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Aliases for KCNJ8 Gene

Aliases for KCNJ8 Gene

  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 8 2 3
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 8 2 3
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 8 3 4
  • Inward Rectifier K(+) Channel Kir6.1 3 4
  • UKATP-1 3 4
  • ATP-Sensitive Inward Rectifier Potassium Channel 8 3
  • Inwardly Rectifying Potassium Channel KIR6.1 3
  • KIR6.1 3

External Ids for KCNJ8 Gene

Previous GeneCards Identifiers for KCNJ8 Gene

  • GC12M022204
  • GC12M021920
  • GC12M021818
  • GC12M021809
  • GC12M021692
  • GC12M021917

Summaries for KCNJ8 Gene

Entrez Gene Summary for KCNJ8 Gene

  • 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]

GeneCards Summary for KCNJ8 Gene

KCNJ8 (Potassium Channel, Inwardly Rectifying Subfamily J, Member 8) is a Protein Coding gene. Diseases associated with KCNJ8 include hypertrichotic osteochondrodysplasia and sudden infant death syndrome. Among its related pathways are SIDS Susceptibility Pathways and Transmission across Chemical Synapses. GO annotations related to this gene include inward rectifier potassium channel activity and ATP-activated inward rectifier potassium channel activity. An important paralog of this gene is KCNJ3.

UniProtKB/Swiss-Prot for KCNJ8 Gene

  • 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).

Tocris Summary for KCNJ8 Gene

  • 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 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ8 Gene

Genomics for KCNJ8 Gene

Regulatory Elements for KCNJ8 Gene

Genomic Location for KCNJ8 Gene

Start:
21,764,955 bp from pter
End:
21,775,581 bp from pter
Size:
10,627 bases
Orientation:
Minus strand

Genomic View for KCNJ8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNJ8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNJ8 Gene

Proteins for KCNJ8 Gene

  • Protein details for KCNJ8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15842-KCNJ8_HUMAN
    Recommended name:
    ATP-sensitive inward rectifier potassium channel 8
    Protein Accession:
    Q15842
    Secondary Accessions:
    • O00657

    Protein attributes for KCNJ8 Gene

    Size:
    424 amino acids
    Molecular mass:
    47968 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KCNJ8 Gene

Proteomics data for KCNJ8 Gene at MOPED

Post-translational modifications for KCNJ8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNJ8 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNJ8 Gene

Domains for KCNJ8 Gene

Gene Families for KCNJ8 Gene

HGNC:
  • KCN :Potassium channels
  • KCNJ :Voltage-gated ion channels / Potassium channels, Inwardly rectifying
IUPHAR :

Suggested Antigen Peptide Sequences for KCNJ8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15842

UniProtKB/Swiss-Prot:

KCNJ8_HUMAN :
  • Q15842
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ8 subfamily.
genes like me logo Genes that share domains with KCNJ8: view

Function for KCNJ8 Gene

Molecular function for KCNJ8 Gene

GENATLAS Biochemistry: 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
UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for KCNJ8 Gene

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 IBA --
GO:0015467 NOT G-protein activated inward rectifier potassium channel activity IBA --
genes like me logo Genes that share ontologies with KCNJ8: view

Phenotypes for KCNJ8 Gene

MGI mutant phenotypes for KCNJ8:
inferred from 6 alleles
GenomeRNAi human phenotypes for KCNJ8:
genes like me logo Genes that share phenotypes with KCNJ8: view

Animal Models for KCNJ8 Gene

MGI Knock Outs for KCNJ8:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for KCNJ8 Gene

Localization for KCNJ8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ8 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNJ8 Gene COMPARTMENTS Subcellular localization image for KCNJ8 gene
Compartment Confidence
plasma membrane 4
mitochondrion 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KCNJ8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex TAS 7890693
GO:0008282 ATP-sensitive potassium channel complex IEA --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with KCNJ8: view

Pathways for KCNJ8 Gene

genes like me logo Genes that share pathways with KCNJ8: view

Pathways by source for KCNJ8 Gene

1 PharmGKB pathway for KCNJ8 Gene
1 GeneGo (Thomson Reuters) pathway for KCNJ8 Gene

Gene Ontology (GO) - Biological Process for KCNJ8 Gene

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 --
genes like me logo Genes that share ontologies with KCNJ8: view

Compounds for KCNJ8 Gene

(5) Tocris Compounds for KCNJ8 Gene

Compound Action Cas Number
Glibenclamide Kir6 (KATP) channel blocker [10238-21-8]
Levcromakalim Kir6 (KATP) channel opener; active enantiomer of cromakalim (Cat. No. 1377) [94535-50-9]
ML 133 hydrochloride Kir2 channel blocker [1222781-70-5]
Tertiapin-Q Selective blocker of inward-rectifier K+ channels [252198-49-5]
VU 590 dihydrochloride Inhibitor of Kir1.1 (ROMK) and Kir7.1 [313505-85-0]

(1) HMDB Compounds for KCNJ8 Gene

Compound Synonyms Cas Number PubMed IDs
Magnesium
  • Magnesium
7439-95-4

(5) Drugbank Compounds for KCNJ8 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Gliquidone
33342-05-1 target inhibitor
Glisoxepide
25046-79-1 target inhibitor
Levosimendan
141505-33-1 target inducer
Phenformin
  • Beta-Pebg
114-86-3 target inhibitor
Thiamylal
77-27-0 target inhibitor

