My NCBISign In

Display Settings:

Format

Send to:

Choose Destination

    KCNJ6 potassium inwardly-rectifying channel, subfamily J, member 6 [ Homo sapiens ]

    Gene ID: 3763, updated on 14-May-2012
    Help top of page

    Summary

    Official Symbol
    KCNJ6provided by HGNC
    Official Full Name
    potassium inwardly-rectifying channel, subfamily J, member 6provided by HGNC
    Primary source
    HGNC:6267
    See related
    Ensembl:ENSG00000157542; HPRD:02929; MIM:600877; Vega:OTTHUMG00000086667
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BIR1; GIRK2; KATP2; KCNJ7; GIRK-2; KATP-2; KIR3.2; hiGIRK2; MGC126596
    Summary
    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. [provided by RefSeq, Jul 2008]
    Help top of page

    Genomic context

    Location :
    21q22.1
    Sequence :
    Chromosome: 21; NC_000021.8 (38996785..39288696, complement)
    See KCNJ6 in Epigenomics, MapViewer

    Chromosome 21 - NC_000021.8Genomic Context describing neighboring genes Neighboring gene Down syndrome critical region gene 3 Neighboring gene dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A Neighboring gene Down syndrome critical region gene 4 Neighboring gene Down syndrome critical region gene 8

    Help top of page

    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
    Helptop of page

    Bibliography

    Related articles in PubMed

    1. Dysfunctional hippocampal inhibition in the Ts65Dn mouse model of Down syndrome. Best TK, et al. Exp Neurol, 2012 Feb. PMID 22178330.
    2. Identification of GIRK2-4 subunits in human esophageal smooth muscle cells. Lu Q, et al. Mol Med Report, 2011 Sep-Oct. PMID 21637918.
    3. KCNJ6 is associated with adult alcohol dependence and involved in gene × early life stress interactions in adolescent alcohol drinking. Clarke TK, et al. Neuropsychopharmacology, 2011 May. PMID 21307845.
    4. Epistatic interaction of CREB1 and KCNJ6 on rumination and negative emotionality. Lazary J, et al. Eur Neuropsychopharmacol, 2011 Jan. PMID 20943350.
    5. GABAB-GIRK2-mediated signaling in Down syndrome. Cramer NP, et al. Adv Pharmacol, 2010. PMID 20655490.

    See all (45) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. GIRK overexpression in Ts65Dn mice has functional consequences affecting balance between GABA(A) and GABA(B) inhibition of CA1 pyramidal neurons in a pathway specific manner, that may contribute to cognitive deficits in Ts65 mouse model of Down syndrome.
      Title: Dysfunctional hippocampal inhibition in the Ts65Dn mouse model of Down syndrome.
    2. KCNJ6 is associated with alcohol dependence and may moderate the effect of early psychosocial stress on risky alcohol drinking in adolescents
      Title: KCNJ6 is associated with adult alcohol dependence and involved in gene × early life stress interactions in adolescent alcohol drinking.
    3. This study is the first to identify the expression of GIRK2-4 subunits in human esophageal smooth muscle cells.
      Title: Identification of GIRK2-4 subunits in human esophageal smooth muscle cells.
    4. The KCNJ6 promoter is activated by Trichostatin A (TSA) treatment and by serum depletion according to promoter reporter assays in HEK 293 cells.
      Title: Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters.
    5. significant interaction between the TT genotype of rs2070995 (located in KCNJ6) and the GG genotype of rs2253206 (located in CREB1) on rumination were found
      Title: Epistatic interaction of CREB1 and KCNJ6 on rumination and negative emotionality.
    6. The overexpression of one particular gene encoding for G-protein-activated inward rectifying potassium type 2 (GIRK2) channel subunit and its coupling to GABA(B) receptors may contribute to a range of mental and functional disabilities in Down syndrome.
      Title: GABAB-GIRK2-mediated signaling in Down syndrome.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: A KCNJ6 (Kir3.2, GIRK2) gene polymorphism modulates opioid effects on analgesia and addiction but not on pupil size.
    9. KCNJ6 (GIRK2) gene polymorphisms have roles in postoperative analgesic requirements after major abdominal surgery
      Title: Association between KCNJ6 (GIRK2) gene polymorphisms and postoperative analgesic requirements after major abdominal surgery.
    10. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept.
    Submit: New GeneRIF Correction See all (19)
    Help top of page

    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Help top of page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P48051 P07550 ADRB2    HPRD  PubMed  
    P48051 Q12959 DLG1    HPRD  PubMed  
    P48051 P14416 DRD2    HPRD  PubMed  
    P48051 P48549 KCNJ3    HPRD  PubMed  
    P48051 P48051 KCNJ6    HPRD  PubMed  
    P48051 Q92806 KCNJ9    HPRD  PubMed  
    BioGRID:109965 BioGRID:106829 BIRC5    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109965 BioGRID:108083 DLG1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109965 BioGRID:108147 DRD2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109965 BioGRID:109967 KCNJ9    BioGRID  PubMed Affinity Capture-Western 
    Help top of page

