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

Gene ID: 3767, updated on 24-Aug-2015
Official Symbol
KCNJ11provided by HGNC
Official Full Name
potassium channel, inwardly rectifying subfamily J, member 11provided by HGNC
Primary source
HGNC:HGNC:6257
See related
Ensembl:ENSG00000187486; HPRD:09022; 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
See KCNJ11 in Epigenomics, MapViewer
Location:
11p15.1
Exon count:
4
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (17364824..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 nucleobindin 2 Neighboring gene uncharacterized LOC105376575 Neighboring gene uncharacterized LOC105376576 Neighboring gene natural killer cell cytotoxicity receptor 3 ligand 1 Neighboring gene ATP-binding cassette, sub-family C (CFTR/MRP), member 8 Neighboring gene succinate dehydrogenase complex, subunit C pseudogene 4 Neighboring gene Usher syndrome 1C

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Diabetes mellitus type 2
MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
Compare labs
Islet cell hyperplasia
MedGen: C0027773 OMIM: 601820 GeneReviews: Familial Hyperinsulinism
Compare labs
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13
MedGen: CN229628 OMIM: 616329 GeneReviews: Not available
not available
Permanent neonatal diabetes mellitus Compare labs
Transient neonatal diabetes mellitus 3
MedGen: C1864623 OMIM: 610582 GeneReviews: Not available
Compare labs

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-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...
  • 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...
  • 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...
  • 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, organism-specific biosystem (from WikiPathways)
    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...
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-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
 
NOT G-protein activated inward rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
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
 
energy reserve metabolic process TAS
Traceable Author Statement
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
 
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 insulin secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of insulin secretion TAS
Traceable Author Statement
more info
 
regulation of ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
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
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
synaptic transmission 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
 
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
    4329..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, OTTHUMP00000231509, ENST00000339994, 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
    Conserved Domains (1) summary
    cl21560
    Location:1270
    Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    17364824..17389331
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718226.2XP_006718289.1  

    See identical proteins and their annotated locations for XP_006718289.1

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

RNA

  1. XR_930867.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

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