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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 small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq, Jul 2008]
KCNE2 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2) is a Protein Coding gene. Diseases associated with KCNE2 include Long Qt Syndrome 6 and Atrial Fibrillation, Familial, 4. Among its related pathways are Cardiac conduction and Phase 0 - rapid depolarisation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and voltage-gated potassium channel activity. An important paralog of this gene is KCNE1.
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:0005242 | contributes_to inward rectifier potassium channel activity | IEA,IDA | 10219239 |
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 | IEA,IDA | 10219239 |
GO:0005267 | potassium channel activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005764 | lysosome | HDA | 16780588 |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0008076 | colocalizes_with voltage-gated potassium channel complex | IEA,IDA | 19219384 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cardiac conduction | ||
2 | Antiarrhythmic Pathway, Pharmacodynamics | ||
3 | Salivary secretion | ||
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:0007568 | aging | IEA | -- |
GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
GO:0035690 | cellular response to drug | IEA,IDA | 10219239 |
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 | ||
Chromanol 293B | Pharma | Pore Blocker, Antagonist | IKs blocker. Also blocks ICFTR | 0 | ||
Flupirtine maleate | Pharma | KV7 channel activator | 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 | KCNE2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KCNE2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KCNE2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KCNE2 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Kcne2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kcne2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | KCNE2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KCNE2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KCNE2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100490092 30 |
|
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
659161 | Uncertain Significance: Long QT syndrome 6 | 34,370,480(+) | T/C | MISSENSE_VARIANT | |
671162 | Likely Benign: not provided | 34,370,508(+) | G/A | SYNONYMOUS_VARIANT | |
683556 | Benign: not provided | 34,363,867(+) | G/A | ||
692254 | Uncertain Significance: Long QT syndrome 6 | 34,370,772(+) | C/G | MISSENSE_VARIANT | |
697688 | Likely Benign: Long QT syndrome 6 | 34,370,787(+) | A/G | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4426n100 | CNV | gain | 25217958 |
dgv7824n54 | CNV | gain | 21841781 |
esv2762109 | CNV | gain | 21179565 |
esv3575386 | CNV | gain | 25503493 |
esv3646921 | CNV | loss | 21293372 |
nsv1055429 | CNV | gain | 25217958 |
nsv520827 | CNV | loss | 19592680 |
nsv834088 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
long qt syndrome 6 |
|
|
atrial fibrillation, familial, 4 |
|
|
familial long qt syndrome |
|
|
familial atrial fibrillation |
|
|
long qt syndrome 1 |
|