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

Gene ID: 3759, updated on 22-Sep-2022

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; AllianceGenome:HGNC:6263
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
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Genomic context

See KCNJ2 in Genome Data Viewer
Location:
17q24.3
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (70169532..70180044)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (71047853..71058363)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (68165673..68176185)

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 uncharacterized LOC124904100

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 type 3
MedGen: C1865018 OMIM: 609622 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A common variant near the KCNJ2 gene is associated with T-peak to T-end interval.
EBI GWAS Catalog
A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis.
EBI GWAS Catalog
Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
EBI GWAS Catalog
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
EBI GWAS Catalog
Genome-wide association analysis identifies six new loci associated with forced vital capacity.
EBI GWAS Catalog
Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3.
EBI GWAS Catalog
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
EBI GWAS Catalog
Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.
EBI GWAS Catalog
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
EBI GWAS Catalog
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
EBI GWAS Catalog
Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog
PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.
EBI GWAS 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
involved_in cardiac muscle cell action potential involved in contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular potassium ion homeostasis TAS
Traceable Author Statement
more info
PubMed 
involved_in cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in magnesium ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in membrane depolarization during cardiac muscle cell action potential TAS
Traceable Author Statement
more info
PubMed 
involved_in membrane repolarization during action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in membrane repolarization during cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in membrane repolarization during cardiac muscle cell action potential TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in potassium ion import across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in potassium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cardiac muscle cell contraction IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of membrane repolarization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of resting membrane potential TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of skeletal muscle contraction via regulation of action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in relaxation of cardiac muscle IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in relaxation of skeletal muscle IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
located_in T-tubule IEA
Inferred from Electronic Annotation
more info
 
located_in dendritic spine IEA
Inferred from Electronic Annotation
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in intercalated disc IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
located_in rough endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in smooth endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
part_of 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)

NEW Try the new Transcript table

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
    P48049, P63252
    Related
    ENSP00000243457.2, ENST00000243457.4
    Conserved Domains (3) summary
    pfam01007
    Location:48186
    IRK; Inward rectifier potassium channel
    pfam08466
    Location:147
    IRK_N; Inward rectifier potassium channel N-terminal
    pfam17655
    Location:193366
    IRK_C; Inward rectifier potassium channel C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    71047853..71058363
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)