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KCNJ6

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

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)

Chr.	Chromosome 21 (human)^[1]

Band	21q22.13	Start	37,607,373bp^[1]
Band	21q22.13	End	38,121,345bp^[1]

Gene location (Mouse)

Chr.	Chromosome 16 (mouse)^[2]

Band	16 C4\|16 55.44 cM	Start	94,549,495bp^[2]
Band	16 C4\|16 55.44 cM	End	94,798,560bp^[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	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

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 aprotein that in humans is encoded by theKCNJ6gene.^[5]^[6]^[7] Mutation in KCNJ6 gene has been proposed to be the cause ofKeppen-Lubinsky Syndrome (KPLBS).^[8]

Function

[edit]

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 anintegral membrane protein andinward-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 byG-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

[edit]

KCNJ6 has been shown tointeract withKCNJ9^[9]^[10] andDLG1.^[11]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000157542 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000043301 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^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.
^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.
^^a ^b"Entrez Gene: KCNJ6 potassium inwardly-rectifying channel, subfamily J, member 6".
^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.
^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.
^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.
^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.

External links

[edit]

KCNJ6+protein,+human at the U.S. National Library of MedicineMedical Subject Headings (MeSH)
Overview of all the structural information available in thePDB forUniProt:P48542 (Mouse G protein-activated inward rectifier potassium channel 2) at thePDBe-KB.

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

Membrane transport protein:ion channels (TC 1A)

Ca²⁺:Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺:Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺:Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻:Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺:Proton channel	HVCN1
M⁺:CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
M⁺:TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+solutes):Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm:Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin