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    KCNJ12 potassium inwardly-rectifying channel, subfamily J, member 12 [ Homo sapiens ]

    Gene ID: 3768, updated on 6-May-2012

    Summary

    Official Symbol
    KCNJ12provided by HGNC
    Official Full Name
    potassium inwardly-rectifying channel, subfamily J, member 12provided by HGNC
    Primary source
    HGNC:6258
    See related
    Ensembl:ENSG00000184185; HPRD:09083; MIM:602323; Vega:OTTHUMG00000132039
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IRK2; hIRK; IRK-2; hIRK1; KCNJN1; Kir2.2; Kir2.2v; kcnj12x; hkir2.2x; FLJ14167
    Summary
    This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    17p11.2
    Sequence :
    Chromosome: 17; NC_000017.10 (21279699..21323179)
    See KCNJ12 in Epigenomics, MapViewer

    Chromosome 17 - NC_000017.10Genomic Context describing neighboring genes Neighboring gene chromosome 17 open reading frame 103 Neighboring gene mitogen-activated protein kinase kinase 3 Neighboring gene PDZ and LIM domain 1 pseudogene Neighboring gene ribosomal protein L21 pseudogene 120

    Genomic regions, transcripts, and products

    Bibliography

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q14500 O14639 ABLIM1    HPRD  PubMed  
    Q14500 Q02410 APBA1    HPRD  PubMed  
    Q14500 O14936 CASK    HPRD  PubMed  
    Q14500 Q12959 DLG1    HPRD  PubMed  
    Q14500 Q15700 DLG2    HPRD  PubMed  
    Q14500 Q92796 DLG3    HPRD  PubMed  
    Q14500 P78352 DLG4    HPRD  PubMed  
    Q14500 P11532 DMD    HPRD  PubMed  
    Q14500 Q9Y4J8 DTNA    HPRD  PubMed  
    Q14500 O14910 LIN7A    HPRD  PubMed  
    Q14500 Q9HAP6 LIN7B    HPRD  PubMed  
    Q14500 Q9NUP9 LIN7C    HPRD  PubMed  
    Q14500 P17612 PRKACA    HPRD  PubMed  
    Q14500 Q13424 SNTA1    HPRD  PubMed  
    Q14500 Q13884 SNTB1    HPRD  PubMed  
    Q14500 Q13425 SNTB2    HPRD  PubMed  
    BioGRID:109970 BioGRID:110171 ABLIM1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109970 BioGRID:106817 APBA1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:109970 BioGRID:114141 CASK    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:109970 BioGRID:108083 DLG1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109970 BioGRID:108084 DLG2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:109970 BioGRID:108085 DLG3    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:109970 BioGRID:108086 DLG4    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:109970 BioGRID:108096 DMD    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109970 BioGRID:108170 DTNA    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109970 BioGRID:114352 LIN7A    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109970 BioGRID:122079 LIN7B    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109970 BioGRID:120608 LIN7C    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109970 BioGRID:119675 MPP6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109970 BioGRID:112523 SNTA1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109970 BioGRID:112524 SNTB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109970 BioGRID:112528 SNTB2    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    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...
    • Classical Kir channels, organism-specific biosystem (from REACTOME)
      Classical Kir channels, organism-specific biosystemClassical Kir channels are inwardly rectifying K+ channels with strong inwardly rectifying currents that contribute to highly negative resting membrane potential, prolonged action potential plateau a...
    • 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...
    • 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 ...
    • 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
    PDZ domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    inward rectifier potassium channel activity TAS
    Traceable Author Statement
    more info
     
    ion channel inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    potassium channel regulator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    voltage-gated ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    blood circulation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    potassium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of heart contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    synaptic transmission TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    T-tubule 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 IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ATP-sensitive inward rectifier potassium channel 12
    Names
    ATP-sensitive inward rectifier potassium channel 12
    inward rectifier K(+) channel Kir2.2
    inward rectifier K(+) channel Kir2.6
    inward rectifier K(+) channel Kir2.2v
    potassium channel, inwardly rectifying subfamily J member 12
    potassium inwardly-rectifying channel, subfamily J, inhibitor 1

    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.

    mRNA and Protein(s)

    1. NM_021012.4NP_066292.2  ATP-sensitive inward rectifier potassium channel 12

      Status: VALIDATED

      Source sequence(s)
      AC068418, AK024229, BC027982, BM799671, DA115102
      Consensus CDS
      CCDS11219.1
      UniProtKB/Swiss-Prot
      Q14500
      Related
      ENSP00000328150, OTTHUMP00000162917, ENST00000331718, OTTHUMT00000255060
      Conserved Domains (2) summary
      pfam08466
      Location:246
      Blast Score: 222
      IRK_N; Inward rectifier potassium channel N-terminal
      cl11596
      Location:47381
      Blast Score: 1575
      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_000017.10 Reference GRCh37.p5 Primary Assembly

      Range
      21279699..21323179
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 PATCHES

    Genomic

    1. NW_003315950.1 Reference GRCh37.p5 PATCHES

      Range
      28752..72232
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. NW_001839455.1 Alternate HuRef

      Range
      100780..141895, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AB074970.1 BAC02718.1
    genomic AB181299.1 BAD22701.1
    genomic AC068418.5 (101650..142871) None
    genomic CH471221.1 EAW49109.1
    genomic U53143.1 AAC50615.1
    mRNA AB182123.1 BAD23901.1
    mRNA AF005214.1 AAC01951.1
    mRNA AK024229.1 None
    mRNA BC027982.1 AAH27982.1
    mRNA BM799671.1 None
    mRNA DA115102.1 None
    mRNA L36069.1 AAA65122.1
    other-genetic JF432412.1 ADZ15629.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14500.2 GenPept UniProtKB/Swiss-Prot:Q14500
    Q6L5N3 GenPept UniProtKB/TrEMBL:Q6L5N3

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