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KCNJ4 potassium voltage-gated channel subfamily J member 4 [ Homo sapiens (human) ]

Gene ID: 3761, updated on 26-May-2016
Official Symbol
KCNJ4provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily J member 4provided by HGNC
Primary source
HGNC:HGNC:6265
See related
Ensembl:ENSG00000168135 HPRD:02738; MIM:600504; Vega:OTTHUMG00000151131
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]
Orthologs
Location:
22q13.1
Exon count:
3
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 LOC400927-CSNK1E readthrough Neighboring gene TPTE and PTEN homologous inositol lipid phosphatase pseudogene 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 DNA meiotic recombinase 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study of maternal and inherited loci for conotruncal heart defects.
NHGRI GWA Catalog
  • Activation of G protein gated Potassium channels, organism-specific biosystem (from REACTOME)
    Activation of G protein gated Potassium channels, organism-specific biosystemActivation of Kir 3 channels occurs after binding of G beta gamma subunits of GPCR. Activation of Kir3/GIRK leads to K+ efflux. The dissociation of GPCR into G alpha and G beta gamma subunits is acti...
  • Activation of GABAB receptors, organism-specific biosystem (from REACTOME)
    Activation of GABAB receptors, organism-specific biosystemGABA B receptors are metabotropic receptors that are functionally linked to C type G protein coupled receptors.? GABA B receptors are activated upon ligand binding. The GABA B1 subunit binds ligand a...
  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • Cholinergic synapse, organism-specific biosystem (from KEGG)
    Cholinergic synapse, organism-specific biosystemAcetylcholine (ACh) is a neurotransmitter widely distributed in the central (and also peripheral, autonomic and enteric) nervous system (CNS). In the CNS, ACh facilitates many functions, such as lear...
  • Classical Kir channels, organism-specific biosystem (from REACTOME)
    Classical Kir channels, organism-specific biosystemClassical Kir channels are inwardly rectifying K+ channels with strong inwardly rectifying currents that contribute to highly negative resting membrane potential, prolonged action potential plateau a...
  • G protein gated Potassium channels, organism-specific biosystem (from REACTOME)
    G protein gated Potassium channels, organism-specific biosystemInwardly rectifying G protein activated K+ channels (GIRK) are tetrameric assemblies of Ki3 3 family subunits (Kir 3.1, 3.2 3.3 and 3.4). The activation of G protein coupled receptor by ligand result...
  • GABA B receptor activation, organism-specific biosystem (from REACTOME)
    GABA B receptor activation, organism-specific biosystemFunctional GABA B receptors are heteromers of GABA B1 and B2 subunits, complexed with G protein alpha-i, 0, beta, and gamma subunits. They function as metabotropic receptors. When GABA is bound to th...
  • GABA receptor activation, organism-specific biosystem (from REACTOME)
    GABA receptor activation, organism-specific biosystemGamma aminobutyric acid (GABA) receptors are the major inhibitory receptors in human synapses. They are of two types. GABA A receptors are fast-acting ligand gated chloride ion channels that mediate ...
  • Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits, organism-specific biosystem (from REACTOME)
    Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits, organism-specific biosystemGABA B receptors are coupled to Gproteins and function by increasing the K+ and decreasing the Ca2+ inside the cell. The increase in K+ increases the negative membrane potential of the cell thereby h...
  • Inwardly rectifying K+ channels, organism-specific biosystem (from REACTOME)
    Inwardly rectifying K+ channels, organism-specific biosystemInwardly rectifying K+ channels (Kir channels) show an inward rather than outward (like the voltage gated K+ channels) flow of K+ thereby contributing to maintenance of resting membrane potential an...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
  • Oxytocin signaling pathway, organism-specific biosystem (from KEGG)
    Oxytocin signaling pathway, organism-specific biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
  • Oxytocin signaling pathway, conserved biosystem (from KEGG)
    Oxytocin signaling pathway, conserved biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
  • Phase 4 - resting membrane potential, organism-specific biosystem (from REACTOME)
    Phase 4 - resting membrane potential, organism-specific biosystemPhase 4 describes the membrane potential when a cell is not being stimulated. The normal resting potential in the ventricular myocardium is between -85 to -95 mV. The membrane is most permeable to K+...
  • Potassium Channels, organism-specific biosystem (from REACTOME)
    Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC142066, MGC142068

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-protein activated inward rectifier potassium channel activity TAS
Traceable Author Statement
more info
 
PDZ domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
inward rectifier potassium channel activity TAS
Traceable Author Statement
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
 
cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
potassium ion import IBA
Inferred from Biological aspect of Ancestor
more info
 
potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
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 
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 inwardly-rectifying channel, subfamily J, member 4

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:22377
    IRK; Inward rectifier potassium channel
  2. NM_152868.2NP_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)
    BC032562, U07364
    Consensus CDS
    CCDS13971.1
    UniProtKB/Swiss-Prot
    P48050
    UniProtKB/TrEMBL
    A0A024R1L8, Q58F07
    Related
    ENSP00000306497, OTTHUMP00000199208, ENST00000303592, OTTHUMT00000321447
    Conserved Domains (1) summary
    pfam01007
    Location:22377
    IRK; Inward rectifier potassium channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 Alternate CHM1_1.1

    Range
    38781129..38809998 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)