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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. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq, Jul 2008]
KCNE3 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 3) is a Protein Coding gene. Diseases associated with KCNE3 include Brugada Syndrome 6 and Brugada Syndrome. Among its related pathways are Collagen chain trimerization and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include voltage-gated potassium channel activity and potassium channel regulator activity. An important paralog of this gene is KCNE5.
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:0005244 | voltage-gated ion channel activity | IEA | -- |
GO:0005249 | voltage-gated potassium channel activity | IEA | -- |
GO:0005251 | contributes_to delayed rectifier potassium channel activity | IBA | 21873635 |
GO:0005267 | potassium channel activity | IEA | -- |
GO:0005515 | protein binding | IPI | 20533308 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 12954870 |
GO:0005886 | colocalizes_with plasma membrane | IPI | 10646604 |
GO:0008076 | colocalizes_with voltage-gated potassium channel complex | IDA | 12954870 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cardiac conduction | ||
2 | Collagen chain trimerization | ||
3 | Antiarrhythmic Pathway, Pharmacodynamics | ||
4 | Dopamine-DARPP32 Feedback onto cAMP Pathway |
Dopamine-DARPP32 Feedback onto cAMP Pathway
-
|
|
5 | Phase 0 - rapid depolarisation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006813 | potassium ion transport | IEA | -- |
GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
GO:0043266 | regulation of potassium ion transport | IEA | -- |
GO:0060307 | regulation of ventricular cardiac muscle cell membrane repolarization | IBA | 21873635 |
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 | ||
Chloride ion | Experimental | Pharma | 0 | |||
cyclic amp | Experimental | Pharma | 0 |
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 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||
SP2: | - | - | |||||||||||
SP3: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KCNE3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KCNE3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KCNE3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Kcne3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kcne3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | KCNE3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KCNE3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KCNE3 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kcne3 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | KCNE3 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
658553 | Uncertain Significance: Brugada syndrome 6 | 74,457,515(-) | C/T | MISSENSE_VARIANT | |
681496 | Likely Benign: not provided | 74,457,581(-) | TG/T | FIVE_PRIME_UTR_VARIANT | |
683555 | Benign: not provided | 74,457,937(-) | T/C | INTRON_VARIANT | |
698783 | Benign: Brugada syndrome 6 | 74,457,336(-) | G/A | SYNONYMOUS_VARIANT | |
843374 | Uncertain Significance: Brugada syndrome 6 | 74,457,285(-) | A/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv209e214 | CNV | gain | 21293372 |
esv2759837 | CNV | gain | 17122850 |
esv34979 | CNV | gain | 17911159 |
esv3626840 | CNV | gain | 21293372 |
nsv1041154 | CNV | loss | 25217958 |
nsv393 | CNV | deletion | 18451855 |
nsv555443 | CNV | loss | 21841781 |
nsv825994 | CNV | gain | 20364138 |
nsv832209 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
brugada syndrome 6 |
|
|
brugada syndrome |
|
|
periodic paralysis |
|
|
hypokalemic periodic paralysis, type 1 |
|
|
encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities |
|
|