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    KCNJ4 potassium inwardly rectifying channel subfamily J member 4 [ Homo sapiens (human) ]

    Gene ID: 3761, updated on 5-Mar-2024

    Summary

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    Official Symbol
    KCNJ4provided by HGNC
    Official Full Name
    potassium inwardly rectifying channel subfamily J member 4provided by HGNC
    Primary source
    HGNC:HGNC:6265
    See related
    Ensembl:ENSG00000168135 MIM:600504; AllianceGenome:HGNC:6265
    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
    HIR; HRK1; IRK3; HIRK2; IRK-3; Kir2.3
    Summary
    Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 14.9) and heart (RPKM 6.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See KCNJ4 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (38426327..38455199, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (38890595..38919463, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38822332..38851205, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene TPTEP2-CSNK1E readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38740513-38741012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38743105-38744002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13716 Neighboring gene TPTE pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38793649-38794432 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38799517-38800018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38800019-38800518 Neighboring gene uncharacterized LOC105373030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13718 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38813561-38814060 Neighboring gene uncharacterized LOC101927183 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38829429-38829930 Neighboring gene uncharacterized LOC105373029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38839066-38839566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38847863-38848482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38848483-38849101 Neighboring gene uncharacterized LOC124905116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38857412-38857912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38859483-38859982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38861409-38861910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13719 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13720 Neighboring gene KDEL endoplasmic reticulum protein retention receptor 3 Neighboring gene DEAD-box helicase 17

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Overexpression of KCNJ4 correlates with cancer progression and unfavorable prognosis in lung adenocarcinoma. Wu XY, et al. J Biochem Mol Toxicol, 2019 Apr. PMID 30512237
    2. Kir2.3 knock-down decreases IK1 current in neonatal rat cardiomyocytes. He Y, et al. FEBS Lett, 2008 Jun 25. PMID 18503768
    3. Novel insights into the structural basis of pH-sensitivity in inward rectifier K+ channels Kir2.3. Ureche ON, et al. Cell Physiol Biochem, 2008. PMID 18453743
    4. AP-2-dependent internalization of potassium channel Kir2.3 is driven by a novel di-hydrophobic signal. Mason AK, et al. J Biol Chem, 2008 Mar 7. PMID 18180291
    5. Direct activation of an inwardly rectifying potassium channel by arachidonic acid. Liu Y, et al. Mol Pharmacol, 2001 May. PMID 11306688

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. results shed some light on the contribution of KCNJ4 functioning as a significant player in LADC, implying that KCNJ4 might be a valuable prognostic biomarker and a potential therapeutic target for LADC treatment
      Title: Overexpression of KCNJ4 correlates with cancer progression and unfavorable prognosis in lung adenocarcinoma.
    2. Increased excitability and decreased dendritic arborization are associated with downregulation of inward rectifier potassium channels (Kir2.1/2.3).
      Title: Striatal D2 receptors regulate dendritic morphology of medium spiny neurons via Kir2 channels.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
    4. TIP-1 may act as an important regulator for the endocytic pathway of Kir2.3.
      Title: Molecular mechanism of inward rectifier potassium channel 2.3 regulation by tax-interacting protein-1.
    5. The data suggest that Kir2.3 plays a potentially important role in I(K1) currents in neonatal rat cardiomyocytes.
      Title: Kir2.3 knock-down decreases IK1 current in neonatal rat cardiomyocytes.
    6. possibility of intramolecular interactions of the residue Kir2.3(H117) with conserved cysteines in close proximity to the selectivity filter
      Title: Novel insights into the structural basis of pH-sensitivity in inward rectifier K+ channels Kir2.3.
    7. Kir2.3 is internalized by an AP-2 clathrin-dependent mechanism.
      Title: AP-2-dependent internalization of potassium channel Kir2.3 is driven by a novel di-hydrophobic signal.
    8. In conclusion, the data are consistent with the universal mechanism of rectification in Kir2 channels, but also point to significant, and physiologically important, quantitative differences between Kir2 isoforms.
      Title: Differential polyamine sensitivity in inwardly rectifying Kir2 potassium channels.
    9. Kir2.2 and Kir2.1 are primary determinants of endogenous K(+) conductance in HAECs under resting conditions and that Kir2.2 provides the dominant conductance in these cells.
      Title: Functional expression of Kir2.x in human aortic endothelial cells: the dominant role of Kir2.2.
    10. Results describe the regulation of inwardly rectifying potassium current and its main molecular correlates, Kir2.1, Kir2.2 and Kir2.3 channels, by endothelin-1 in human atrial cardiomyocytes.
      Title: Regulation of cardiac inwardly rectifying potassium current IK1 and Kir2.x channels by endothelin-1.
    Submit: New GeneRIF Correction

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of maternal and inherited loci for conotruncal heart defects.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC142066, MGC142068

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables PDZ domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables inward rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in potassium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in potassium ion transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of monoatomic ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of voltage-gated potassium channel complex TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    inward rectifier potassium channel 4
    Names
    hippocampal inward rectifier potassium channel
    inward rectifier K(+) channel Kir2.3
    potassium channel, inwardly rectifying subfamily J, member 4
    potassium voltage-gated channel subfamily J member 4

    NCBI Reference Sequences (RefSeq)

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    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_050625.2 RefSeqGene

      Range
      5000..33872
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004981.2 → NP_004972.1  inward rectifier potassium channel 4

      See identical proteins and their annotated locations for NP_004972.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      U07364
      Consensus CDS
      CCDS13971.1
      UniProtKB/Swiss-Prot
      P48050, Q14D44
      UniProtKB/TrEMBL
      Q58F07
      Conserved Domains (2) summary
      pfam01007
      Location:22 → 178
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:185 → 357
      IRK_C; Inward rectifier potassium channel C-terminal domain

    2. NM_152868.3 → NP_690607.1  inward rectifier potassium channel 4

      See identical proteins and their annotated locations for NP_690607.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      Z97056
      Consensus CDS
      CCDS13971.1
      UniProtKB/Swiss-Prot
      P48050, Q14D44
      UniProtKB/TrEMBL
      Q58F07
      Related
      ENSP00000306497.3, ENST00000303592.3
      Conserved Domains (2) summary
      pfam01007
      Location:22 → 178
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:185 → 357
      IRK_C; Inward rectifier potassium channel C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      38426327..38455199 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      38890595..38919463 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P48050.1 GenPept UniProtKB/Swiss-Prot:P48050

    Gene LinkOut

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

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