KCNJ6

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)
End	38,121,345 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	94,798,560 bp
RNA expression pattern
	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
	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
	3763
	16522
	ENSG00000157542
	ENSMUSG00000043301
	P48051
	P48542
	NM_002240
	NM_001025584; NM_001025585; NM_001025590; NM_010606
	NP_002231
	NP_001020755; NP_001020756; NP_001020761; NP_034736
	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]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000157542 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: 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.
^ "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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000157542 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[pmid7796919-5] 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.

[pmid16382105-6] 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.

[entrez-7] "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.

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