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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
  • TNDM3 3 6
  • IKATP 3 4
  • PHHI 3 6
  • HHF2 3 6
  • BIR 3 6
  • Potassium Channel Inwardly Rectifing Subfamily J Member 11 3
  • ATP-Sensitive Inward Rectifier Potassium Channel 11 3
  • Inwardly Rectifying Potassium Channel KIR6.2 3
  • Beta-Cell Inward Rectifier Subunit 3
  • KIR6.2 3

External Ids for KCNJ11 Gene

Previous GeneCards Identifiers for KCNJ11 Gene

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

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 diabetes mellitus, permanent neonatal and hyperinsulinemic hypoglycemia, familial, 2. Among its related pathways are Metabolism and Transmission across Chemical Synapses. 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 (SUR)). Structurally, the pore-forming subunit of KIR channels is the alpha-subunit. It contains a single pore domain between two membrane spanning regions. Four alpha-subunits combine to form a tetramer, with the pore domain of each subunit contributing to the structure of the central pore. Heteromeric channels can also be formed within subfamilies, e.g. KIR3.2 with KIR3.3.

Gene Wiki entry for KCNJ11 Gene

PharmGKB "VIP" Summary for KCNJ11 Gene

No data available for fRNAdb sequence ontologies and piRNA Summary for KCNJ11 Gene

Genomics for KCNJ11 Gene

Regulatory Elements for KCNJ11 Gene

Genomic Location for KCNJ11 Gene

Start:
17,385,237 bp from pter
End:
17,389,331 bp from pter
Size:
4,095 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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNJ11 Gene

Domains for KCNJ11 Gene

Gene Families for KCNJ11 Gene

HGNC:
  • KCN :Potassium channels
  • KCNJ :Voltage-gated ion channels / Potassium channels, Inwardly rectifying
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

Q14654

UniProtKB/Swiss-Prot:

KCJ11_HUMAN :
  • Q14654
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 ISS 12860923
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:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
endoplasmic reticulum 2
mitochondrion 2
cytoskeleton 1
extracellular 1
nucleus 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 for KCNJ11 Gene

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

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 15115830
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

Compounds for KCNJ11 Gene

(5) Tocris Compounds for KCNJ11 Gene

Compound Action Cas Number
Glibenclamide Kir6 (KATP) channel blocker [10238-21-8]
Levcromakalim Kir6 (KATP) channel opener; active enantiomer of cromakalim (Cat. No. 1377) [94535-50-9]
ML 133 hydrochloride Kir2 channel blocker [1222781-70-5]
Tertiapin-Q Selective blocker of inward-rectifier K+ channels [252198-49-5]
VU 590 dihydrochloride Inhibitor of Kir1.1 (ROMK) and Kir7.1 [313505-85-0]

(4) HMDB Compounds for KCNJ11 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Magnesium
  • Magnesium
7439-95-4
Potassium
  • K+
7440-09-7
Verapamil
  • Akilen
52-53-9

(7) Drugbank Compounds for KCNJ11 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Diazoxide
364-98-7 target inducer
Glimepiride
  • Glimepirid
93479-97-1 target inhibitor
Glyburide
  • Apo-Glibenclamide
10238-21-8 target modulator
Ibutilide
  • Ibutilida [INN-Spanish]
122647-32-9 target inhibitor
Levosimendan
141505-33-1 target inducer

(6) IUPHAR Ligand for KCNJ11 Gene

Ligand Type Action Affinity Pubmed IDs
minoxidil Activator None
nicorandil Activator None
glibenclamide Inhibitor Inhibition
diazoxide Activator None
tolbutamide Inhibitor None
cromakalim Activator None

(26) Novoseek inferred chemical compound relationships for KCNJ11 Gene

Compound -log(P) Hits PubMed IDs
katp 95.3 138
sulfonylurea 95.3 117
potassium 84 102
mgadp 82.1 7
diazoxide 81.9 3

(4) PharmGKB related drug/compound annotations for KCNJ11 Gene

Drug/compound Annotation
"sulfonamides, urea derivatives" CA
gliclazide CA
metformin CA
repaglinide CA
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:

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 (20.8).

SOURCE GeneReport for Unigene cluster for KCNJ11 Gene Hs.248141

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein expression and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia KCNJ11 35
  • 98.97 (n)
  • 98.97 (a)
KCNJ11 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia KCNJ11 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ11 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnj11 35
  • 88.55 (n)
  • 96.15 (a)
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 Ir 36
  • 32 (a)
ManyToMany
Irk2 36
  • 37 (a)
ManyToMany
Irk3 37
  • 35 (a)
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
rs5206 -- 17,386,071(+) CAAAG(C/T)GAGTG utr-variant-3-prime
rs5207 -- 17,386,218(+) CTCAC(A/T)GCACG utr-variant-3-prime
rs5208 -- 17,386,543(+) CAGAC(A/G)CAAAG utr-variant-3-prime
rs5209 -- 17,386,631(+) CTGGA(C/T)GCACA utr-variant-3-prime

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

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

(4) OMIM Diseases for KCNJ11 Gene (600937)

UniProtKB/Swiss-Prot

KCJ11_HUMAN
  • 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:7847376, ECO:0000269 PubMed:8923010}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.
  • Note=Defects in KCNJ11 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also known as diabetes mellitus type 2.

(20) Novoseek inferred disease relationships for KCNJ11 Gene

Disease -log(P) Hits PubMed IDs
neonatal diabetes mellitus 94.1 23
hyperinsulinism 93.8 29
hypoglycemia 80.7 12
developmental delay 68.2 9
hyperammonemia 53.8 1

Relevant External Links for KCNJ11

GeneTests
KCNJ11
GeneReviews
KCNJ11
Genetic Association Database (GAD)
KCNJ11
Human Genome Epidemiology (HuGE) Navigator
KCNJ11
genes like me logo Genes that share disorders with KCNJ11: view

Publications for KCNJ11 Gene

  1. Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. (PMID: 7502040) Inagaki N. … Bryan J. (Science 1995) 2 3 4 23
  2. Sequence variations in the human Kir6.2 gene, a subunit of the beta- cell ATP-sensitive K-channel: no association with NIDDM in white Caucasian subjects or evidence of abnormal function when expressed in vitro. (PMID: 8897013) Sakura H. … Ashcroft F.M. (Diabetologia 1996) 3 4 23 48
  3. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. (PMID: 15115830) Gloyn A.L. … Hattersley A.T. (N. Engl. J. Med. 2004) 3 4 23 48
  4. Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. (PMID: 12540637) Gloyn A.L. … Frayling T.M. (Diabetes 2003) 3 23 48
  5. Analysis of the type 2 diabetes-associated single nucleotide polymorphisms in the genes IRS1, KCNJ11, and PPARG2 in type 1 diabetes. (PMID: 14988278) Eftychi C. … Todd J.A. (Diabetes 2004) 3 23 48

Products for KCNJ11 Gene

Sources for KCNJ11 Gene

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