomic organization and expression of KCNJ8/Kir6.1, a gene encoding a subunit of an ATP-sensitive potassium channel. (PubMed id 9573340)^{1, 2} Erginel-Unaltuna N....Blanar M.A. (1998)
Molecular basis and characteristics of KATP channel in human corporal smooth muscle cells. (PubMed id 12934053)^{1, 9} Insuk S.O....Lee S.W. (2003)
Genes controlling postural changes in blood pressure: comprehensive association analysis of ATP-sensitive potassium channel genes KC NJ8 and ABCC9. (PubMed id 19952277)^{1, 9} Ellis J.A....Harrap S.B. (2010)
Expression of mRNA transcripts for ATP-sensitive potassium channels in human myometrium. (PubMed id 12356945)^{1, 9} Curley M....Smith T.J. (2002)
Protein kinase C-epsilon induces caveolin-dependent internalization of vascular adenosine 5'-triphosphate-sensitive K+ channels. (PubMed id 18663158)^{1, 9} Jiao J....Hu K. (2008)

(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: 3764	HGNC: 6269	AceView: KCNJ8	Ensembl:ENSG00000121361	euGenes: HUgn3764
ECgene: KCNJ8	H-InvDB: KCNJ8

(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 KCNJ8	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KCNJ8 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for KCNJ8 gene:
Search GeneIP for patents involving KCNJ8

GeneCards and IP:
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