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    KCNJ16 potassium voltage-gated channel subfamily J member 16 [ Homo sapiens (human) ]

    Gene ID: 3773, updated on 8-Dec-2018

    Summary

    Official Symbol
    KCNJ16provided by HGNC
    Official Full Name
    potassium voltage-gated channel subfamily J member 16provided by HGNC
    Primary source
    HGNC:HGNC:6262
    See related
    Ensembl:ENSG00000153822 MIM:605722
    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
    BIR9; KIR5.1
    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 tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
    Expression
    Biased expression in kidney (RPKM 78.7), thyroid (RPKM 73.9) and 4 other tissues See more
    Orthologs

    Genomic context

    See KCNJ16 in Genome Data Viewer
    Location:
    17q24.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (70075225..70135608)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (68071348..68131749)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371881 Neighboring gene uncharacterized LOC112267896 Neighboring gene long intergenic non-protein coding RNA 1028 Neighboring gene uncharacterized LOC105371882 Neighboring gene KCNJ2 antisense RNA 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3.
    NHGRI GWA Catalog
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    NHGRI GWA Catalog
    Genome-wide association study of chronic periodontitis in a general German population.
    NHGRI GWA Catalog
    Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog

    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...
    • 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 ...
    • Gastric acid secretion, organism-specific biosystem (from KEGG)
      Gastric acid secretion, organism-specific biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
    • Gastric acid secretion, conserved biosystem (from KEGG)
      Gastric acid secretion, conserved biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
    • 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 ...
    • Potassium transport channels, organism-specific biosystem (from REACTOME)
      Potassium transport channels, organism-specific biosystemInwardly rectifying potassium transport are tetrameric channels that are found in kidney in the nephron. Kir 1.1 works as a homotetramer, however, Kir 4.1 and 5.1 work as heterotetramers. These chann...
    • 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,...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC33717

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    G-protein activated inward rectifier potassium channel activity TAS
    Traceable Author Statement
    more info
     
    inward rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    inward rectifier potassium channel activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    inward rectifier potassium channel activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    potassium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    potassium ion transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    voltage-gated potassium channel complex NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    inward rectifier potassium channel 16
    Names
    inward rectifier K(+) channel Kir5.1
    inward rectifier K+ channel KIR5.1
    potassium channel, inwardly rectifying subfamily J member 16
    potassium inwardly-rectifying channel, subfamily J, member 16

    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_001270422.1NP_001257351.1  inward rectifier potassium channel 16 isoform b

      See identical proteins and their annotated locations for NP_001257351.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to variant a. Variants 4, 7 and 8 all encode isoform b.
      Source sequence(s)
      AF153816, DA071381, DA627411, DA628604
      Consensus CDS
      CCDS11687.1
      UniProtKB/Swiss-Prot
      Q9NPI9
      Related
      ENSP00000479817.1, ENST00000615244.4
      Conserved Domains (1) summary
      pfam01007
      Location:37352
      IRK; Inward rectifier potassium channel
    2. NM_001291622.1NP_001278551.1  inward rectifier potassium channel 16 isoform a

      See identical proteins and their annotated locations for NP_001278551.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 5 and 6 all encode the same isoform (a).
      Source sequence(s)
      AF153816, AK225944, DA628604
      Consensus CDS
      CCDS74141.1
      UniProtKB/Swiss-Prot
      Q9NPI9
      UniProtKB/TrEMBL
      K7EJR9
      Conserved Domains (1) summary
      pfam01007
      Location:72387
      IRK; Inward rectifier potassium channel
    3. NM_001291623.1NP_001278552.1  inward rectifier potassium channel 16 isoform a

      See identical proteins and their annotated locations for NP_001278552.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 5 and 6 all encode the same isoform (a).
      Source sequence(s)
      AF153816, DA128508, DA636394
      Consensus CDS
      CCDS74141.1
      UniProtKB/Swiss-Prot
      Q9NPI9
      UniProtKB/TrEMBL
      K7EJR9
      Conserved Domains (1) summary
      pfam01007
      Location:72387
      IRK; Inward rectifier potassium channel
    4. NM_001291624.1NP_001278553.1  inward rectifier potassium channel 16 isoform b

      See identical proteins and their annotated locations for NP_001278553.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to variant a. Variants 4, 7 and 8 all encode isoform b.
      Source sequence(s)
      AF153816, DA071381, DA636394
      Consensus CDS
      CCDS11687.1
      UniProtKB/Swiss-Prot
      Q9NPI9
      Conserved Domains (1) summary
      pfam01007
      Location:37352
      IRK; Inward rectifier potassium channel
    5. NM_001291625.1NP_001278554.1  inward rectifier potassium channel 16 isoform b

