KCNJ6

Protein-coding gene in the species Homo sapiens
KCNJ6
Available structures
PDBOrtholog 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
AliasesKCNJ6, 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 IDsOMIM: 600877 MGI: 104781 HomoloGene: 1688 GeneCards: KCNJ6
Gene location (Human)
Chromosome 21 (human)
Chr.Chromosome 21 (human)[1]
Chromosome 21 (human)
Genomic location for KCNJ6
Genomic location for KCNJ6
Band21q22.13Start37,607,373 bp[1]
End38,121,345 bp[1]
Gene location (Mouse)
Chromosome 16 (mouse)
Chr.Chromosome 16 (mouse)[2]
Chromosome 16 (mouse)
Genomic location for KCNJ6
Genomic location for KCNJ6
Band16 C4|16 55.44 cMStart94,549,495 bp[2]
End94,798,560 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • middle temporal gyrus

  • Brodmann area 23

  • frontal pole

  • postcentral gyrus

  • Brodmann area 46

  • orbitofrontal cortex

  • entorhinal cortex

  • cerebellar vermis

  • Brodmann area 10

  • superior frontal gyrus
Top expressed in
  • superior frontal gyrus

  • pretectal area

  • supraoptic nucleus

  • entorhinal cortex

  • submandibular gland

  • spermatid

  • hippocampus proper

  • primary motor cortex

  • medulla oblongata

  • inferior colliculus
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • G-protein activated inward rectifier potassium channel activity
  • protein binding
  • inward rectifier potassium channel activity
  • voltage-gated ion channel activity
Cellular component
  • integral component of membrane
  • voltage-gated potassium channel complex
  • plasma membrane
  • Golgi apparatus
  • membrane
Biological process
  • potassium ion transport
  • regulation of ion transmembrane transport
  • ion transport
  • transport
  • potassium ion import across plasma membrane
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
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 MbChr 16: 94.55 – 94.8 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

Function

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]

Interactions

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

See also

References

  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. 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.

