KCNE3 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | KCNE3 |
| Official Name | potassium voltage-gated channel subfamily E regulatory subunit 3 [Source:HGNC Symbol;Acc:HGNC:6243] |
| Ensembl ID | ENSG00000175538 |
| Bio databases IDs | |
| Aliases | potassium voltage-gated channel subfamily E regulatory subunit 3 |
| Synonyms | 2210017H05Rik, BRGDA6, HOKPP, HYPP, MiRP2, potassium voltage-gated channel, Isk-related subfamily, gene 3, potassium voltage-gated channel subfamily E regulatory subunit 3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KCNE3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- potassium channel
- potassium channel regulator
- ion channel binding
- protein binding
- ion channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hyperplasia
- ventricular tachycardia
- Brugada syndrome
- achlorhydria
- astigmatism
- hypochlorhydria
- brugada syndrome type 6
- atrial fibrillation
- hyperkalemic periodic paralysis
role in cell
- cellular infiltration by
- homeostasis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- basolateral cell compartment
- cellular membrane
- vesicles
- basolateral membrane
- cytoplasmic vesicles
- membrane rafts
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KCNE3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sodium ion transport
- membrane repolarization involved in regulation of action potential
- regulation of ventricular cardiac muscle cell action potential
- regulation of heart rate by cardiac conduction
- regulation of ventricular cardiomyocyte membrane repolarization
- cellular chloride ion homeostasis
Cellular Component
Where in the cell the gene product is active
- dendrite
- cytoplasm
- voltage-gated potassium channel complex
- membrane raft
- vesicle
- neuronal cell body membrane
- perikaryon
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- delayed rectifier potassium channel activity
- ion channel binding
- potassium channel regulator activity