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The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]
KCNC4 (Potassium Voltage-Gated Channel Subfamily C Member 4) is a Protein Coding gene. Diseases associated with KCNC4 include Congenital Disorder Of Glycosylation, Type Iic and Spinocerebellar Ataxia 13. Among its related pathways are Potassium Channels and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include ion channel activity and potassium channel activity. An important paralog of this gene is KCNC3.
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005216 | ion channel activity | IEA | -- |
GO:0005244 | voltage-gated ion channel activity | IEA | -- |
GO:0005249 | voltage-gated potassium channel activity | IEA,IBA | 21873635 |
GO:0005251 | delayed rectifier potassium channel activity | IBA | 21873635 |
GO:0005267 | potassium channel activity | TAS | 1740329 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0008076 | voltage-gated potassium channel complex | IEA,IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IBA | 21873635 |
GO:0030424 | axon | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Potassium Channels | ||
2 | Dopamine-DARPP32 Feedback onto cAMP Pathway |
Dopamine-DARPP32 Feedback onto cAMP Pathway
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|
3 | Transmission across Chemical Synapses |
.62
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006813 | potassium ion transport | IEA,TAS | 1920536 |
GO:0007268 | chemical synaptic transmission | TAS | -- |
GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
GO:0046928 | regulation of neurotransmitter secretion | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Potassium | Approved, Experimental | Pharma | 0 | |||
Enflurane | Approved, Investigational, Vet_approved | Pharma | Target, inhibitor, activator | 2 | ||
Promethazine | Approved, Investigational | Pharma | Target, inducer | 470 | ||
phosphoserine | Experimental | Pharma | Target | 0 | ||
tetraethylammonium | Experimental, Investigational | Pharma | Inhibitor, Pore Blocker, Antagonist, Inhibition | 1 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
sea anemone toxin BDS-I |
|
Inhibitor |
|
|
||
Kaliotoxin |
|
145199-73-1 |
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|
Compound | Action | Cas Number |
---|---|---|
Chromanol 293B | IKs blocker. Also blocks ICFTR | 163163-23-3 |
Flupirtine maleate | KV7 channel activator | 75507-68-5 |
Kaliotoxin | KV and KCa blocker | 145199-73-1 |
MaxiPost | Potassium channel modulator; exerts subtype-specific effects | 187523-35-9 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||
SP2: | - | - | - | ||||||||||||||||
SP3: | |||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KCNC4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KCNC4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KCNC4 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KCNC4 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kcnc4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Kcnc4 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KCNC4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KCNC4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KCNC4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kcnc4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | kcnc4 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Shaw 32 |
|
|
|
CG4450 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | shw-3 32 |
|
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
736266 | Likely Benign: not provided | 110,223,071(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
rs12411176 | - | p.Cys520Tyr | |||
rs35167146 | - | p.Asp318Tyr | |||
rs59123361 | - | p.Arg516Gln |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv991777 | CNV | deletion | 20482838 |
nsv1075780 | CNV | duplication | 25765185 |
Disorder | Aliases | PubMed IDs |
---|---|---|
congenital disorder of glycosylation, type iic |
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spinocerebellar ataxia 13 |
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episodic ataxia, type 1 |
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