Further reading

  • Patil N, Cox DR, Bhat D, Faham M, Myers RM, Peterson AS (1995). "A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation". Nat. Genet. 11 (2): 126–9. doi:10.1038/ng1095-126. PMID 7550338. S2CID 23470275.
  • Ferrer J, Nichols CG, Makhina EN, Salkoff L, Bernstein J, Gerhard D, Wasson J, Ramanadham S, Permutt A (1995). "Pancreatic islet cells express a family of inwardly rectifying K+ channel subunits which interact to form G-protein-activated channels". J. Biol. Chem. 270 (44): 26086–91. doi:10.1074/jbc.270.44.26086. PMID 7592809.
  • Tsaur ML, Menzel S, Lai FP, Espinosa R, Concannon P, Spielman RS, Hanis CL, Cox NJ, Le Beau MM, German MS (1995). "Isolation of a cDNA clone encoding a KATP channel-like protein expressed in insulin-secreting cells, localization of the human gene to chromosome band 21q22.1, and linkage studies with NIDDM". Diabetes. 44 (5): 592–6. doi:10.2337/diabetes.44.5.592. PMID 7729621.
  • Lesage F, Duprat F, Fink M, Guillemare E, Coppola T, Lazdunski M, Hugnot JP (1994). "Cloning provides evidence for a family of inward rectifier and G-protein coupled K+ channels in the brain". FEBS Lett. 353 (1): 37–42. doi:10.1016/0014-5793(94)01007-2. PMID 7926018. S2CID 25180672.
  • Liao YJ, Jan YN, Jan LY (1996). "Heteromultimerization of G-protein-gated inwardly rectifying K+ channel proteins GIRK1 and GIRK2 and their altered expression in weaver brain". J. Neurosci. 16 (22): 7137–50. doi:10.1523/JNEUROSCI.16-22-07137.1996. PMC 6578936. PMID 8929423.
  • Signorini S, Liao YJ, Duncan SA, Jan LY, Stoffel M (1997). "Normal cerebellar development but susceptibility to seizures in mice lacking G protein-coupled, inwardly rectifying K+ channel GIRK2". Proc. Natl. Acad. Sci. U.S.A. 94 (3): 923–7. Bibcode:1997PNAS...94..923S. doi:10.1073/pnas.94.3.923. PMC 19615. PMID 9023358.
  • Ohira M, Seki N, Nagase T, Suzuki E, Nomura N, Ohara O, Hattori M, Sakaki Y, Eki T, Murakami Y, Saito T, Ichikawa H, Ohki M (1997). "Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21". Genome Res. 7 (1): 47–58. doi:10.1101/gr.7.1.47. PMID 9037601.
  • Huang CL, Jan YN, Jan LY (1997). "Binding of the G protein betagamma subunit to multiple regions of G protein-gated inward-rectifying K+ channels". FEBS Lett. 405 (3): 291–8. doi:10.1016/S0014-5793(97)00197-X. PMID 9108307. S2CID 44072628.
  • Dahmane N, Ghezala GA, Gosset P, Chamoun Z, Dufresne-Zacharia MC, Lopes C, Rabatel N, Gassanova-Maugenre S, Chettouh Z, Abramowski V, Fayet E, Yaspo ML, Korn B, Blouin JL, Lehrach H, Poutska A, Antonarakis SE, Sinet PM, Créau N, Delabar JM (1998). "Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome". Genomics. 48 (1): 12–23. doi:10.1006/geno.1997.5146. PMID 9503011.
  • Inanobe A, Horio Y, Fujita A, Tanemoto M, Hibino H, Inageda K, Kurachi Y (2000). "Molecular cloning and characterization of a novel splicing variant of the Kir3.2 subunit predominantly expressed in mouse testis". J. Physiol. 521. Pt 1 (Pt 1): 19–30. doi:10.1111/j.1469-7793.1999.00019.x. PMC 2269641. PMID 10562331.
  • Hibino H, Inanobe A, Tanemoto M, Fujita A, Doi K, Kubo T, Hata Y, Takai Y, Kurachi Y (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.
  • Schoots O, Wilson JM, Ethier N, Bigras E, Hebert TE, Van Tol HH (2000). "Co-expression of human Kir3 subunits can yield channels with different functional properties". Cell. Signal. 11 (12): 871–83. doi:10.1016/S0898-6568(99)00059-5. PMID 10659995.
  • Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. Bibcode:2000Natur.405..311H. doi:10.1038/35012518. PMID 10830953.
  • Jelacic TM, Kennedy ME, Wickman K, Clapham DE (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.
  • Chen L, Kawano T, Bajic S, Kaziro Y, Itoh H, Art JJ, Nakajima Y, Nakajima S (2002). "A glutamate residue at the C terminus regulates activity of inward rectifier K+ channels: implication for Andersen's syndrome". Proc. Natl. Acad. Sci. U.S.A. 99 (12): 8430–5. Bibcode:2002PNAS...99.8430C. doi:10.1073/pnas.122682899. PMC 123084. PMID 12034888.
  • Lavine N, Ethier N, Oak JN, Pei L, Liu F, Trieu P, Rebois RV, Bouvier M, Hebert TE, Van Tol HH (2003). "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.
  • Ivanina T, Rishal I, Varon D, Mullner C, Frohnwieser-Steinecke B, Schreibmayer W, Dessauer CW, Dascal N (2003). "Mapping the Gbetagamma-binding sites in GIRK1 and GIRK2 subunits of the G protein-activated K+ channel". J. Biol. Chem. 278 (31): 29174–83. doi:10.1074/jbc.M304518200. PMID 12743112.

External links

  • KCNJ6+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
  • Overview of all the structural information available in the PDB for UniProt: P48542 (Mouse G protein-activated inward rectifier potassium channel 2) at the PDBe-KB.

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

  • v
  • t
  • e
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 also disorders