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

    Gene ID: 3761, updated on 28-Oct-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KCNJ4 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (38426327..38455199, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (38890595..38919463, complement)
    RS_2024_09 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

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_004981.2NP_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:22178
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:185357
      IRK_C; Inward rectifier potassium channel C-terminal domain
    2. NM_152868.3NP_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:22178
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:185357
      IRK_C; Inward rectifier potassium channel C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)