(6) IUPHAR Ligand for KCNJ8 Gene

Ligand Type Action Affinity Pubmed IDs
minoxidil Activator None
nicorandil Activator None
glibenclamide Inhibitor Inhibition
diazoxide Activator None
tolbutamide Inhibitor None
cromakalim Activator None

(6) Novoseek inferred chemical compound relationships for KCNJ8 Gene

Compound -log(P) Hits PubMed IDs
katp 90.7 36
sulfonylurea 86.8 11
potassium 70 8
glibenclamide 69.7 1
diazoxide 69.2 2
genes like me logo Genes that share compounds with KCNJ8: view

Transcripts for KCNJ8 Gene

mRNA/cDNA for KCNJ8 Gene

(64) Selected AceView cDNA sequences:
(3) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNJ8 Gene

Potassium inwardly-rectifying channel, subfamily J, member 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ8 Gene

No ASD Table

Relevant External Links for KCNJ8 Gene

GeneLoc Exon Structure for
KCNJ8
ECgene alternative splicing isoforms for
KCNJ8

Expression for KCNJ8 Gene

mRNA expression in normal human tissues for KCNJ8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNJ8 Gene

This gene is overexpressed in Heart - Left Ventricle (6.0).

SOURCE GeneReport for Unigene cluster for KCNJ8 Gene Hs.102308

mRNA Expression by UniProt/SwissProt for KCNJ8 Gene

Q15842-KCNJ8_HUMAN
Tissue specificity: Predominantly detected in fetal and adult heart.
genes like me logo Genes that share expressions with KCNJ8: view

No data available for Protein expression for KCNJ8 Gene

Orthologs for KCNJ8 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNJ8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNJ8 35
  • 99.84 (n)
  • 100 (a)
KCNJ8 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNJ8 35
  • 91.12 (n)
  • 99.76 (a)
KCNJ8 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNJ8 35
  • 92.69 (n)
  • 99.76 (a)
KCNJ8 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnj8 35
  • 89.47 (n)
  • 98.35 (a)
Kcnj8 16
Kcnj8 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNJ8 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ8 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnj8 35
  • 88.76 (n)
  • 97.64 (a)
chicken
(Gallus gallus)
Aves KCNJ8 35
  • 80.92 (n)
  • 90.74 (a)
KCNJ8 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNJ8 36
  • 89 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii kcnj8 35
  • 71.44 (n)
  • 80.83 (a)
kcnj8 36
  • 80 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001284 35
  • 50.05 (n)
  • 45.97 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ir 36
  • 31 (a)
ManyToMany
Irk2 36
  • 36 (a)
ManyToMany
Irk2 37
  • 46 (a)
Irk3 37
  • 35 (a)
Species with no ortholog for KCNJ8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KCNJ8 Gene

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

Paralogs for KCNJ8 Gene

Selected SIMAP similar genes for KCNJ8 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KCNJ8: view

Variants for KCNJ8 Gene

Sequence variations from dbSNP and Humsavar for KCNJ8 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs704173 -- 21,769,628(+) attct(A/G)gatgc intron-variant
rs704174 -- 21,770,743(+) ACAAC(A/G)AGTAC intron-variant
rs1069915 -- 21,769,180(+) catca(A/C)gttga intron-variant
rs7133951 -- 21,767,903(+) cacaa(A/G)atttc intron-variant
rs7295420 -- 21,765,092(+) TTCCT(C/T)CAAAG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KCNJ8 Gene

Variant ID Type Subtype PubMed ID
nsv832349 CNV Gain 17160897

Relevant External Links for KCNJ8 Gene

HapMap Linkage Disequilibrium report
KCNJ8
Human Gene Mutation Database (HGMD)
KCNJ8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ8 Gene

Disorders for KCNJ8 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for KCNJ8 Gene including...

Search for KCNJ8 Gene in MalaCards »

UniProtKB/Swiss-Prot

KCNJ8_HUMAN
  • 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.
  • 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. {ECO:0000269 PubMed:21836131}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for KCNJ8 Gene

Disease -log(P) Hits PubMed IDs
ischemia 13.7 1

Relevant External Links for KCNJ8

Genetic Association Database (GAD)
KCNJ8
Human Genome Epidemiology (HuGE) Navigator
KCNJ8
genes like me logo Genes that share disorders with KCNJ8: view

Publications for KCNJ8 Gene

  1. cDNA sequence, gene structure, and chromosomal localization of the human ATP-sensitive potassium channel, uKATP-1, gene (KCNJ8). (PMID: 8595887) Inagaki N. … Seino S. (Genomics 1995) 2 3 4 23
  2. Genes controlling postural changes in blood pressure: comprehensive association analysis of ATP-sensitive potassium channel genes KCNJ8 and ABCC9. (PMID: 19952277) Ellis J.A. … Harrap S.B. (Physiol. Genomics 2010) 3 23 48
  3. Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. (PMID: 20558321) Medeiros-Domingo A. … Ackerman M.J. (Heart Rhythm 2010) 3 4 48
  4. Protein kinase C-epsilon induces caveolin-dependent internalization of vascular adenosine 5'-triphosphate-sensitive K+ channels. (PMID: 18663158) Jiao J. … Hu K. (Hypertension 2008) 3 23
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for KCNJ8 Gene

Sources for KCNJ8 Gene

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