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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 plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012]
KCNJ3 (Potassium Inwardly Rectifying Channel Subfamily J Member 3) is a Protein Coding gene. Diseases associated with KCNJ3 include Epilepsy and Myasthenic Syndrome, Congenital, 8. Among its related pathways are GABAergic synapse and Inwardly rectifying K+ channels. Gene Ontology (GO) annotations related to this gene include inward rectifier potassium channel activity and G-protein activated inward rectifier potassium channel activity. An important paralog of this gene is KCNJ5.
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.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH02J154696 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 600.7 | +0.7 | 668 | 5 | TEAD4 KDM1A SP1 EZH2 CTCF FOXA2 YY1 ZBTB17 SIN3A NFIB | ENSG00000287900 KCNJ3 | |
GH02J154486 | Promoter | 0.4 | EPDnew | 600.1 | -211.5 | -211463 | 0.1 | RELB | LOC105373693 lnc-GALNT13-4 KCNJ3 ENSG00000238004 LOC100144595 LOC105373694 lnc-RPRM-4 LOC105373692 GALNT13 | |
GH02J155145 | Enhancer | 1 | FANTOM5 dbSUPER | 5 | +448.0 | 448026 | 0.3 | SP1 BACH1 STAT3 JUND RELA RAD21 TCF12 IKZF2 RCOR1 TRIM22 | HSALNG0019728 KCNJ3 piR-32470-035 | |
GH02J155099 | Enhancer | 0.8 | Ensembl ENCODE | 4.1 | +402.2 | 402154 | 1.2 | NFE2 USF1 ESRRA MAFG NFIC DPF2 TCF7L2 NFIB USF2 FOSL2 | KCNJ3 RF00026-586 RNU6-1001P HSALNG0019728 | |
GH02J154963 | Enhancer | 0.3 | Ensembl | 9.3 | +266.1 | 266146 | 0.4 | ESR1 | KCNJ3 CBX3P6 ENSG00000230991 LOC105373696 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005242 | contributes_to inward rectifier potassium channel activity | IDA | 12297500 |
GO:0005244 | voltage-gated ion channel activity | IEA | -- |
GO:0005515 | protein binding | IPI | 12297500 |
GO:0015467 | G-protein activated inward rectifier potassium channel activity | TAS,IEA | -- |
GO:0086089 | voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization | IC | 20560207 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0008076 | voltage-gated potassium channel complex | IDA | 20560207 |
GO:0009897 | external side of plasma membrane | IEA | -- |
GO:0009986 | cell surface | IEA | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Circadian entrainment | ||
2 | Inwardly rectifying K+ channels | ||
3 | GABA receptor activation | ||
4 | Transmission across Chemical Synapses |
.62
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|
5 | GABAergic synapse |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006813 | potassium ion transport | TAS | 8804710 |
GO:0034220 | ion transmembrane transport | IEA | -- |
GO:0034765 | regulation of ion transmembrane transport | IBA | 21873635 |
GO:0051602 | response to electrical stimulus | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Ethanol | Approved | Pharma | Target | 3266 | ||
Atomoxetine | Approved | Pharma | Target, inhibitor | 0 | ||
Dronedarone | Approved | Pharma | Target, inhibitor | 34 | ||
Halothane | Approved, Vet_approved | Pharma | Activator, Inhibitor, Target, inhibitor | 3 | ||
Magnesium | Approved, Experimental, Investigational | Pharma | 0 |
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 | KCNJ3 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KCNJ3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KCNJ3 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KCNJ3 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kcnj3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Kcnj3 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KCNJ3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KCNJ3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KCNJ3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kcnj3 30 |
|
||
Str.12058 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | KCNJ3 (2 of 2) 31 |
|
OneToMany | |
KCNJ3 (1 of 2) 31 |
|
OneToMany | |||
si:ch73-83c10.1 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Ir 32 |
|
|
|
Irk2 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | irk-1 32 |
|
|
|
irk-2 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710586 | Benign: not provided | 154,855,301(+) | T/C | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
rs16838016 | - | p.Lys40Arg |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv7127n54 | CNV | loss | 21841781 |
dgv747e214 | CNV | loss | 21293372 |
esv3593001 | CNV | gain | 21293372 |
nsv1003775 | CNV | loss | 25217958 |
nsv2984 | CNV | insertion | 18451855 |
nsv583426 | CNV | loss | 21841781 |
nsv7331 | OTHER | inversion | 18451855 |
nsv834429 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
epilepsy |
|
|
myasthenic syndrome, congenital, 8 |
|
|
long qt syndrome |
|
|
night blindness, congenital stationary, type 1h |
|
|
charcot-marie-tooth disease, dominant intermediate f |
|
|