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KCNJ11 Gene(Protein Coding)

Potassium Voltage-Gated Channel Subfamily J Member 11

GCID:
GC11M017364
GIFtS:
57
Genes Participants
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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
  • Inwardly-Rectifying Potassium Channel Subfamily J Member 11 3
  • Inwardly Rectifing Potassium Channel Subfamily J Member 11 3
  • 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 Diabetes Mellitus, Permanent Neonatal and Hyperinsulinemic Hypoglycemia, Familial, 2. Among its related pathways are Cardiac conduction and Inwardly rectifying K+ channels. Gene Ontology (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

Additional gene information for KCNJ11 Gene

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

Genomics for KCNJ11 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for KCNJ11 Gene

Promoters and enhancers for KCNJ11 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11I017388 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 570.5 -0.1 -107 1.7 ARID4B NEUROD1 ZNF2 ZNF48 GLIS2 ZNF143 KLF7 SP3 NFYC PPARG KCNJ11 NCR3LG1 RPS13 GC11P017387 GC11P017401
GH11I017351 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 24.2 +36.3 36307 3.5 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 POLR2B ZNF213 NCR3LG1 LOC105376576 KCNJ11 RPS13 PIR55310
GH11I017412 Enhancer 1.2 VISTA ENCODE dbSUPER 18.9 -24.7 -24718 2.2 CTCF RXRA MAFG CBFA2T3 RFX5 YY1 ZNF316 MAFF CBFA2T2 HNF4A KCNJ11 ABCC8 GC11M017409 GC11P017401 GC11M017416
GH11I017385 Enhancer 1.1 Ensembl ENCODE dbSUPER 19.7 +2.8 2791 1.6 CTCF FOXA2 ZNF449 ARID4B MAX RAD21 BCL11B TEAD3 HIC1 FOXK2 GC11P017387 KCNJ11 NCR3LG1 GC11M017380
GH11I017438 Enhancer 1.1 ENCODE dbSUPER 11 -50.1 -50065 1.2 ELF3 FOXA2 MLX ARID4B KLF17 FEZF1 DNMT3B RARA THAP11 HMG20B ABCC8 KCNJ11 SDHCP4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KCNJ11 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNJ11 gene promoter:

Genomic Locations for KCNJ11 Gene

Genomic Locations for KCNJ11 Gene
chr11:17,364,824-17,389,331
(GRCh38/hg38)
Size:
24,508 bases
Orientation:
Minus strand
chr11:17,406,795-17,410,878
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for KCNJ11 Gene

Proteins for KCNJ11 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNJ11 Gene

Domains & Families for KCNJ11 Gene

Gene Families for KCNJ11 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Protein Domains for KCNJ11 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KCNJ11 Gene

GenScript: Design optimal peptide antigens:

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

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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.

Phenotypes From GWAS Catalog for KCNJ11 Gene

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:0005515 protein binding IPI 19805355
GO:0005524 ATP binding TAS --
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

CRISPR Products

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNJ11 gene
Compartment Confidence
plasma membrane 5
mitochondrion 3
nucleus 3
endoplasmic reticulum 3
cytosol 3
endosome 2
extracellular 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for KCNJ11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005635 nuclear envelope IEA --
GO:0005739 mitochondrion IEA --
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with KCNJ11: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNJ11 Gene

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

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  1. Drug

(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, Target, Target, blocker Kir6 (KATP) channel blocker 116
Nicorandil Approved, Investigational Pharma Activator, activator Potassium channel activator, Kir6 (KATP) channel opener and NO donor 19
Repaglinide Approved, Investigational Pharma blocker Kir6 (KATP) channel blocker 52
Diazoxide Approved Pharma Activator, Target, inducer 22
Glimepiride Approved Pharma Target, inhibitor, blocker Sulfonylurea compound 238

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

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
Minoxidil Kir6 channel (KATP) opener 38304-91-5
Nicorandil Kir6 (KATP) channel opener and NO donor 65141-46-0
P1075 Potent Kir6 (KATP) channel opener 60559-98-0
ZM 226600 Kir6 (KATP) channel opener 147695-92-9

