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

Gene ID: 3761, updated on 14-Nov-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
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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_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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Binding of the inward rectifier K+ channel Kir 2.3 to PSD-95 is regulated by protein kinase A phosphorylation. Cohen NA, et al. Neuron, 1996 Oct. PMID 8893032
  2. 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
  3. Assignment of the human hippocampal inward rectifier potassium channel (HIR) gene to 22q13.1. Budarf ML, et al. Genomics, 1995 Apr 10. PMID 7607694
  4. Direct activation of an inwardly rectifying potassium channel by arachidonic acid. Liu Y, et al. Mol Pharmacol, 2001 May. PMID 11306688
  5. Cloning and expression of a novel human brain inward rectifier potassium channel. Makhina EN, et al. J Biol Chem, 1994 Aug 12. PMID 8051145

See all (45) 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)

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 inward rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables inward rectifier potassium channel activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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_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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P48050.1 GenPept UniProtKB/Swiss-Prot:P48050

Gene LinkOut

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