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Aliases for KCNJ11 Gene

Aliases for KCNJ11 Gene

  • Potassium Voltage-Gated Channel Subfamily J Member 11 2 3 5
  • 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
  • ATP-Sensitive Inward Rectifier Potassium Channel 11 3
  • Inwardly Rectifying Potassium Channel KIR6.2 3
  • Beta-Cell Inward Rectifier Subunit 3
  • KIR6.2 3
  • MODY13 3
  • TNDM3 3
  • PHHI 3
  • HHF2 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 Voltage-Gated Channel Subfamily J Member 11) is a Protein Coding gene. Diseases associated with KCNJ11 include Hyperinsulinemic Hypoglycemia, Familial, 2 and Diabetes Mellitus, Transient Neonatal, 3. Among its related pathways are Inwardly rectifying K+ channels and Metabolism. GO annotations related to this gene include protein C-terminus binding and voltage-gated potassium channel activity. An important paralog of this gene is KCNJ8.

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

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

Enhancers for KCNJ11 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F017351 0.9 FANTOM5 ENCODE 24.2 +36.3 36307 3.5 PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 KLF13 SP3 SP5 NCR3LG1 KCNJ11 RPS13 LOC105376576 PIR55310
GH11F017388 0.2 ENCODE 20.5 -0.1 -125 1.6 PKNOX1 KLF17 ARID4B ZNF48 ZNF2 RAD21 GLIS2 GATA2 KLF7 EGR2 KCNJ11 NCR3LG1 RPS13 GC11P017401
GH11F017385 1 Ensembl ENCODE 19.7 +2.9 2859 1.7 CTCF CBX3 ARID4B MAX BCL11B RAD21 TEAD3 HIC1 ZNF143 SMC3 KCNJ11 NCR3LG1 GC11M017380 GC11P017387
GH11F017412 1.4 VISTA ENCODE 18.9 -24.7 -24719 2.2 CTCF MAFG RAD21 YY1 ZNF316 ZFHX2 MAFF HMBOX1 EMSY MAFK KCNJ11 ABCC8 GC11M017409 GC11M017416
GH11F017383 1.1 Ensembl ENCODE 18 +5.3 5314 0.8 HDAC1 CTCF ZNF2 RAD21 YY1 ZNF316 ZNF766 POLR2A ZBTB48 ZNF143 NCR3LG1 KCNJ11 ENSG00000260196 GC11M017380 GC11P017387
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KCNJ11 on UCSC Golden Path with GeneCards custom track

Promoters for KCNJ11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000188114 130 1600 KLF17 ARID4B ZNF48 ZNF2 RAD21 GLIS2 GATA2 KLF7 EGR2 SP3

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

Genes around KCNJ11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNJ11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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

No data available for DME Specific Peptides for KCNJ11 Gene

Domains & Families for KCNJ11 Gene

Gene 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 IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IDA 19805355
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

Human Phenotype Ontology for KCNJ11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNJ11 Gene

MGI Knock Outs for KCNJ11:

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNJ11

Inhibitory RNA 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 5
cytosol 3
endoplasmic reticulum 3
mitochondrion 3
nucleus 3
endosome 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

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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
genes like me logo Genes that share ontologies with KCNJ11: view

Drugs & Compounds for KCNJ11 Gene

(45) Drugs for KCNJ11 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glyburide Approved Pharma Channel blocker, blocker, Target, Target, modulator Kir6 (KATP) channel blocker 111
Nicorandil Approved Pharma Activator, activator Potassium channel activator, Kir6 (KATP) channel opener and NO donor 17
Repaglinide Approved, Investigational Pharma blocker Kir6 (KATP) channel blocker 51
Diazoxide Approved Pharma Activator, Target, inducer 22
Glimepiride Approved Pharma blocker, Target, inhibitor Sulfonylurea compound 230

(11) Additional Compounds for KCNJ11 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
O-Desmethylverapamil (D-702)

(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
Nicorandil Kir6 (KATP) channel opener and NO donor 65141-46-0
Tertiapin-Q Selective blocker of inward-rectifier K+ channels 252198-49-5
Y-26763 Kir6 (KATP) channel opener 127408-31-5

