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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. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012]
KCNJ8 (Potassium Inwardly Rectifying Channel Subfamily J Member 8) is a Protein Coding gene. Diseases associated with KCNJ8 include Cantu Syndrome and Sudden Infant Death Syndrome. Among its related pathways are cGMP-PKG signaling pathway and Potassium Channels. Gene Ontology (GO) annotations related to this gene include inward rectifier potassium channel activity and ATP-activated inward rectifier potassium channel activity. An important paralog of this gene is KCNJ11.
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:0005524 | ATP binding | ISS | -- |
GO:0015272 | ATP-activated inward rectifier potassium channel activity | IEA,NAS | 28842488 |
GO:0017098 | sulfonylurea receptor binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0008076 | voltage-gated potassium channel complex | TAS | 7890693 |
GO:0008282 | inward rectifying potassium channel | IEA | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Inwardly rectifying K+ channels | ||
2 | cGMP-PKG signaling pathway | ||
3 | Antiarrhythmic Pathway, Pharmacodynamics | ||
4 | Dopamine-DARPP32 Feedback onto cAMP Pathway |
Dopamine-DARPP32 Feedback onto cAMP Pathway
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5 | Transmission across Chemical Synapses |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001822 | kidney development | IEA | -- |
GO:0006811 | ion transport | IEA | -- |
GO:0006813 | potassium ion transport | IEA,TAS | 7890693 |
GO:0007507 | heart development | IEA | -- |
GO:0032496 | response to lipopolysaccharide | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Glyburide | Approved | Pharma | Channel blocker, Inhibitor, Inhibition, Target, inhibitor, blocker | Kir6 (KATP) channel blocker | 127 | |
Thiamylal | Approved, Vet_approved | Pharma | Target, inhibitor, antagonist | 0 | ||
Minoxidil | Approved, Investigational | Pharma | Activator | Kir6 channel (KATP) opener | 46 | |
Gliquidone | Approved, Investigational | Pharma | Target, inhibitor | 5 | ||
Levosimendan | Approved, Investigational | Pharma | Target, inducer | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KCNJ8 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KCNJ8 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KCNJ8 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KCNJ8 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Kcnj8 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kcnj8 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | KCNJ8 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KCNJ8 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KCNJ8 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | kcnj8 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001284 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Irk2 31 32 |
|
ManyToMany | |
Irk3 32 |
|
|
|||
Ir 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
652685 | Uncertain Significance: Brugada syndrome | 21,765,928(-) | T/C | MISSENSE_VARIANT | |
660991 | Uncertain Significance: Brugada syndrome | 21,765,780(-) | C/T | MISSENSE_VARIANT | |
664966 | Uncertain Significance: Brugada syndrome | 21,765,832(-) | T/C | MISSENSE_VARIANT | |
691727 | Likely Benign: Hypertrophic cardiomyopathy | 21,765,804(-) | G/C | MISSENSE_VARIANT | |
703201 | Likely Benign: not provided | 21,766,398(-) | G/A | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
cantu syndrome |
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sudden infant death syndrome |
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brugada syndrome |
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brugada syndrome 1 |
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cantú syndrome and related disorders |
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