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

    Gene ID: 3767, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:6257
    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
    mouse all
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    Genomic context

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    See KCNJ11 in Genome Data Viewer
    Location:
    11p15.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (17385248..17389346, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (17482848..17486946, complement)
    RS_2024_09 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 nucleobindin 2 Neighboring gene uncharacterized LOC124902640 Neighboring gene uncharacterized LOC105376576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17373285-17373886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17373887-17374488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4488 Neighboring gene natural killer cell cytotoxicity receptor 3 ligand 1 Neighboring gene MPRA-validated peak1220 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr11:17397887-17398425 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:17399732-17400931 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:17408081-17408734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:17408735-17409388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3185 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3186 Neighboring gene Sharpr-MPRA regulatory region 5134 Neighboring gene VISTA enhancer hs1977 Neighboring gene ATP binding cassette subfamily C member 8 Neighboring gene SDHC pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17497048-17497604 Neighboring gene uncharacterized LOC124902641

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas. Dupont J, et al. J Pediatr Endocrinol Metab, 2012. PMID 22768671
    2. Mutations in KCNJ11 are associated with the development of autosomal dominant, early-onset type 2 diabetes. Liu L, et al. Diabetologia, 2013 Dec. PMID 24018988, Free PMC Article
    3. Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. Shimomura K, et al. Diabetes, 2006 Jun. PMID 16731833
    4. Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression. Lin YW, et al. PLoS One, 2013. PMID 23667671, Free PMC Article
    5. The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.2) gene is associated with impaired glucagon suppression in response to hyperglycemia. Tschritter O, et al. Diabetes, 2002 Sep. PMID 12196481

    See all (421) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential Association with Diabetes Mellitus.
      Title: Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential Association with Diabetes Mellitus.
    2. An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population.
      Title: An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population.
    3. Repurposing antidiabetic drugs for rheumatoid arthritis: results from a two-sample Mendelian randomization study.
      Title: Repurposing antidiabetic drugs for rheumatoid arthritis: results from a two-sample Mendelian randomization study.
    4. Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans.
      Title: Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans.
    5. Protection against Ischemic Heart Disease: A Joint Role for eNOS and the KATP Channel.
      Title: Protection against Ischemic Heart Disease: A Joint Role for eNOS and the K(ATP) Channel.
    6. Risk of type 2 diabetes and KCNJ11 gene polymorphisms: a nested case-control study and meta-analysis.
      Title: Risk of type 2 diabetes and KCNJ11 gene polymorphisms: a nested case-control study and meta-analysis.
    7. Association of KCNJ11 and ABCC8 single-nucleotide polymorphisms with type 2 diabetes mellitus in a Kinh Vietnamese population.
      Title: Association of KCNJ11 and ABCC8 single-nucleotide polymorphisms with type 2 diabetes mellitus in a Kinh Vietnamese population.
    8. Clinical presentation and long-term outcome of patients with KCNJ11/ABCC8 variants: Neonatal diabetes or MODY in the DPV registry from Germany and Austria.
      Title: Clinical presentation and long-term outcome of patients with KCNJ11/ABCC8 variants: Neonatal diabetes or MODY in the DPV registry from Germany and Austria.
    9. The E23K Polymorphism of KCNJ11 and Diabetic Retinopathy in Northern Iran.
      Title: The E23K Polymorphism of KCNJ11 and Diabetic Retinopathy in Northern Iran.
    10. KCNJ11 and KCNQ1 Gene Polymorphisms and Placental Expression in Women with Gestational Diabetes Mellitus.
      Title: KCNJ11 and KCNQ1 Gene Polymorphisms and Placental Expression in Women with Gestational Diabetes Mellitus.
    Submit: New GeneRIF Correction See all GeneRIFs (296)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    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 monoatomic 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 potassium ion binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 monoatomic ion channel activity involved in regulation of presynaptic membrane potential IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables voltage-gated potassium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in CAMKK-AMPK signaling cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in action potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 nutrient levels IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in determination of adult lifespan 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 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
    		  
    involved_in potassium ion import across plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 membrane potential 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 presynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to ATP IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to ischemia IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to resveratrol IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to testosterone IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to xenobiotic stimulus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ventricular cardiac muscle tissue development 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 endosome 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
    		  
    part_of inward rectifying potassium channel IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of inward rectifying potassium channel IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of inward rectifying potassium channel ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of inward rectifying potassium channel ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    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)

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    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_000525.4 → NP_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/Swiss-Prot
      B4DWI4, E9PNK0, Q14654, Q2M1H7, Q58EX3, Q8IW96
      UniProtKB/TrEMBL
      B2RC52, D2K1F9, V5QDK6, V5QEK6, V5QFN8
      Related
      ENSP00000345708.4, ENST00000339994.5
      Conserved Domains (1) summary
      pfam01007
      Location:36 → 357
      IRK; Inward rectifier potassium channel

    2. NM_001166290.2 → NP_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/TrEMBL
      A0A804HHV7
      Related
      ENSP00000434755.1, ENST00000528731.1
      Conserved Domains (2) summary
      pfam17655
      Location:94 → 264
      IRK_C; Inward rectifier potassium channel C-terminal domain
      cl21560
      Location:1 → 87
      Ion_trans_2; Ion channel

    3. NM_001377296.1 → NP_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
      Consensus CDS
      CCDS53606.1
      UniProtKB/TrEMBL
      A0A804HHV7
      Conserved Domains (2) summary
      pfam17655
      Location:94 → 264
      IRK_C; Inward rectifier potassium channel C-terminal domain
      cl21560
      Location:1 → 87
      Ion_trans_2; Ion channel

    4. NM_001377297.1 → NP_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
      Consensus CDS
      CCDS53606.1
      UniProtKB/TrEMBL
      A0A804HHV7
      Related
      ENSP00000508090.1, ENST00000682350.1
      Conserved Domains (2) summary
      pfam17655
      Location:94 → 264
      IRK_C; Inward rectifier potassium channel C-terminal domain
      cl21560
      Location:1 → 87
      Ion_trans_2; Ion channel

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      17385248..17389346 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      17482848..17486946 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14654.3 GenPept UniProtKB/Swiss-Prot:Q14654

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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