    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Activation of G protein gated Potassium channels, organism-specific biosystem (from REACTOME)
      Activation of G protein gated Potassium channels, organism-specific biosystemActivation of Kir 3 channels occurs after binding of G beta gamma subunits of GPCR. Activation of Kir3/GIRK leads to K+ efflux. The dissociation of GPCR into G alpha and G beta gamma subunits is acti...
    • Activation of GABAB receptors, organism-specific biosystem (from REACTOME)
      Activation of GABAB receptors, organism-specific biosystemGABA B receptors are metabotropic receptors that are functionally linked to C type G protein coupled receptors.? GABA B receptors are activated upon ligand binding. The GABA B1 subunit binds ligand a...
    • Cholinergic synapse, organism-specific biosystem (from KEGG)
      Cholinergic synapse, organism-specific biosystemAcetylcholine (ACh) is a neurotransmitter widely distributed in the central (and also peripheral, autonomic and enteric) nervous system (CNS). In the CNS, ACh facilitates many functions, such as lear...
    • Dopaminergic synapse, organism-specific biosystem (from KEGG)
      Dopaminergic synapse, organism-specific biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
    • Dopaminergic synapse, conserved biosystem (from KEGG)
      Dopaminergic synapse, conserved biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
    • G protein gated Potassium channels, organism-specific biosystem (from REACTOME)
      G protein gated Potassium channels, organism-specific biosystemInwardly rectifying G protein activated K+ channels (GIRK) are tetrameric assemblies of Ki3 3 family subunits (Kir 3.1, 3.2 3.3 and 3.4). The activation of G protein coupled receptor by ligand result...
    • GABA B receptor activation, organism-specific biosystem (from REACTOME)
      GABA B receptor activation, organism-specific biosystemFunctional GABA B receptors are heteromers of GABA B1 and B2 subunits, complexed with G protein alpha-i, 0, beta, and gamma subunits. They function as metabotropic receptors. When GABA is bound to th...
    • GABA receptor activation, organism-specific biosystem (from REACTOME)
      GABA receptor activation, organism-specific biosystemGamma aminobutyric acid (GABA) receptors are the major inhibitory receptors in human synapses. They are of two types. GABA A receptors are fast-acting ligand gated chloride ion channels that mediate ...
    • GABAergic synapse, organism-specific biosystem (from KEGG)
      GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • GABAergic synapse, conserved biosystem (from KEGG)
      GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits, organism-specific biosystem (from REACTOME)
      Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits, organism-specific biosystemGABA B receptors are coupled to Gproteins and function by increasing the K+ and decreasing the Ca2+ inside the cell. The increase in K+ increases the negative membrane potential of the cell thereby h...
    • Inwardly rectifying K+ channels, organism-specific biosystem (from REACTOME)
      Inwardly rectifying K+ channels, organism-specific biosystemInwardly rectifying K+ channels (Kir channels) show an inward rather than outward (like the voltage gated K+ channels) flow of K+ thereby contributing to maintenance of resting membrane potential an...
    • Morphine addiction, organism-specific biosystem (from KEGG)
      Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • Morphine addiction, conserved biosystem (from KEGG)
      Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
      Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
    • Potassium Channels, organism-specific biosystem (from REACTOME)
      Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
    • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
      Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
      Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Serotonergic synapse, organism-specific biosystem (from KEGG)
      Serotonergic synapse, organism-specific biosystemSerotonin (5-Hydroxytryptamine, 5-HT) is a monoamine neurotransmitter that plays important roles in physiological functions such as learning and memory, emotion, sleep, pain, motor function and endoc...
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    G-protein activated inward rectifier potassium channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    G-protein alpha-subunit binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    inward rectifier potassium channel activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    voltage-gated ion channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    potassium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to electrical stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    synaptic transmission TAS
    Traceable Author Statement
    more info
    		  
    thyroid hormone metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    axon IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell surface IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    neuronal cell body membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    voltage-gated potassium channel complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Help top of page

    General protein information

    Preferred Names
    G protein-activated inward rectifier potassium channel 2
    Names
    G protein-activated inward rectifier potassium channel 2
    inward rectifier K(+) channel Kir3.2
    inward rectifier potassium channel KIR3.2
    potassium channel, inwardly rectifying subfamily J member 6
    Help top of page

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029892.1 RefSeqGene

      Range
      5001..296912
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002240.2 → NP_002231.1  G protein-activated inward rectifier potassium channel 2

      Status: REVIEWED

      Source sequence(s)
      BF110130, D87327, U52153
      Consensus CDS
      CCDS42927.1
      UniProtKB/Swiss-Prot
      P48051
      Related
      ENSP00000383330, OTTHUMP00000109101, ENST00000400482, OTTHUMT00000194828
      Conserved Domains (1) summary
      cl11596
      Location:57 – 376
      Blast Score: 1527
      Ion_trans_2; Ion channel

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000021.8 Reference GRCh37.p5 Primary Assembly

      Range
      38996785..39288696, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000153.1 Alternate HuRef

      Range
      24470134..24761876, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AP001407.1 (4546..17827) None
    genomic AP001408.1 None
    genomic AP001411.1 None
    genomic AP001416.1 None
    genomic AP001424.1 None
    genomic AP001427.1 None
    genomic AP001430.1 None
    genomic AP001433.1 None
    genomic AP001436.1 None
    genomic CH471079.2 EAX09692.1
    genomic S78685.1 AAB34738.2
    mRNA AJ001894.1 None
    mRNA AK313997.1 BAG36709.1
    mRNA BC101547.1 AAI01548.1
    mRNA BF110130.1 None
    mRNA D87327.1 BAA13331.1
    mRNA U24660.1 AAC50258.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P48051.1 GenPept UniProtKB/Swiss-Prot:P48051
    Help top of page

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Links

      Links to other resources

      General information

      Related sites

      Feedback

      Subscription

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...