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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 embryo and in adult uterus. [provided by RefSeq, Jul 2008]
KCNE4 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 4) is a Protein Coding gene. Diseases associated with KCNE4 include Cataract 31, Multiple Types and Deafness, Autosomal Recessive 98. Among its related pathways are Cardiac conduction and Phase 0 - rapid depolarisation. Gene Ontology (GO) annotations related to this gene include voltage-gated potassium channel activity.
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.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH02J223051 | Enhancer | 0.4 | Ensembl dbSUPER | 600.7 | -1.5 | -1513 | 0.6 | SCRT2 | KCNE4 HSALNG0022564 ACSL3 | |
GH02J223050 | Promoter/Enhancer | 1.6 | FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER | 8.7 | +2.7 | 2688 | 7.6 | RFX1 JUND PKNOX1 NR2C1 EP300 SCRT2 HMBOX1 CEBPB BMI1 ZNF316 | ACSL3-AS1 ACSL3 KCNE4 MRPL44 piR-56341-126 SCG2 | |
GH02J223099 | Enhancer | 1 | Ensembl ENCODE dbSUPER | 11.1 | +49.1 | 49104 | 3 | CTCF KDM1A FOXA1 REST IRF2 MNT CTBP1 FOXK2 ZNF444 SMC3 | KCNE4 LOC105373905 piR-56341-126 SCG2 | |
GH02J223026 | Enhancer | 0.8 | Ensembl ENCODE | 12.1 | -24.7 | -24655 | 1.5 | CREB1 FOXA1 PKNOX1 EP300 SP1 NFE2 ZNF316 FOXA2 MAFF MAFK | HSALNG0022564 KCNE4 ACSL3 | |
GH02J223723 | Enhancer | 1.1 | ENCODE CraniofacialAtlas | 5.1 | +674.0 | 673982 | 4 | CREB1 GATAD2A CTCF TEAD4 ZNF629 ZNF512 IKZF1 JUND FOXA1 PRDM1 | piR-57845-007 KCNE4 piR-43107-168 AP1S3 SCG2 |
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 | 19687231 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008076 | colocalizes_with voltage-gated potassium channel complex | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0016324 | apical plasma membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cardiac conduction | ||
2 | Antiarrhythmic Pathway, Pharmacodynamics | ||
3 | Dopamine-DARPP32 Feedback onto cAMP Pathway |
Dopamine-DARPP32 Feedback onto cAMP Pathway
-
|
|
4 | 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:0060307 | regulation of ventricular cardiac muscle cell membrane repolarization | IBA | 21873635 |
GO:0071805 | potassium ion transmembrane transport | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Enflurane | Approved, Investigational, Vet_approved | Pharma | Target, inhibitor, activator | 2 | ||
Promethazine | Approved, Investigational | Pharma | Target, inducer | 470 | ||
Chromanol 293B | Pharma | Pore Blocker, Antagonist | IKs blocker. Also blocks ICFTR | 0 | ||
Flupirtine maleate | Pharma | KV7 channel activator | 0 | |||
MaxiPost | Pharma | Potassium channel modulator; exerts subtype-specific effects | 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 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KCNE4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KCNE4 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kcne4 30 |
|
||
Dog (Canis familiaris) |
Mammalia | KCNE4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Kcne4 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KCNE4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KCNE4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KCNE4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KCNE4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kcne4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | kcne4 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs12621643 | - | p.Asp196Glu | |||
rs13409084 | - | p.Gly98Ser |
Disorder | Aliases | PubMed IDs |
---|---|---|
cataract 31, multiple types |
|
|
deafness, autosomal recessive 98 |
|
|
jervell and lange-nielsen syndrome 1 |
|
|
short qt syndrome |
|
|
hypokalemic periodic paralysis, type 1 |
|
|