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    KCNJ5 potassium inwardly-rectifying channel, subfamily J, member 5 [ Homo sapiens ]

    Gene ID: 3762, updated on 19-May-2012
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    Summary

    Official Symbol
    KCNJ5provided by HGNC
    Official Full Name
    potassium inwardly-rectifying channel, subfamily J, member 5provided by HGNC
    Primary source
    HGNC:6266
    See related
    Ensembl:ENSG00000120457; HPRD:09010; MIM:600734; Vega:OTTHUMG00000165795
    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
    CIR; GIRK4; KATP1; LQT13; KIR3.4
    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. It may associate with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    11q24
    Sequence :
    Chromosome: 11; NC_000011.9 (128761313..128787964)
    See KCNJ5 in Epigenomics, MapViewer

    Chromosome 11 - NC_000011.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507392 Neighboring gene Friend leukemia virus integration 1 Neighboring gene potassium inwardly-rectifying channel, subfamily J, member 1 Neighboring gene chromosome 11 open reading frame 45 Neighboring gene tumor protein p53 regulated apoptosis inducing protein 1 Neighboring gene Rho GTPase activating protein 32

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5. Scholl UI, et al. Proc Natl Acad Sci U S A, 2012 Feb 14. PMID 22308486.
    2. Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism. Boulkroun S, et al. Hypertension, 2012 Mar. PMID 22275527.
    3. Somatic mutations affecting the selectivity filter of KCNJ5 are frequent in 2 large unselected collections of adrenal aldosteronomas. Azizan EA, et al. Hypertension, 2012 Mar. PMID 22252394.
    4. KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. Mulatero P, et al. Hypertension, 2012 Feb. PMID 22203740.
    5. Mutations in KCNJ5 gene cause hyperaldosteronism. Zennaro MC, et al. Circ Res, 2011 Jun 10. PMID 21659651.

    See all (40) 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. A new mutation in the KCNJ5 potassium channel is associated with familial hyperaldosteronism-III and is responsible for marked alterations of channel function. And it associated with a mild clinical and hormonal phenotype.
      Title: KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism.
    2. somatic KCNJ5 mutations are not restricted to large APAs (>2 cm), and their frequency in our unselected series suggests they are common and could be important in the molecular pathogenesis of many sporadic cases of APA.
      Title: Somatic mutations affecting the selectivity filter of KCNJ5 are frequent in 2 large unselected collections of adrenal aldosteronomas.
    3. younger age and higher aldosterone levels at diagnosis suggest that KCNJ5 mutations may be associated with a more florid phenotype of primary aldosteronism.
      Title: Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism.
    4. findings demonstrate variations in phenotypes and clinical outcome resulting from different mutations of the same amino acid in KCNJ5 and have implications for diagnosis and pathogenesis of primary aldosteronism with and without adrenal hyperplasia
      Title: Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.
    5. Both genotype distribution and allele frequencies of the SNPs rs6590357 and rs7118824 in KCNJ5 significantly differed between the early-onset lone atrial fibrillation patients and control group.
      Title: Common polymorphisms in KCNJ5 [corrected] are associated with early-onset lone atrial fibrillation in Caucasians.
    6. 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.
    7. The activation of atrial and ventricular K(ATP) channels enhances arrhythmogenicity, suggesting that such activation may contribute to reentrant arrhythmias in ischemic hearts.
      Title: Effects of KATP channel openers diazoxide and pinacidil in coronary-perfused atria and ventricles from failing and non-failing human hearts.
    8. Mutations in KCNJ5 gene cause hyperaldosteronism
      Title: Mutations in KCNJ5 gene cause hyperaldosteronism.
    9. identified 2 somatic mutations in and near selectivity filter of KCNJ5 channel in aldosterone-producing adrenal adenomas and an inherited KCNJ5 mutation producing increased Na(+) conductance in Mendelian form of aldosteronism and adrenal hyperplasia
      Title: K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.
    10. We identified several known single nucleotide polymorphisms in KCNJ3 and KCNJ5, but no mutations in either of the genes.
      Title: Genetic variation in the inwardly rectifying K channel subunits KCNJ3 (GIRK1) and KCNJ5 (GIRK4) in patients with sinus node dysfunction.
    Submit: New GeneRIF Correction See all (21)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Hyperaldosteronism, familial, type III

    Long QT syndrome 13

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P48544 P48549 KCNJ3    HPRD  PubMed  
    P48544 P48544 KCNJ5    HPRD  PubMed  
    BioGRID:109964 BioGRID:106663 ADRB2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109964 BioGRID:108147 DRD2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109964 BioGRID:108149 DRD4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109964 BioGRID:109962 KCNJ3    BioGRID  PubMed Phenotypic Enhancement; Reconstituted Complex 
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    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...
    • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
      Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
    • 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 ...
    • 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...
    • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Notch Signaling Pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • 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 TAS
    Traceable Author Statement
    more info
    		 PubMed 
    contributes_to inward rectifier potassium channel activity IDA
    Inferred from Direct Assay
    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
    		  
    synaptic transmission TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    voltage-gated potassium channel complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    G protein-activated inward rectifier potassium channel 4
    Names
    G protein-activated inward rectifier potassium channel 4
    IRK-4
    heart KATP channel
    inward rectifier K+ channel KIR3.4
    cardiac ATP-sensitive potassium channel
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    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_023406.2 RefSeqGene

      Range
      5001..31652
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_333

    mRNA and Protein(s)

    1. NM_000890.3 → NP_000881.3  G protein-activated inward rectifier potassium channel 4

      Status: REVIEWED

      Source sequence(s)
      U52154
      Consensus CDS
      CCDS8479.1
      UniProtKB/Swiss-Prot
      P48544
      Related
      ENSP00000433295, OTTHUMP00000230987, ENST00000529694, OTTHUMT00000386238
      Conserved Domains (1) summary
      cl11596
      Location:54 – 389
      Blast Score: 1618
      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_000011.9 Reference GRCh37.p5 Primary Assembly

      Range
      128761313..128787964
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000143.1 Alternate HuRef

      Range
      124711137..124737786
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AP000920.4 (55200..81851) None
    genomic CH471065.1 EAW67726.1
      EAW67727.1
    mRNA AB690268.1 BAL72885.1
    mRNA AK312837.1 BAG35691.1
    mRNA BC069386.1 AAH69386.1
    mRNA BC069482.1 AAH69482.1
    mRNA BC069499.1 AAH69499.1
    mRNA BC069571.1 AAH69571.1
    mRNA BC074838.2 AAH74838.2
    mRNA BC074839.2 AAH74839.2
    mRNA BC096834.1 AAH96834.1
    mRNA D50134.1 BAA08814.1
    mRNA JN859132.1 AFB82769.1
    mRNA JN859133.1 AFB82770.1
    mRNA L47208.1 AAB07269.1
    mRNA U39195.1 AAB53093.1
    mRNA X83582.1 CAA58565.1
    other-genetic HQ447428.1 ADQ31914.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P48544.2 GenPept UniProtKB/Swiss-Prot:P48544
    Q4QRJ2 GenPept UniProtKB/TrEMBL:Q4QRJ2
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    Additional Links

    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

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