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
External Ids for KCNJ11 Gene
- HGNC: 6257
- Entrez Gene: 3767
- Ensembl: ENSG00000187486
- OMIM: 600937
- UniProtKB: Q14654
Previous GeneCards Identifiers for KCNJ11 Gene
- GC11M018547
- GC11M018350
- GC11M017446
- GC11M017372
- GC11M017371
- GC11M017363
- GC11M017090
- GC11M017406
- GC11M017385
Summaries 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Type II diabetes mellitus. 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.
-
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.
No data available for CIViC summary , 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 |
|---|---|---|---|---|---|---|---|---|
| GH11G017351 | 1.5 | FANTOM5 ENCODE | 24.2 | +36.3 | 36307 | 3.5 | PKNOX1 FOXA2 MLX CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 | NCR3LG1 KCNJ11 RPS13 LOC105376576 PIR55310 |
| GH11G017412 | 1.4 | VISTA ENCODE dbSUPER | 18.9 | -24.7 | -24719 | 2.2 | CTCF MAFG RAD21 YY1 ZFHX2 ZNF316 MAFF EGR1 HMBOX1 HNF4A | KCNJ11 ABCC8 GC11M017409 GC11M017416 |
| GH11G017385 | 1.3 | Ensembl ENCODE dbSUPER | 19.7 | +2.8 | 2791 | 1.6 | CTCF FOXA2 CBX3 ARID4B MAX BCL11B RAD21 TEAD3 HIC1 FOXK2 | KCNJ11 NCR3LG1 GC11M017380 GC11P017387 |
| GH11G017388 | 1.2 | ENCODE dbSUPER | 20.5 | -0.1 | -125 | 1.6 | PKNOX1 ARID4B ZNF2 ZNF48 GLIS2 GATA2 ZNF143 KLF7 SP3 ZHX2 | KCNJ11 NCR3LG1 RPS13 GC11P017401 |
| GH11G017438 | 1.2 | ENCODE dbSUPER | 11 | -50.1 | -50065 | 1.2 | ELF3 FOXA2 MLX ARID4B KLF17 FEZF1 DNMT3B RARA THAP11 HMG20B | ABCC8 KCNJ11 SDHCP4 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around KCNJ11 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the KCNJ11 gene promoter:
Regulatory Element Products
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:
-
- 11p15.1 by Ensembl
- 11p15.1 by Entrez Gene
- 11p15.1 by HGNC
KCNJ11 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
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:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for KCNJ11
- Novus Biologicals Antibodies for KCNJ11
- Invitrogen Antibodies for KCNJ11
- antibodies-online Antibodies for KCNJ11: See all 145
- GeneTex KCNJ11 antibody for KCNJ11
-
Santa Cruz Biotechnology (SCBT) Antibodies for KCNJ11
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for KCNJ11
- Origene Custom Protein Services for KCNJ11
- Novus Biologicals proteins for KCNJ11
- antibodies-online Proteins for KCNJ11: See all 3
- Search antibodies-online for peptides
- Search GeneTex for Proteins for KCNJ11
Assay Products
- antibodies-online Kits for KCNJ11: See all 9
No data available for DME Specific Peptides for KCNJ11 Gene
Domains & Families for KCNJ11 Gene
Gene Families for KCNJ11 Gene
- HGNC:
- IUPHAR :
Protein Domains for KCNJ11 Gene
Suggested Antigen Peptide Sequences for KCNJ11 Gene
- GenScript: Design optimal peptide antigens:
-
- Mutant potassium inwardly-rectifying channel subfamily J member 11 (C5IU89_HUMAN)
- Mutant potassium inwardly-rectifying channel subfamily J member 11 (C5IU90_HUMAN)
- Potassium channel inwardly rectifing subfamily J member 11 (D2K1F9_HUMAN)
- Potassium channel, inwardly rectifying subfamily J member 11 (IRK11_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q14654UniProtKB/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.
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.