      See identical proteins and their annotated locations for NP_001278554.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to variant a. Variants 4, 7 and 8 all encode isoform b.
      Source sequence(s)
      AF153816, DA109745, DA636394
      Consensus CDS
      CCDS11687.1
      UniProtKB/Swiss-Prot
      Q9NPI9
      Related
      ENSP00000376438.1, ENST00000392670.5
      Conserved Domains (1) summary
      pfam01007
      Location:37352
      IRK; Inward rectifier potassium channel
    6. NM_018658.2NP_061128.2  inward rectifier potassium channel 16 isoform a

      See identical proteins and their annotated locations for NP_061128.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1, 2, 3, 5 and 6 all encode isoform a.
      Source sequence(s)
      AF153816, DA628604
      Consensus CDS
      CCDS74141.1
      UniProtKB/Swiss-Prot
      Q9NPI9
      UniProtKB/TrEMBL
      K7EJR9
      Conserved Domains (1) summary
      pfam01007
      Location:72387
      IRK; Inward rectifier potassium channel
    7. NM_170741.2NP_733937.2  inward rectifier potassium channel 16 isoform a

      See identical proteins and their annotated locations for NP_733937.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 5 and 6 all encode the same isoform (a).
      Source sequence(s)
      AF153816, AK290799, DA628604
      Consensus CDS
      CCDS74141.1
      UniProtKB/Swiss-Prot
      Q9NPI9
      UniProtKB/TrEMBL
      A8K434, K7EJR9
      Conserved Domains (1) summary
      pfam01007
      Location:72387
      IRK; Inward rectifier potassium channel
    8. NM_170742.2NP_733938.2  inward rectifier potassium channel 16 isoform a

      See identical proteins and their annotated locations for NP_733938.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 5 and 6 all encode the same isoform (a).
      Source sequence(s)
      AF153816, BC033038, DA636394
      Consensus CDS
      CCDS74141.1
      UniProtKB/Swiss-Prot
      Q9NPI9
      UniProtKB/TrEMBL
      K7EJR9, Q8N538
      Related
      ENSP00000465295.1, ENST00000585558.5
      Conserved Domains (1) summary
      pfam01007
      Location:72387
      IRK; Inward rectifier potassium channel

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      70075225..70135608
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024609.1XP_016880098.1  inward rectifier potassium channel 16 isoform X1

      UniProtKB/TrEMBL
      K7EJR9
      Conserved Domains (1) summary
      pfam01007
      Location:72387
      IRK; Inward rectifier potassium channel
    2. XM_006721885.3XP_006721948.1  inward rectifier potassium channel 16 isoform X1

      See identical proteins and their annotated locations for XP_006721948.1

      UniProtKB/TrEMBL
      K7EJR9
      Conserved Domains (1) summary
      pfam01007
      Location:72387
      IRK; Inward rectifier potassium channel
    3. XM_006721886.3XP_006721949.1  inward rectifier potassium channel 16 isoform X1

      See identical proteins and their annotated locations for XP_006721949.1

      UniProtKB/TrEMBL
      K7EJR9
      Conserved Domains (1) summary
      pfam01007
      Location:72387
      IRK; Inward rectifier potassium channel
    4. XM_006721887.3XP_006721950.1  inward rectifier potassium channel 16 isoform X1

      See identical proteins and their annotated locations for XP_006721950.1

      UniProtKB/TrEMBL
      K7EJR9
      Conserved Domains (1) summary
      pfam01007
      Location:72387
      IRK; Inward rectifier potassium channel
    5. XM_017024610.1XP_016880099.1  inward rectifier potassium channel 16 isoform X1

      UniProtKB/TrEMBL
      K7EJR9
      Conserved Domains (1) summary
      pfam01007
      Location:72387
      IRK; Inward rectifier potassium channel
    6. XM_011524781.2XP_011523083.1  inward rectifier potassium channel 16 isoform X2

      See identical proteins and their annotated locations for XP_011523083.1

      UniProtKB/Swiss-Prot
      Q9NPI9
      Related
      ENSP00000376439.1, ENST00000392671.5
      Conserved Domains (1) summary
      pfam01007
      Location:37352
      IRK; Inward rectifier potassium channel
    7. XM_005257337.4XP_005257394.1  inward rectifier potassium channel 16 isoform X1

      See identical proteins and their annotated locations for XP_005257394.1

      UniProtKB/TrEMBL
      K7EJR9
      Conserved Domains (1) summary
      pfam01007
      Location:72387
      IRK; Inward rectifier potassium channel
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