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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
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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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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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