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    KCNJ11 potassium voltage-gated channel subfamily J member 11 [ Homo sapiens (human) ]

    Gene ID: 3767, updated on 23-Apr-2017
    Official Symbol
    KCNJ11provided by HGNC
    Official Full Name
    potassium voltage-gated channel subfamily J member 11provided by HGNC
    Primary source
    HGNC:HGNC:6257
    See related
    Ensembl:ENSG00000187486 MIM:600937; Vega:OTTHUMG00000165914
    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; 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]
    Orthologs
    Location:
    11p15.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (17385246..17389331, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (17406795..17410878, 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 succinate dehydrogenase complex subunit C pseudogene 4 Neighboring gene USH1 protein network component harmonin

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.
    NHGRI GWA Catalog
    Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
    NHGRI GWA Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
    NHGRI GWA Catalog
    Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
    NHGRI GWA Catalog
    Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
    NHGRI GWA Catalog

    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

    • ABC transporter disorders, organism-specific biosystem (from REACTOME)
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    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
    • ATP sensitive Potassium channels, organism-specific biosystem (from REACTOME)
      ATP sensitive Potassium channels, organism-specific biosystemATP sensitive K+ channels couple intracellular metabolism with membrane excitability. These channels are inhibited by ATP so are open in low metabolic states and close in high metabolic states, resul...
    • Cardiac conduction, organism-specific biosystem (from REACTOME)
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    • Defective ABCC8 can cause hypoglycemias and hyperglycemias, organism-specific biosystem (from REACTOME)
      Defective ABCC8 can cause hypoglycemias and hyperglycemias, organism-specific biosystemATP-binding cassette sub-family C member 8 (ABCC8) is a subunit of the beta-cell ATP-sensitive potassium channel (KATP). KATP channels play an important role in the control of insulin release. Elevat...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Disorders of transmembrane transporters, organism-specific biosystem (from REACTOME)
      Disorders of transmembrane transporters, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP hydrolysis-coupled pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to ...
    • FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem (from Pathway Interaction Database)
      FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
      FOXA2 and FOXA3 transcription factor networks
    • Insulin secretion, organism-specific biosystem (from KEGG)
      Insulin secretion, organism-specific biosystemPancreatic beta cells are specialised endocrine cells that continuously sense the levels of blood sugar and other fuels and, in response, secrete insulin to maintain normal fuel homeostasis. Glucose-...
    • Integration of energy metabolism, organism-specific biosystem (from REACTOME)
      Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
    • 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...
    • Ion homeostasis, organism-specific biosystem (from REACTOME)
      Ion homeostasis, organism-specific biosystemIon channel homeostasis in relation to cardiac conduction is described in this section (Couette et al. 2006, Bartos et al. 2015).
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • 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...
    • 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 ...
    • Regulation of insulin secretion, organism-specific biosystem (from REACTOME)
      Regulation of insulin secretion, organism-specific biosystemPancreatic beta cells integrate signals from several metabolites and hormones to control the secretion of insulin. In general, glucose triggers insulin secretion while other factors can amplify or in...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Type II diabetes mellitus, organism-specific biosystem (from KEGG)
      Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
    • Type II diabetes mellitus, conserved biosystem (from KEGG)
      Type II diabetes mellitus, conserved biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
    • Type II diabetes mellitus, organism-specific biosystem (from WikiPathways)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC133230

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    ATP binding TAS
    Traceable Author Statement
    more info
     
    ATP-activated inward rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ATP-activated inward rectifier potassium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ankyrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    heat shock protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    ion channel binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    potassium ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein C-terminus binding IEA
    Inferred from Electronic Annotation
    more info
     
    voltage-gated potassium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to nicotine IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    glucose metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of insulin secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neurological system process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cation channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein targeting to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    potassium ion import IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    potassium ion import ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cardiac conduction TAS
    Traceable Author Statement
    more info
     
    regulation of insulin secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of insulin secretion TAS
    Traceable Author Statement
    more info
     
    regulation of membrane potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to ATP IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to drug IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    response to ischemia IEA
    Inferred from Electronic Annotation
    more info
     
    response to testosterone IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    ATP-sensitive potassium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATP-sensitive potassium channel complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    T-tubule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    axolemma IEA
    Inferred from Electronic Annotation
    more info
     
    cell body fiber IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    endosome 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
     
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    voltage-gated potassium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    ATP-sensitive inward rectifier potassium channel 11
    Names
    beta-cell inward rectifier subunit
    inward rectifier K(+) channel Kir6.2
    inwardly rectifying potassium channel KIR6.2
    potassium channel inwardly rectifing subfamily J member 11
    potassium channel, inwardly rectifying subfamily J member 11
    potassium inwardly-rectifying channel, subfamily J, member 11

    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_000525.3NP_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 protein (isoform 1).
      Source sequence(s)
      AC124798, AI377272
      Consensus CDS
      CCDS31436.1
      UniProtKB/TrEMBL
      B2RC52
      Related
      ENSP00000345708.4, OTTHUMP00000231509, ENST00000339994.4, OTTHUMT00000387037
      Conserved Domains (1) summary
      pfam01007
      Location:36357
      IRK; Inward rectifier potassium channel
    2. NM_001166290.1NP_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.
      Source sequence(s)
      AC124798, AI377272, AK301550
      Consensus CDS
      CCDS53606.1
      UniProtKB/Swiss-Prot
      Q14654
      Related
      ENSP00000434755.1, OTTHUMP00000231510, ENST00000528731.1, OTTHUMT00000387038
      Conserved Domains (1) summary
      cl21560
      Location:1270
      Ion_trans_2; Ion channel

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      17385246..17389331 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 (1) summary
      cl21560
      Location:1270
      Ion_trans_2; Ion channel
    2. XM_006718226.3XP_006718289.1  ATP-sensitive inward rectifier potassium channel 11 isoform X1

      See identical proteins and their annotated locations for XP_006718289.1

      Conserved Domains (1) summary
      cl21560
      Location:1270
      Ion_trans_2; Ion channel

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      17406598..17410681 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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