| 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 | -- |
Phenotypes for KCNJ11 Gene
- MGI mutant phenotypes for KCNJ11:
-
inferred from 4 alleles
- mortality/aging
- behavior/neurological phenotype
- growth/size/body region phenotype
- muscle phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- endocrine/exocrine gland phenotype
- integument phenotype
- pigmentation phenotype
- adipose tissue phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for KCNJ11:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Decreased shRNA abundance (Z-score < -2)
- Resistant to vaccinia virus (VACV-A4L) infection
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance
- Decreased HIV-1 infection
Animal Model Products
-
Taconic Biosciences Mouse Models for KCNJ11
-
ViGene Biosciences lentiviral particle packaged cDNA for KCNJ11 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for KCNJ11 gene
- Search ViGene Biosciences for KCNJ11
CRISPR Products
-
OriGene CRISPR knockouts for KCNJ11
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNJ11
- GenScript: Design CRISPR guide RNA sequences for KCNJ11
miRNA for KCNJ11 Gene
- miRTarBase miRNAs that target KCNJ11
-
- hsa-mir-548au-3p (MIRT488962)
- hsa-mir-4673 (MIRT488963)
- hsa-mir-4692 (MIRT488964)
- hsa-mir-4645-5p (MIRT488965)
- hsa-mir-4514 (MIRT488966)
- hsa-mir-449c-5p (MIRT488967)
- hsa-mir-34b-5p (MIRT488968)
- hsa-mir-2682-5p (MIRT488969)
- hsa-mir-6845-3p (MIRT616610)
- hsa-mir-550b-2-5p (MIRT616611)
- hsa-mir-4642 (MIRT616612)
- hsa-mir-4279 (MIRT616613)
- hsa-mir-6749-3p (MIRT616614)
- hsa-mir-550a-5p (MIRT616615)
- hsa-mir-550a-3-5p (MIRT616616)
- hsa-mir-1271-3p (MIRT616617)
- hsa-mir-6889-3p (MIRT616618)
- hsa-mir-5588-5p (MIRT616619)
- hsa-mir-4799-3p (MIRT616620)
- hsa-mir-4720-5p (MIRT616621)
- hsa-mir-7113-3p (MIRT616622)
- hsa-mir-1914-5p (MIRT616623)
- hsa-mir-8073 (MIRT616624)
- hsa-mir-221-5p (MIRT616625)
- hsa-mir-660-3p (MIRT616626)
- hsa-mir-5193 (MIRT616627)
- hsa-mir-339-5p (MIRT616628)
- hsa-mir-6779-3p (MIRT616629)
- hsa-mir-4722-5p (MIRT646977)
- hsa-mir-1233-3p (MIRT646978)
miRNA Products
- Search ViGene Biosciences for KCNJ11
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for KCNJ11
- Browse OriGene Inhibitory RNA Products For KCNJ11
-
ViGene Biosciences ready-to-package AAV shRNAs for KCNJ11 gene
Cell Line Products
-
Horizon Cell Lines for KCNJ11
-
ViGene Biosciences adenoviral particle packaged cDNA for KCNJ11 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for KCNJ11 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for KCNJ11 gene
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| mitochondrion | 3 |
| nucleus | 3 |
| endoplasmic reticulum | 3 |
| cytosol | 3 |
| endosome | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| 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 | -- |
Pathways & Interactions for KCNJ11 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Type II diabetes mellitus | ||
| 2 | CDK-mediated phosphorylation and removal of Cdc6 | ||
| 3 | Inwardly rectifying K+ channels | ||
| 4 | Cardiac conduction |
.39
|
|
| 5 | Integration of energy metabolism | ||
Pathways by source for KCNJ11 Gene
2 BioSystems pathways for KCNJ11 Gene
16 Reactome pathways for KCNJ11 Gene
2 PharmGKB pathways for KCNJ11 Gene
2 KEGG pathways for KCNJ11 Gene
1 GeneGo (Thomson Reuters) pathway for KCNJ11 Gene
1 Qiagen pathway for KCNJ11 Gene
Interacting Proteins 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 | -- |
Drugs & Compounds for KCNJ11 Gene
(46) 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 | Kir6 (KATP) channel blocker | 114 | |
| 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 | 234 |
| 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 |
Drug Products
- ApexBio compounds for KCNJ11
Transcripts for KCNJ11 Gene
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
CRISPR Products
-
OriGene CRISPR knockouts for KCNJ11
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNJ11
- GenScript: Design CRISPR guide RNA sequences for KCNJ11
miRNA Products
- Search ViGene Biosciences for KCNJ11
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for KCNJ11
- Browse OriGene Inhibitory RNA Products For KCNJ11
-
ViGene Biosciences ready-to-package AAV shRNAs for KCNJ11 gene
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||
| SP2: | - | - | |||||||||||
| SP3: |
Expression 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:
KCNJ11SOURCE GeneReport for Unigene cluster for KCNJ11 Gene:
Hs.248141Evidence on tissue expression from TISSUES for KCNJ11 Gene
- Spleen(4.2)
- Pancreas(3.2)
- Muscle(2.8)
- Heart(2.6)
- Nervous system(2.3)
- 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
Organs:
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
Primer Products
-
OriGene qPCR primer pairs for KCNJ11
-
OriGene qPCR primer pairs and template standards for KCNJ11
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KCNJ11 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | KCNJ11 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | KCNJ11 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | KCNJ11 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Kcnj11 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Kcnj11 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | KCNJ11 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | KCNJ11 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | KCNJ11 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100492679 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | kcnj11 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Irk2 35 |
|
ManyToMany | |
| Irk3 36 |
|
|
|||
| Ir 35 |
|
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)
Paralogs for KCNJ11 Gene
Paralogs for KCNJ11 Gene
(16) SIMAP similar genes for KCNJ11 Gene using alignment to 6 proteins:
Variants for KCNJ11 Gene
| SNP ID | Clin | Chr 11 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs28936678 | Pathogenic, Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820] | 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] |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ11 Gene
Disorders for KCNJ11 Gene
(53) MalaCards diseases for KCNJ11 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| diabetes mellitus, permanent neonatal |
|
|
| hyperinsulinemic hypoglycemia, familial, 2 |
|
|
| maturity-onset diabetes of the young, type 13 |
|
|
| diabetes mellitus, transient neonatal, 3 |
|
|
| intermediate dend syndrome |
|
|
Search KCNJ11 in MalaCards
View complete list of genes associated with diseases
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}. 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
No data available for Genatlas for KCNJ11 Gene
Publications for KCNJ11 Gene
- 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
- 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
- Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. (PMID: 7502040) Inagaki N. … Bryan J. (Science 1995) 2 3 4 22 64
- Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. (PMID: 20164212) Flanagan S.E. … Ellard S. (Eur. J. Endocrinol. 2010) 3 22 46 64
- 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
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