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

    Gene ID: 3759, updated on 23-Nov-2023

    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
    NEW
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    Genomic context

    See KCNJ2 in Genome Data Viewer
    Location:
    17q24.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (70169532..70180044)
    RS_2023_10 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 ATAC-STARR-seq lymphoblastoid silent region 8907 Neighboring gene KCNJ2 antisense RNA 1 Neighboring gene calmodulin 2 pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr17:68289713-68290214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12661 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:68362434-68363035 Neighboring gene uncharacterized LOC124904100 Neighboring gene MPRA-validated peak2978 silencer

    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

    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 response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular potassium ion homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    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
     
    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 membrane repolarization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of monoatomic ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 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
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic membrane 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
      O15110, P48049, P63252
      UniProtKB/TrEMBL
      B2RA82
      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: GCF_000001405.40-RS_2023_10

    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)