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Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member includes two isoforms with different sizes, which are encoded by alternatively spliced transcript variants of this gene. [provided by RefSeq, Jul 2008]
KCND3 (Potassium Voltage-Gated Channel Subfamily D Member 3) is a Protein Coding gene. Diseases associated with KCND3 include Spinocerebellar Ataxia 19 and Brugada Syndrome 9. Among its related pathways are Spinocerebellar ataxia and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated potassium channel activity. An important paralog of this gene is KCND2.
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 | IBA | 21873635 |
GO:0005250 | contributes_to A-type (transient outward) potassium channel activity | TAS,IDA | 21349352 |
GO:0005267 | potassium channel activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0008076 | voltage-gated potassium channel complex | IDA | 21493962 |
GO:0014069 | postsynaptic density | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cardiac conduction | ||
2 | Potassium Channels | ||
3 | Spinocerebellar ataxia | ||
4 | Antiarrhythmic Pathway, Pharmacodynamics | ||
5 | Dopamine-DARPP32 Feedback onto cAMP Pathway |
Dopamine-DARPP32 Feedback onto cAMP Pathway
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|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006813 | potassium ion transport | TAS | 8734615 |
GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
GO:0051260 | protein homooligomerization | IEA | -- |
GO:0055085 | transmembrane transport | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Disopyramide | Approved | Pharma | Target, inhibitor | 4 | ||
4-Aminopyridine | Approved | Pharma | Pore Blocker, Inhibitor, Antagonist, Target, antagonist | potassium channel-blocking agent | 60 | |
Potassium | Approved, Experimental | Pharma | 0 | |||
Dronedarone | Approved | Pharma | Target, inhibitor | 34 | ||
Enflurane | Approved, Investigational, Vet_approved | Pharma | Target, inhibitor, activator | 2 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Kaliotoxin |
|
145199-73-1 |
|
|
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: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KCND3 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KCND3 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KCND3 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KCND3 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KCND3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kcnd3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Kcnd3 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KCND3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kcnd3 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | kcnd3-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | kcnd3 30 31 |
|
OneToOne | |
wufi06g01 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Shal 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | Y73B6BL.19 32 |
|
|
|
shl-1 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9633 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
626316 | Pathogenic: Spinocerebellar ataxia type 19/22 | 111,981,777(-) | C/T | MISSENSE_VARIANT | |
626317 | Pathogenic: Spinocerebellar ataxia type 19/22 | 111,981,714(-) | A/T | MISSENSE_VARIANT | |
626318 | Pathogenic: Spinocerebellar ataxia type 19/22 | 111,787,090(-) | G/A | MISSENSE_VARIANT | |
626319 | Pathogenic: Spinocerebellar ataxia type 19/22 | 111,787,083(-) | G/A | MISSENSE_VARIANT | |
647173 | Uncertain Significance: Spinocerebellar ataxia type 19/22 | 111,776,166(-) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1002713 | CNV | deletion | 20482838 |
esv2675358 | CNV | deletion | 23128226 |
esv3587199 | CNV | loss | 21293372 |
esv3894034 | CNV | loss | 25118596 |
nsv2432 | CNV | insertion | 18451855 |
nsv463261 | CNV | loss | 19166990 |
nsv463272 | CNV | loss | 19166990 |
nsv528707 | CNV | loss | 19592680 |
nsv547555 | CNV | loss | 21841781 |
nsv547556 | CNV | loss | 21841781 |
nsv824143 | CNV | gain | 20364138 |
nsv831048 | CNV | gain | 17160897 |
nsv951394 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinocerebellar ataxia 19 |
|
|
brugada syndrome 9 |
|
|
spinocerebellar ataxia type 19/22 |
|
|
brugada syndrome |
|
|
right bundle branch block |
|
|