Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KCNJ11 Gene

Aliases for KCNJ11 Gene

  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 11 2 3
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 11 2 3
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 11 3 4
  • Inward Rectifier K(+) Channel Kir6.2 3 4
  • IKATP 3 4
  • Potassium Channel Inwardly Rectifing Subfamily J Member 11 3
  • Inwardly Rectifying Potassium Channel KIR6.2 3
  • Beta-Cell Inward Rectifier Subunit 3
  • KIR6.2 3
  • MODY13 3
  • TNDM3 3
  • HHF2 3
  • PHHI 3
  • BIR 3

External Ids for KCNJ11 Gene

Previous GeneCards Identifiers for KCNJ11 Gene

  • GC11M018547
  • GC11M018350
  • GC11M017446
  • GC11M017372
  • GC11M017371
  • GC11M017363
  • GC11M017090
  • GC11M017406
  • GC11M017385

Summaries for KCNJ11 Gene

Entrez Gene Summary for KCNJ11 Gene

  • 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]

GeneCards Summary for KCNJ11 Gene

KCNJ11 (Potassium Channel, Inwardly Rectifying Subfamily J, Member 11) is a Protein Coding gene. Diseases associated with KCNJ11 include hyperinsulinemic hypoglycemia and intermediate dend syndrome. Among its related pathways are Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include protein C-terminus binding and voltage-gated potassium channel activity. An important paralog of this gene is KCNJ3.

UniProtKB/Swiss-Prot for KCNJ11 Gene

  • This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium (By similarity). Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with ABCC9. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.

Tocris Summary for KCNJ11 Gene

  • The inward-rectifier potassium channel family (also known as 2-TM channels) include the strong inward-rectifier channels (Kir2.x), the G-protein-activated inward-rectifier channels (Kir3.x) and the ATP-sensitive channels (Kir6.x), which combine with sulphonylurea receptors.

Gene Wiki entry for KCNJ11 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ11 Gene

Genomics for KCNJ11 Gene

Regulatory Elements for KCNJ11 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KCNJ11 Gene

Chromosome:
11
Start:
17,364,824 bp from pter
End:
17,389,331 bp from pter
Size:
24,508 bases
Orientation:
Minus strand

Genomic View for KCNJ11 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNJ11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNJ11 Gene

Proteins for KCNJ11 Gene

  • Protein details for KCNJ11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14654-KCJ11_HUMAN
    Recommended name:
    ATP-sensitive inward rectifier potassium channel 11
    Protein Accession:
    Q14654
    Secondary Accessions:
    • B4DWI4
    • E9PNK0
    • Q2M1H7
    • Q58EX3
    • Q8IW96

    Protein attributes for KCNJ11 Gene

    Size:
    390 amino acids
    Molecular mass:
    43541 Da
    Quaternary structure:
    • Interacts with ABCC8/SUR. Interacts with ABCC9/SUR2.
    SequenceCaution:
    • Sequence=AAH40617.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for KCNJ11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNJ11 Gene

Proteomics data for KCNJ11 Gene at MOPED

Post-translational modifications for KCNJ11 Gene

  • Phosphorylation by MAPK1 results in changes in channel gating that destabilize the closed states and reduce the ATP sensitivity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNJ11 Gene

Antibody Products

No data available for DME Specific Peptides for KCNJ11 Gene

Domains & Families for KCNJ11 Gene

Graphical View of Domain Structure for InterPro Entry

Q14654

UniProtKB/Swiss-Prot:

KCJ11_HUMAN :
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ11 subfamily.
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ11 subfamily.
genes like me logo Genes that share domains with KCNJ11: view

Function for KCNJ11 Gene

Molecular function for KCNJ11 Gene

GENATLAS Biochemistry:
potassium non voltage-gated channel,weakly inwardly rectifying,member 11,component with SUR1 of an ATP dependent potassium channel,expressed in pancreatic islet,beta cell
UniProtKB/Swiss-Prot Function:
This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium (By similarity). Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with ABCC9. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.

