KCNJ6

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]

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

• G protein-coupled inwardly-rectifying potassium channel
• Inward-rectifier potassium ion channel