(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

Drug Products

Transcripts for KCNJ11 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KCNJ11 Gene

(4) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(24) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNJ11 Gene

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

CRISPR Products

Inhibitory RNA 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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNJ11 Gene

mRNA expression in normal human tissues for KCNJ11 Gene
mRNA expression by GTEx 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

Evidence on tissue expression from TISSUES for KCNJ11 Gene

  • Spleen(4.2)
  • Pancreas(3.2)
  • Muscle(2.8)
  • Heart(2.6)
  • Nervous system(2.4)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNJ11 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • nose
  • skull
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
  • adrenal gland
  • kidney
  • pancreas
Pelvis:
  • penis
  • placenta
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with KCNJ11: view

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 33 34
  • 98.97 (n)
cow
(Bos Taurus)
 Mammalia KCNJ11 33 34
  • 91.49 (n)
dog
(Canis familiaris)
 Mammalia KCNJ11 33 34
  • 90.79 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia KCNJ11 34
  • 90 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Kcnj11 33 16 34
  • 89.4 (n)
rat
(Rattus norvegicus)
 Mammalia Kcnj11 33
  • 88.55 (n)
oppossum
(Monodelphis domestica)
 Mammalia KCNJ11 34
  • 87 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves KCNJ11 33 34
  • 80.72 (n)
lizard
(Anolis carolinensis)
 Reptilia KCNJ11 34
  • 80 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100492679 33
  • 68.48 (n)
zebrafish
(Danio rerio)
 Actinopterygii kcnj11 33 34
  • 72.48 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Irk2 34
  • 37 (a)
 ManyToMany
Irk3 35
  • 35 (a)
Ir 34
  • 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

Paralogs for KCNJ11 Gene

(16) SIMAP similar genes for KCNJ11 Gene using alignment to 6 proteins:

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

Variants for KCNJ11 Gene

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Sequence variations from dbSNP and Humsavar for KCNJ11 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1014188705 uncertain-significance, Hyperinsulinism, Dominant/Recessive, Transient Neonatal Diabetes, Dominant, Maturity-onset diabetes of the young 17,388,637(-) C/A 5_prime_UTR_variant, intron_variant
rs1029730923 uncertain-significance, Transient Neonatal Diabetes, Dominant, Hyperinsulinism, Dominant/Recessive, Maturity-onset diabetes of the young 17,385,864(-) A/T 3_prime_UTR_variant
rs104894236 pathogenic, Islet cell hyperplasia 17,388,056(-) G/A/T coding_sequence_variant, intron_variant, stop_gained, synonymous_variant
rs104894237 pathogenic, Islet cell hyperplasia 17,387,331(-) G/A coding_sequence_variant, missense_variant
rs104894248 pathogenic, Islet cell hyperplasia 17,387,316(-) T/C coding_sequence_variant, missense_variant

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)

Additional Variant Information 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

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

- 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:15583126, ECO:0000269 PubMed:16609879, ECO:0000269 PubMed:16731833, ECO:0000269 PubMed:17213273, ECO:0000269 PubMed:17652641, ECO:0000269 PubMed:17855752, ECO:0000269 PubMed:20022885, ECO:0000269 PubMed:28842488}. 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.

Additional Disease Information for KCNJ11

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 AL … Hattersley AT (The New England journal of medicine 2004) 3 4 22 44 58
  2. Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in while Caucasian subjects or evidence of abnormal function when expressed in vitro. (PMID: 8897013) Sakura H … Ashcroft FM (Diabetologia 1996) 3 4 22 44 58
  3. Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. (PMID: 7502040) Inagaki N … Bryan J (Science (New York, N.Y.) 1995) 2 3 4 22 58
  4. Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. (PMID: 20164212) Flanagan SE … Ellard S (European journal of endocrinology 2010) 3 22 44 58
  5. Effect of genetic variants in KCNJ11, ABCC8, PPARG and HNF4A loci on the susceptibility of type 2 diabetes in Chinese Han population. (PMID: 20079163) Wang F … Ji LN (Chinese medical journal 2009) 3 22 44 58

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