Gene Ontology (GO) - Molecular Function for KCNJ11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005242 inward rectifier potassium channel activity --
GO:0005249 voltage-gated potassium channel activity IDA 19805355
GO:0005515 protein binding --
GO:0005524 ATP binding TAS --
GO:0008022 protein C-terminus binding IEA --
genes like me logo Genes that share ontologies with KCNJ11: view
genes like me logo Genes that share phenotypes with KCNJ11: view

Animal Models for KCNJ11 Gene

MGI Knock Outs for KCNJ11:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNJ11

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNJ11 Gene

Localization for KCNJ11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ11 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNJ11 Gene COMPARTMENTS Subcellular localization image for KCNJ11 gene
Compartment Confidence
plasma membrane 4
cytosol 2
endoplasmic reticulum 2
endosome 2
mitochondrion 2
nucleus 2
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for KCNJ11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope IEA --
GO:0005739 mitochondrion IEA --
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with KCNJ11: view

Pathways & Interactions for KCNJ11 Gene

genes like me logo Genes that share pathways with KCNJ11: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for KCNJ11 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for KCNJ11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002931 response to ischemia IEA --
GO:0006006 glucose metabolic process IMP 8923010
GO:0006112 energy reserve metabolic process TAS --
GO:0006813 potassium ion transport --
GO:0007268 synaptic transmission TAS --
genes like me logo Genes that share ontologies with KCNJ11: view

Drugs & Compounds for KCNJ11 Gene

(40) Drugs for KCNJ11 Gene - From: NovoSeek, HMDB, PharmGKB, DrugBank, ApexBio, IUPHAR, DGIdb, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glyburide Approved Pharma Inhibition, Inhibitor, blocker, Target, Target, modulator Kir6 (KATP) channel blocker 100
Diazoxide Approved Pharma Activator, Target, inducer Blocks desensitization of AMPA receptors 20
Minoxidil Approved Pharma Activator Kir6 channel (KATP) opener 33
Repaglinide Approved, Investigational Pharma blocker Kir6 (KATP) channel blocker 48
Glimepiride Approved Pharma blocker, Target, inhibitor Sulfonylurea compound 214

(13) Additional Compounds for KCNJ11 Gene - From: NovoSeek, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
O-Desmethylverapamil (D-702)
ZM 226600
147695-92-9
4alpha-Phorbol 12,13-didecanoate
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
aspartate
genes like me logo Genes that share compounds with KCNJ11: view

Transcripts for KCNJ11 Gene

Unigene Clusters for KCNJ11 Gene

Potassium inwardly-rectifying channel, subfamily J, member 11:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNJ11

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ11 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1:
SP2: - -
SP3:

Relevant External Links for KCNJ11 Gene

GeneLoc Exon Structure for
KCNJ11
ECgene alternative splicing isoforms for
KCNJ11

Expression for KCNJ11 Gene

mRNA expression in normal human tissues for KCNJ11 Gene

mRNA differential expression in normal tissues according to GTEx for KCNJ11 Gene

This gene is overexpressed in Muscle - Skeletal (x20.8).

SOURCE GeneReport for Unigene cluster for KCNJ11 Gene Hs.248141

genes like me logo Genes that share expression patterns with KCNJ11: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for KCNJ11 Gene

Orthologs for KCNJ11 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNJ11 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNJ11 35
  • 91.49 (n)
  • 95.1 (a)
KCNJ11 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNJ11 35
  • 90.79 (n)
  • 96.1 (a)
KCNJ11 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnj11 35
  • 89.4 (n)
  • 95.9 (a)
Kcnj11 16
Kcnj11 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNJ11 35
  • 98.97 (n)
  • 98.97 (a)
KCNJ11 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnj11 35
  • 88.55 (n)
  • 96.15 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNJ11 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ11 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNJ11 35
  • 80.72 (n)
  • 85.19 (a)
KCNJ11 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNJ11 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492679 35
  • 68.48 (n)
  • 74.57 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnj11 35
  • 72.48 (n)
  • 77.43 (a)
kcnj11 36
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Irk3 37
  • 35 (a)
Ir 36
  • 32 (a)
ManyToMany
Irk2 36
  • 37 (a)
ManyToMany
Species with no ortholog for KCNJ11:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KCNJ11 Gene

ENSEMBL:
Gene Tree for KCNJ11 (if available)
TreeFam:
Gene Tree for KCNJ11 (if available)

Paralogs for KCNJ11 Gene

genes like me logo Genes that share paralogs with KCNJ11: view

Variants for KCNJ11 Gene

Sequence variations from dbSNP and Humsavar for KCNJ11 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs5205 -- 17,385,930(+) TCCAA(A/G)GGTCC utr-variant-3-prime, intron-variant
rs5206 -- 17,386,071(+) CAAAG(C/T)GAGTG utr-variant-3-prime, intron-variant
rs5207 -- 17,386,218(+) CTCAC(A/T)GCACG utr-variant-3-prime, intron-variant
rs5208 -- 17,386,543(+) CAGAC(A/G)CAAAG utr-variant-3-prime, intron-variant
rs5209 -- 17,386,631(+) CTGGA(C/T)GCACA utr-variant-3-prime, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNJ11 Gene

