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KCNJ2 potassium inwardly rectifying channel subfamily J member 2 [ Homo sapiens (human) ]

Gene ID: 3759, updated on 1-Aug-2020

Summary

Official Symbol
KCNJ2provided by HGNC
Official Full Name
potassium inwardly rectifying 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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (70169532..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 Functions

What'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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cardiac conduction TAS
Traceable Author Statement
more info
 
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 ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 voltage-gated 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_000891.3NP_000882.1  inward rectifier potassium channel 2

    See identical proteins and their annotated locations for NP_000882.1

    Status: REVIEWED

    Source sequence(s)
    AC005242, AF153820
    Consensus CDS
    CCDS11688.1
    UniProtKB/Swiss-Prot
    P63252
    Related
    ENSP00000243457.2, ENST00000243457.4
    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 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    70169532..70180044
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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