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KCNJ6

  • ️Thu Feb 05 2015
KCNJ6
Available structures
PDB Ortholog search: PDBe RCSB
List of PDB id codes

2E4F, 3AGW, 3AT8, 3AT9, 3ATA, 3ATB, 3ATD, 3ATE, 3ATF, 3AUW, 3SYA, 3SYC, 3SYO, 3SYP, 3SYQ, 3VSQ, 4KFM
Identifiers
Aliases KCNJ6, BIR1, GIRK-2, GIRK2, KATP-2, KATP2, KCNJ7, KIR3.2, hiGIRK2, KPLBS, potassium voltage-gated channel subfamily J member 6, potassium inwardly rectifying channel subfamily J member 6
External IDs OMIM: 600877; MGI: 104781; HomoloGene: 1688; GeneCards: KCNJ6; OMA:KCNJ6 - orthologs
Gene location (Human)
Chromosome 21 (human)
Chr. Chromosome 21 (human)[1]

Chromosome 21 (human)

Genomic location for KCNJ6

Genomic location for KCNJ6

Band 21q22.13 Start 37,607,373 bp[1]
End 38,121,345 bp[1]
Gene location (Mouse)
Chromosome 16 (mouse)
Chr. Chromosome 16 (mouse)[2]

Chromosome 16 (mouse)

Genomic location for KCNJ6

Genomic location for KCNJ6

Band 16 C4|16 55.44 cM Start 94,549,495 bp[2]
End 94,798,560 bp[2]
RNA expression pattern
Bgee
Human Mouse (ortholog)
Top expressed in
  • pars reticulata

  • pars compacta

  • middle temporal gyrus

  • Brodmann area 23

  • frontal pole

  • postcentral gyrus

  • Brodmann area 46

  • orbitofrontal cortex

  • entorhinal cortex

  • cerebellar vermis
Top expressed in
  • dentate gyrus of hippocampal formation granule cell

  • lumbar subsegment of spinal cord

  • primary visual cortex

  • superior frontal gyrus

  • pretectal area

  • gastrula

  • blastocyst

  • CA3 field

  • lumbar spinal ganglion

  • supraoptic nucleus
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
Species Human Mouse
Entrez

3763

16522
Ensembl

ENSG00000157542

ENSMUSG00000043301
UniProt

P48051

P48542
RefSeq (mRNA)

NM_002240

NM_001025584
NM_001025585
NM_001025590
NM_010606
RefSeq (protein)

NP_002231

NP_001020755
NP_001020756
NP_001020761
NP_034736
Location (UCSC) Chr 21: 37.61 – 38.12 Mb Chr 16: 94.55 – 94.8 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

G protein-activated inward rectifier potassium channel 2 is a protein that in humans is encoded by the KCNJ6 gene.[5][6][7] Mutation in KCNJ6 gene has been proposed to be the cause of Keppen-Lubinsky Syndrome (KPLBS). [8]

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 and may be involved in the regulation of insulin secretion by glucose. It associates with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex.[7]

KCNJ6 has been shown to interact with KCNJ9[9][10] and DLG1.[11]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000157542 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000043301 – Ensembl, 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. ^ Sakura H, Bond C, Warren-Perry M, Horsley S, Kearney L, Tucker S, Adelman J, Turner R, Ashcroft FM (August 1995). "Characterization and variation of a human inwardly-rectifying-K-channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit". FEBS Lett. 367 (2): 193–7. Bibcode:1995FEBSL.367..193S. doi:10.1016/0014-5793(95)00498-X. PMID 7796919. S2CID 21441896.
  6. ^ Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, Lazdunski M, Nichols CG, Seino S, Vandenberg CA (December 2005). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". Pharmacol Rev. 57 (4): 509–26. doi:10.1124/pr.57.4.11. PMID 16382105. S2CID 11588492.
  7. ^ a b "Entrez Gene: KCNJ6 potassium inwardly-rectifying channel, subfamily J, member 6".
  8. ^ Masotti A, Uva P, Davis-Keppen L, Basel-Vanagaite L, Cohen L, Pisaneschi E, Celluzzi A, Bencivenga P, Fang M (2015-02-05). "Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6". The American Journal of Human Genetics. 96 (2): 295–300. doi:10.1016/j.ajhg.2014.12.011. ISSN 0002-9297. PMC 4320262. PMID 25620207.
  9. ^ Jelacic TM, Kennedy ME, Wickman K, Clapham DE (November 2000). "Functional and biochemical evidence for G-protein-gated inwardly rectifying K+ (GIRK) channels composed of GIRK2 and GIRK3". J. Biol. Chem. 275 (46): 36211–6. doi:10.1074/jbc.M007087200. PMID 10956667.
  10. ^ Lavine N, Ethier N, Oak JN, Pei L, Liu F, Trieu P, Rebois RV, Bouvier M, Hebert TE, Van Tol HH (November 2002). "G protein-coupled receptors form stable complexes with inwardly rectifying potassium channels and adenylyl cyclase". J. Biol. Chem. 277 (48): 46010–9. doi:10.1074/jbc.M205035200. PMID 12297500.
  11. ^ Hibino H, Inanobe A, Tanemoto M, Fujita A, Doi K, Kubo T, Hata Y, Takai Y, Kurachi Y (January 2000). "Anchoring proteins confer G protein sensitivity to an inward-rectifier K(+) channel through the GK domain". EMBO J. 19 (1): 78–83. doi:10.1093/emboj/19.1.78. PMC 1171779. PMID 10619846.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.