Variant ID Type Subtype PubMed ID
nsv469895 CNV Loss 16826518
nsv467712 CNV Loss 19166990
dgv59n21 CNV Loss 19592680
nsv897018 CNV Loss 21882294
nsv482158 CNV Gain 20164927
nsv467713 CNV Loss 19166990

Variation tolerance for KCNJ11 Gene

Residual Variation Intolerance Score: 36.53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.87; 48.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNJ11 Gene

HapMap Linkage Disequilibrium report
KCNJ11
Human Gene Mutation Database (HGMD)
KCNJ11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ11 Gene

Disorders for KCNJ11 Gene

MalaCards: The human disease database

(39) MalaCards diseases for KCNJ11 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
hyperinsulinemic hypoglycemia
  • nesidioblastosis
intermediate dend syndrome
  • developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form
kcnj11-related hyperinsulinism
kcnj11-related permanent neonatal diabetes mellitus
autosomal dominant hyperinsulinism due to kir6.2 deficiency
  • autosomal dominant hyperinsulinemic hypoglycemia due to kir6.2 deficiency
- elite association

UniProtKB/Swiss-Prot

KCJ11_HUMAN
  • Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]: A rare form of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy. {ECO:0000269 PubMed:15115830, ECO:0000269 PubMed:15292329, ECO:0000269 PubMed:15448106, ECO:0000269 PubMed:15448107, ECO:0000269 PubMed:15580558, ECO:0000269 PubMed:16609879, ECO:0000269 PubMed:16731833, ECO:0000269 PubMed:17213273, ECO:0000269 PubMed:17652641, ECO:0000269 PubMed:20022885}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. {ECO:0000269 PubMed:10204114, ECO:0000269 PubMed:12364426, ECO:0000269 PubMed:15562009, ECO:0000269 PubMed:15579781, ECO:0000269 PubMed:15807877, ECO:0000269 PubMed:15998776, ECO:0000269 PubMed:16332676, ECO:0000269 PubMed:16357843, ECO:0000269 PubMed:18596924, ECO:0000269 PubMed:19357197, ECO:0000269 PubMed:7847376, ECO:0000269 PubMed:8923010}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Maturity-onset diabetes of the young 13 (MODY13) [MIM:616329]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269 PubMed:22701567}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in KCNJ11 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also known as diabetes mellitus type 2.
  • Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582]: Neonatal diabetes mellitus, defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. In a significant number of patients with transient neonatal diabetes mellitus, diabetes type 2 appears later in life. The onset and severity of TNDM3 is variable with childhood-onset diabetes, gestational diabetes or adult-onset diabetes described. {ECO:0000269 PubMed:15718250, ECO:0000269 PubMed:15784703}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KCNJ11

Genetic Association Database (GAD)
KCNJ11
Human Genome Epidemiology (HuGE) Navigator
KCNJ11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNJ11
genes like me logo Genes that share disorders with KCNJ11: view

No data available for Genatlas for KCNJ11 Gene

Publications for KCNJ11 Gene

  1. Molecular mechanisms of the inhibitory effects of propofol and thiamylal on sarcolemmal adenosine triphosphate-sensitive potassium channels. (PMID: 14739809) Kawano T. … Nakaya Y. (Anesthesiology 2004) 23 25 26 67
  2. Glibenclamide binding to sulphonylurea receptor subtypes: dependence on adenine nucleotides. (PMID: 12145099) Hambrock A. … Quast U. (Br. J. Pharmacol. 2002) 23 25 26 67
  3. MCC-134, a novel vascular relaxing agent, is an inverse agonist for the pancreatic-type ATP-sensitive K(+) channel. (PMID: 10604939) Shindo T. … Kurachi Y. (J. Pharmacol. Exp. Ther. 2000) 23 25 26 67
  4. Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. (PMID: 7502040) Inagaki N. … Bryan J. (Science 1995) 2 23 67
  5. Cardiac sarcolemmal K(ATP) channels: Latest twists in a questing tale! (PMID: 19607836) Zhang H. … Nichols C.G. (J. Mol. Cell. Cardiol. 2010) 23 67

Products for KCNJ11 Gene

Sources for KCNJ11 Gene

Back to Top

Content