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KCNJ8

From Wikipedia, the free encyclopedia
Protein-coding gene in humans

KCNJ8
Identifiers
AliasesKCNJ8, KIR6.1, uKATP-1, potassium voltage-gated channel subfamily J member 8, potassium inwardly rectifying channel subfamily J member 8
External IDsOMIM:600935;MGI:1100508;HomoloGene:3654;GeneCards:KCNJ8;OMA:KCNJ8 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for KCNJ8
Genomic location for KCNJ8
Band12p12.1Start21,764,955bp[1]
End21,775,600bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for KCNJ8
Genomic location for KCNJ8
Band6 G2|6 74.31 cMStart142,510,563bp[2]
End142,517,340bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right ventricle

  • myocardium of left ventricle

  • apex of heart

  • body of pancreas

  • right lobe of liver

  • right auricle of heart

  • gastric mucosa

  • pericardium

  • subcutaneous adipose tissue

  • visceral pleura
Top expressed in
  • internal carotid artery

  • ascending aorta

  • molar

  • aortic valve

  • myocardium of ventricle

  • migratory enteric neural crest cell

  • digastric muscle

  • cardiac muscles

  • external carotid artery

  • interventricular septum
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

3764

16523

Ensembl

ENSG00000121361

ENSMUSG00000030247

UniProt

Q15842

P97794

RefSeq (mRNA)

NM_004982

NM_008428
NM_001330363
NM_001330366

RefSeq (protein)

NP_004973

NP_001317292
NP_001317295
NP_032454

Location (UCSC)Chr 12: 21.76 – 21.78 MbChr 6: 142.51 – 142.52 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Potassium inwardly-rectifying channel, subfamily J, member 8, also known asKCNJ8, is a humangene encoding theKir6.1protein.[5] Amutation in KCNJ8 has been associated withcardiac arrest in the early repolarization syndrome.

Potassium channels are present in mostmammalian cells, where they participate in a wide range of physiologic responses. Kir6.1 is an integralmembrane protein and inward-rectifier type potassium channel. Kir6.1, which has a greater tendency to allowpotassium to flow into a cell rather than out of a cell, is controlled byG-proteins.[5]

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000121361Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000030247Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ab"Entrez Gene: KCNJ8 potassium inwardly-rectifying channel, subfamily J, member 8".

Further reading

[edit]

External links

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

Ligand-gated
Voltage-gated
Constitutively active
Proton-gated
Voltage-gated
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl:Chloride channel
H+:Proton channel
M+:CNG cation channel
M+:TRP cation channel
H2O (+solutes):Porin
Cytoplasm:Gap junction
By gating mechanism
Ion channel class
see alsodisorders
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