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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]
KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11) is a Protein Coding gene. Diseases associated with KCNJ11 include Hyperinsulinemic Hypoglycemia, Familial, 2 and Maturity-Onset Diabetes Of The Young, Type 13. Among its related pathways are Type II diabetes mellitus and Antiarrhythmic Pathway, Pharmacodynamics. 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.
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005242 | inward rectifier potassium channel activity | IEA,IBA | 21873635 |
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Type II diabetes mellitus | ||
2 | CDK-mediated phosphorylation and removal of Cdc6 | ||
3 | Inwardly rectifying K+ channels | ||
4 | Cardiac conduction |
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5 | Integration of energy metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002931 | response to ischemia | IEA | -- |
GO:0006006 | glucose metabolic process | IMP | 8923010 |
GO:0006811 | ion transport | IEA | -- |
GO:0006813 | potassium ion transport | IEA | -- |
GO:0032355 | response to estradiol | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Glyburide | Approved | Pharma | Inhibitor, Target, Target, blocker | Kir6 (KATP) channel blocker | 126 | |
Glimepiride | Approved | Pharma | Target, inhibitor, blocker | Sulfonylurea compound | 252 | |
Minoxidil | Approved, Investigational | Pharma | Activator | Kir6 channel (KATP) opener | 50 | |
Nicorandil | Approved, Investigational | Pharma | Activator | Potassium channel activator, Kir6 (KATP) channel opener and NO donor | 27 | |
Diazoxide | Approved | Pharma | Activator, Target, inducer | 29 |
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 |
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 | |
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 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||
SP2: | - | - | |||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KCNJ11 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KCNJ11 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KCNJ11 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KCNJ11 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Kcnj11 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kcnj11 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | KCNJ11 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KCNJ11 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KCNJ11 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100492679 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | kcnj11 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Irk2 31 |
|
ManyToMany | |
Irk3 32 |
|
|
|||
Ir 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
847800 | Conflicting Interpretations: Monogenic diabetes; not provided | 17,387,190(-) |
C/G NM_000525.4(KCNJ11):c.902G>C (p.Arg301Pro) |
MISSENSE | |
877473 | Uncertain Significance: Islet cell hyperplasia; Transient neonatal diabetes mellitus 3; Maturity-onset diabetes of the young, type 13 | 17,385,504(-) |
C/T NM_000525.4(KCNJ11):c.*1415G>A |
THREE_PRIME_UTR | |
877474 | Uncertain Significance: Islet cell hyperplasia; Transient neonatal diabetes mellitus 3; Maturity-onset diabetes of the young, type 13 | 17,385,699(-) |
C/T NM_000525.4(KCNJ11):c.*1220G>A |
THREE_PRIME_UTR | |
877518 | Conflicting Interpretations: Islet cell hyperplasia; Transient neonatal diabetes mellitus 3; Maturity-onset diabetes of the young, type 13 | 17,386,071(-) |
T/C NM_000525.4(KCNJ11):c.*848A>G |
THREE_PRIME_UTR | |
877519 | Uncertain Significance: Islet cell hyperplasia; Transient neonatal diabetes mellitus 3; Maturity-onset diabetes of the young, type 13 | 17,386,077(-) |
G/C NM_000525.4(KCNJ11):c.*842C>G |
THREE_PRIME_UTR |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperinsulinemic hypoglycemia, familial, 2 |
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maturity-onset diabetes of the young, type 13 |
|
|
diabetes mellitus, transient neonatal, 3 |
|
|
diabetes mellitus, permanent neonatal, 2 |
|
|
permanent neonatal diabetes mellitus |
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