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KCNJ2 potassium voltage-gated channel subfamily J member 2 [ Homo sapiens (human) ]

Gene ID: 3759, updated on 23-Dec-2018

Summary

Official Symbol
KCNJ2provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily J member 2provided by HGNC
Primary source
HGNC:HGNC:6263
See related
Ensembl:ENSG00000123700 MIM:600681
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
IRK1; LQT7; SQT3; ATFB9; HHIRK1; KIR2.1; HHBIRK1
Summary
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]
Expression
Broad expression in spleen (RPKM 3.4), heart (RPKM 3.3) and 23 other tissues See more
Orthologs

Genomic context

See KCNJ2 in Genome Data Viewer
Location:
17q24.3
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (70169535..70180044)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (68164757..68176189)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371882 Neighboring gene KCNJ2 antisense RNA 1 Neighboring gene calmodulin 2 pseudogene 1 Neighboring gene F2 enhancer upstream of SOX9

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Andersen Tawil syndrome Compare labs
Atrial fibrillation, familial, 9
MedGen: C3151431 OMIM: 613980 GeneReviews: Not available
Compare labs
Short QT syndrome 3
MedGen: C1865018 OMIM: 609622 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A common variant near the KCNJ2 gene is associated with T-peak to T-end interval.
NHGRI GWA Catalog
A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis.
NHGRI GWA Catalog
Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
NHGRI GWA Catalog
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
NHGRI GWA Catalog
Genome-wide association analysis identifies six new loci associated with forced vital capacity.
NHGRI GWA Catalog
Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3.
NHGRI GWA Catalog
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
NHGRI GWA Catalog
Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.
NHGRI GWA Catalog
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
NHGRI GWA Catalog
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
NHGRI GWA Catalog
Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.
NHGRI GWA Catalog

Pathways from BioSystems

  • 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 ...
  • Gastric acid secretion, organism-specific biosystem (from KEGG)
    Gastric acid secretion, organism-specific biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
  • Gastric acid secretion, conserved biosystem (from KEGG)
    Gastric acid secretion, conserved biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
  • 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 ...
  • Renin secretion, organism-specific biosystem (from KEGG)
    Renin secretion, organism-specific biosystemThe aspartyl-protease renin is the key regulator of the renin-angiotensin-aldosterone system, which is critically involved in extracellular fluid volume and blood pressure homeostasis of the body. R...
  • Renin secretion, conserved biosystem (from KEGG)
    Renin secretion, conserved biosystemThe aspartyl-protease renin is the key regulator of the renin-angiotensin-aldosterone system, which is critically involved in extracellular fluid volume and blood pressure homeostasis of the body. R...
  • TarBasePathway, organism-specific biosystem (from WikiPathways)
    TarBasePathway, organism-specific biosystemThis cataloge pathway was created using the database from "http://diana.cslab.ece.ntua.gr/tarbase/" with exclusions based on evidance type. This pathway only incldes miR targeted genes expressed in A...
  • 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,...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cardiac muscle cell action potential involved in contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular potassium ion homeostasis TAS
Traceable Author Statement
more info
PubMed 
cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
magnesium ion transport IEA
Inferred from Electronic Annotation
more info
 
membrane depolarization during cardiac muscle cell action potential TAS
Traceable Author Statement
more info
PubMed 
membrane repolarization during action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane repolarization during cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane repolarization during cardiac muscle cell action potential TAS
Traceable Author Statement
more info
PubMed 
positive regulation of potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion import across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cardiac muscle cell contraction IEA
Inferred from Electronic Annotation
more info
 
regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of membrane repolarization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of resting membrane potential TAS
Traceable Author Statement
more info
PubMed 
regulation of skeletal muscle contraction via regulation of action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
relaxation of cardiac muscle IMP
Inferred from Mutant Phenotype
more info
PubMed 
relaxation of skeletal muscle IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
T-tubule IEA
Inferred from Electronic Annotation
more info
 
dendritic spine IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
intercalated disc IEA
Inferred from Electronic Annotation
more info
 
intrinsic component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
rough endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
smooth endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
inward rectifier potassium channel 2
Names
IRK-1
cardiac inward rectifier potassium channel
hIRK1
inward rectifier K+ channel KIR2.1
potassium channel, inwardly rectifying subfamily J, member 2
potassium inwardly-rectifying channel, subfamily J, member 2

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_008798.1 RefSeqGene

    Range
    5001..15510
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_328

mRNA and Protein(s)

  1. NM_000891.2NP_000882.1  inward rectifier potassium channel 2

    See identical proteins and their annotated locations for NP_000882.1

    Status: REVIEWED

    Source sequence(s)
    AF153820
    Consensus CDS
    CCDS11688.1
    UniProtKB/Swiss-Prot
    P63252
    Related
    ENSP00000243457.2, ENST00000243457.3
    Conserved Domains (2) summary
    pfam01007
    Location:48373
    IRK; Inward rectifier potassium channel
    pfam08466
    Location:247
    IRK_N; Inward rectifier potassium channel N-terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    70169535..70180044
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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