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

Gene ID: 3761, updated on 1-Jun-2020

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
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

Genomic context

See KCNJ4 in Genome Data Viewer
Location:
22q13.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (38426327..38455199, complement)
105 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 CRISPRi-validated cis-regulatory element chr22.1870 Neighboring gene uncharacterized LOC105373030 Neighboring gene uncharacterized LOC101927183 Neighboring gene uncharacterized LOC105373029 Neighboring gene KDEL endoplasmic reticulum protein retention receptor 3 Neighboring gene DEAD-box helicase 17 Neighboring gene CRISPRi-validated cis-regulatory element chr22.1887 Neighboring gene DNA meiotic recombinase 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 Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC142066, MGC142068

Gene Ontology Provided by GOA

Function Evidence Code Pubs
PDZ domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
inward rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cardiac conduction TAS
Traceable Author Statement
more info
 
potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
regulation of ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
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)

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_050625.1 RefSeqGene

    Range
    5001..33873
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004981.1NP_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
    UniProtKB/TrEMBL
    A0A024R1L8
    Conserved Domains (1) summary
    pfam01007
    Location:22357
    IRK; Inward rectifier potassium channel
  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
    UniProtKB/TrEMBL
    A0A024R1L8, Q58F07
    Related
    ENSP00000306497.3, ENST00000303592.3
    Conserved Domains (1) summary
    pfam01007
    Location:22357
    IRK; Inward rectifier potassium channel

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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