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

Gene ID: 3761, updated on 6-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
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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)

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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_004981.2NP_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)