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    KCNJ11 potassium inwardly rectifying channel subfamily J member 11 [ Homo sapiens (human) ]

    Gene ID: 3767, updated on 11-Jul-2021

    Summary

    Official Symbol
    KCNJ11provided by HGNC
    Official Full Name
    potassium inwardly rectifying channel subfamily J member 11provided by HGNC
    Primary source
    HGNC:HGNC:6257
    See related
    Ensembl:ENSG00000187486 MIM:600937
    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
    BIR; HHF2; PHHI; IKATP; PNDM2; TNDM3; KIR6.2; MODY13
    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, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
    Expression
    Broad expression in brain (RPKM 2.5), thyroid (RPKM 2.3) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KCNJ11 in Genome Data Viewer
    Location:
    11p15.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (17385246..17389346, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (17406795..17410893, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376576 Neighboring gene natural killer cell cytotoxicity receptor 3 ligand 1 Neighboring gene uncharacterized LOC107984316 Neighboring gene ATP binding cassette subfamily C member 8 Neighboring gene VISTA enhancer hs1977 Neighboring gene succinate dehydrogenase complex subunit C pseudogene 4

    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
    A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.
    GeneReviews: Not available
    Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.
    GeneReviews: Not available
    Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
    GeneReviews: Not available
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    GeneReviews: Not available
    Hyperinsulinemic hypoglycemia, familial, 2
    MedGen: C2931833 OMIM: 601820 GeneReviews: Familial Hyperinsulinism
    Compare labs
    Maturity-onset diabetes of the young, type 13 Compare labs
    Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
    GeneReviews: Not available
    Permanent neonatal diabetes mellitus Compare labs
    Permanent neonatal diabetes mellitus 2
    MedGen: C5394296 OMIM: 618856 GeneReviews: Not available
    Compare labs
    Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
    GeneReviews: Not available
    Transient neonatal diabetes mellitus 3
    MedGen: C1864623 OMIM: 610582 GeneReviews: Not available
    Compare labs
    Type 2 diabetes mellitus
    MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
    Compare labs
    Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
    GeneReviews: Not available

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC133230

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables ATP binding TAS
    Traceable Author Statement
    more info
     
    enables ATP-activated inward rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ATP-activated inward rectifier potassium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ATP-activated inward rectifier potassium channel activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables ATPase-coupled cation transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ankyrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables heat shock protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables inward rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables potassium ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein C-terminus binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables voltage-gated potassium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to nicotine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glucose metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inorganic cation transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of insulin secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nervous system process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cation channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein localization to plasma membrane 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in potassium ion transmembrane transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of insulin secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of insulin secretion TAS
    Traceable Author Statement
    more info
     
    involved_in regulation of ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of membrane potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to ATP IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to drug IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ischemia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to testosterone IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in T-tubule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in axolemma IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell body fiber IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in intercalated disc IEA
    Inferred from Electronic Annotation
    more info
     
    part_of inward rectifying potassium channel IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of inward rectifying potassium channel ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear envelope 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ATP-sensitive inward rectifier potassium channel 11
    Names
    beta-cell inward rectifier subunit
    inward rectifier K(+) channel Kir6.2
    inwardly rectifing potassium channel subfamily J member 11
    inwardly rectifying potassium channel KIR6.2
    inwardly-rectifying potassium channel subfamily J member 11
    potassium channel inwardly rectifing subfamily J member 11
    potassium channel, inwardly rectifying subfamily J member 11
    potassium voltage-gated channel subfamily J member 11

    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_012446.1 RefSeqGene

      Range
      5001..8412
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000525.4NP_000516.3  ATP-sensitive inward rectifier potassium channel 11 isoform 1

      See identical proteins and their annotated locations for NP_000516.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC124798
      Consensus CDS
      CCDS31436.1
      UniProtKB/TrEMBL
      B2RC52
      Related
      ENSP00000345708.4, ENST00000339994.5
      Conserved Domains (1) summary
      pfam01007
      Location:36357
      IRK; Inward rectifier potassium channel
    2. NM_001166290.2NP_001159762.1  ATP-sensitive inward rectifier potassium channel 11 isoform 2

      See identical proteins and their annotated locations for NP_001159762.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses a different segment for its 5' UTR and lacks 5' coding region sequence, compared to variant 1. Variant 2 uses a downstream start codon, which results in a protein (isoform 2) with a shorter N-terminus when it is compared to isoform 1. Variants 2, 3, and 4 all encode the same isoform (2).
      Source sequence(s)
      AC124798, AI377272, AK301550
      Consensus CDS
      CCDS53606.1
      UniProtKB/Swiss-Prot
      Q14654
      Related
      ENSP00000434755.1, ENST00000528731.1
      Conserved Domains (2) summary
      pfam17655
      Location:94264
      IRK_C; Inward rectifier potassium channel C-terminal domain
      cl21560
      Location:187
      Ion_trans_2; Ion channel
    3. NM_001377296.1NP_001364225.1  ATP-sensitive inward rectifier potassium channel 11 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variants 2 and 4, encodes isoform 2.
      Source sequence(s)
      AC124798
      Conserved Domains (2) summary
      pfam17655
      Location:94264
      IRK_C; Inward rectifier potassium channel C-terminal domain
      cl21560
      Location:187
      Ion_trans_2; Ion channel
    4. NM_001377297.1NP_001364226.1  ATP-sensitive inward rectifier potassium channel 11 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 2 and 3, encodes isoform 2.
      Source sequence(s)
      AC124798
      Related
      ENSP00000508090.1, ENST00000682350.1
      Conserved Domains (2) summary
      pfam17655
      Location:94264
      IRK_C; Inward rectifier potassium channel C-terminal domain
      cl21560
      Location:187
      Ion_trans_2; Ion channel

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      17385246..17389346 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017680.1XP_016873169.1  ATP-sensitive inward rectifier potassium channel 11 isoform X1

      Conserved Domains (2) summary
      pfam17655
      Location:94264
      IRK_C; Inward rectifier potassium channel C-terminal domain
      cl21560
      Location:187
      Ion_trans_2; Ion channel
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