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KCNJ12 potassium voltage-gated channel subfamily J member 12 [ Homo sapiens (human) ]

Gene ID: 3768, updated on 20-Jan-2019

Summary

Official Symbol
KCNJ12provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily J member 12provided by HGNC
Primary source
HGNC:HGNC:6258
See related
Ensembl:ENSG00000184185 MIM:602323
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
IRK2; hIRK; IRK-2; hIRK1; KCNJN1; Kir2.2; Kir2.2v; kcnj12x; hkir2.2x
Summary
This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
Expression
Broad expression in heart (RPKM 2.3), brain (RPKM 1.4) and 20 other tissues See more
Orthologs

Genomic context

See KCNJ12 in Genome Data Viewer
Location:
17p11.2
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (21376387..21419870)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (21279699..21323184)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 1 pseudogene 5 Neighboring gene mitogen-activated protein kinase kinase 3 Neighboring gene PDZ and LIM domain 1 pseudogene 2 Neighboring gene uncharacterized LOC105371589 Neighboring gene ribosomal protein L21 pseudogene 120

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

NHGRI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
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 ...
  • 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,...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14167

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-protein activated inward rectifier potassium channel activity TAS
Traceable Author Statement
more info
 
inward rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inward rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
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 heart contraction TAS
Traceable Author Statement
more info
PubMed 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intrinsic component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ATP-sensitive inward rectifier potassium channel 12
Names
inward rectifier K(+) channel Kir2.2v
inward rectifier K(+) channel Kir2.6
potassium channel, inwardly rectifying subfamily J, member 12
potassium inwardly-rectifying channel, subfamily J, inhibitor 1

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_042809.1 RefSeqGene

    Range
    5001..48481
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021012.5NP_066292.2  ATP-sensitive inward rectifier potassium channel 12

    See identical proteins and their annotated locations for NP_066292.2

    Status: REVIEWED

    Source sequence(s)
    AC068418, AK024229, BC027982, BM799671, DA115102
    Consensus CDS
    CCDS11219.1
    UniProtKB/Swiss-Prot
    Q14500
    Related
    ENSP00000463778.1, ENST00000583088.5
    Conserved Domains (2) summary
    pfam01007
    Location:47374
    IRK; Inward rectifier potassium channel
    pfam08466
    Location:346
    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
    21376387..21419870
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256625.5XP_005256682.1  ATP-sensitive inward rectifier potassium channel 12 isoform X1

    See identical proteins and their annotated locations for XP_005256682.1

    UniProtKB/Swiss-Prot
    Q14500
    Conserved Domains (2) summary
    pfam01007
    Location:47374
    IRK; Inward rectifier potassium channel
    pfam08466
    Location:346
    IRK_N; Inward rectifier potassium channel N-terminal
  2. XM_011523831.2XP_011522133.1  ATP-sensitive inward rectifier potassium channel 12 isoform X1

    See identical proteins and their annotated locations for XP_011522133.1

    UniProtKB/Swiss-Prot
    Q14500
    Related
    ENSP00000328150.5, ENST00000331718.5
    Conserved Domains (2) summary
    pfam01007
    Location:47374
    IRK; Inward rectifier potassium channel
    pfam08466
    Location:346
    IRK_N; Inward rectifier potassium channel N-terminal
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