(16) ApexBio Compounds for KCNJ11 Gene

Compound Action Cas Number
Amiodarone HCl Anti-arrhythmic drug 19774-82-4
Dofetilide 115256-11-6
Dronedarone HCl Antiarrhythmic drugs 141625-93-6
Gliclazide 21187-98-4
Glipizide 29094-61-9
Gliquidone 33342-05-1
Glyburide 10238-21-8
Hydralazine HCl 304-20-1
Indapamide 26807-65-8
Minoxidil 38304-91-5
Mitiglinide Calcium 145525-41-3
ML133 HCl Potassium channel inhibitor for Kir2.1 1222781-70-5
Nateglinide Insulin secretagog agent 105816-04-4
Nicorandil Potassium channel activator 65141-46-0
Repaglinide Kir6 (KATP) channel blocker 135062-02-1
TRAM-34 KCa3.1 blocker,potent and highly selective 289905-88-0
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

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 from GTEx, Illumina, BioGPS, and SAGE for KCNJ11 Gene

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

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

NURSA nuclear receptor signaling pathways regulating expression of KCNJ11 Gene:

KCNJ11

SOURCE GeneReport for Unigene cluster for KCNJ11 Gene:

Hs.248141
genes like me logo Genes that share expression patterns with KCNJ11: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners 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 34 35
  • 98.97 (n)
cow
(Bos Taurus)
Mammalia KCNJ11 34 35
  • 91.49 (n)
dog
(Canis familiaris)
Mammalia KCNJ11 34 35
  • 90.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KCNJ11 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnj11 34 16 35
  • 89.4 (n)
rat
(Rattus norvegicus)
Mammalia Kcnj11 34
  • 88.55 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNJ11 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNJ11 34 35
  • 80.72 (n)
lizard
(Anolis carolinensis)
Reptilia KCNJ11 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492679 34
  • 68.48 (n)
zebrafish
(Danio rerio)
Actinopterygii kcnj11 34 35
  • 72.48 (n)
fruit fly
(Drosophila melanogaster)
Insecta Irk2 35
  • 37 (a)
ManyToMany
Irk3 36
  • 35 (a)
Ir 35
  • 32 (a)
ManyToMany
Species where no ortholog for KCNJ11 was found in the sources mined by GeneCards:
  • 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
rs28936678 Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820], Pathogenic 17,387,652(-) CATCC(C/T)GATCC reference, missense
rs5219 drug-response 17,388,025(+) GGGCT(C/T)GGCAG intron-variant, reference, missense
VAR_026498 Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
VAR_026499 Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
VAR_026500 Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]

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

Variant ID Type Subtype PubMed ID
dgv59n21 CNV loss 19592680
nsv1118206 CNV deletion 24896259
nsv467712 CNV loss 19166990
nsv467713 CNV loss 19166990
nsv469895 CNV loss 16826518
nsv482158 CNV gain 20164927
nsv553567 CNV gain 21841781
nsv553583 CNV loss 21841781
nsv553584 CNV loss 21841781

Variation tolerance for KCNJ11 Gene

Residual Variation Intolerance Score: 36.5% 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

Human Gene Mutation Database (HGMD)
KCNJ11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNJ11

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

Disorders for KCNJ11 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hyperinsulinemic hypoglycemia, familial, 2
  • hyperinsulinemic hypoglycemia
diabetes mellitus, transient neonatal, 3
  • transient neonatal diabetes mellitus 3
maturity-onset diabetes of the young, type 13
  • maturity-onset diabetes of the young 13
diabetes mellitus, permanent neonatal
  • diabetes, permanent neonatal
intermediate dend syndrome
  • developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form
- elite association - COSMIC cancer census association via MalaCards

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. 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 22 46 64
  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 22 46 64
  3. Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. (PMID: 7502040) Inagaki N. … Bryan J. (Science 1995) 2 3 4 22 64
  4. Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. (PMID: 20164212) Flanagan S.E. … Ellard S. (Eur. J. Endocrinol. 2010) 3 22 46 64
  5. Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism. (PMID: 19357197) Taneja T.K. … Sivaprasadarao A. (Hum. Mol. Genet. 2009) 3 4 22 64

Products for KCNJ11 Gene

Sources for KCNJ11 Gene

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