KCNE2 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 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]
Details
| Type | Protein Coding |
| Official Symbol | KCNE2 |
| Official Name | potassium voltage-gated channel subfamily E regulatory subunit 2 [Source:HGNC Symbol;Acc:HGNC:6242] |
| Ensembl ID | ENSG00000159197 |
| Bio databases IDs | |
| Aliases | potassium voltage-gated channel subfamily E regulatory subunit 2 |
| Synonyms | 2200002I16Rik, ATFB4, LQT5, LQT6, MINK-RELATED PEPTIDE 1, MIRP1, potassium voltage-gated channel, Isk-related subfamily, gene 2, potassium voltage-gated channel subfamily E regulatory subunit 2 |
| 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 KCNE2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- delayed rectifier potassium channel
- voltage-gated potassium channel
- inward rectifier potassium channel
- potassium channel regulator
- ion channel binding
- intracellular domain
- protein binding
- identical protein binding
- ion channel
- cation channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- cardiac hypertrophy
- cardiovascular disorder
- coronary disease
- coronary artery disease
- diabetes mellitus
- gastric cancer
- achlorhydria
- hyperplasia
- non-insulin-dependent diabetes mellitus
role in cell
- hyperpolarization
- morphology
- binding in
- repolarization
- abnormal morphology
- response by
- hyperpolarization 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
- cell surface
- cellular membrane
- apical membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KCNE2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cardiac muscle cell action potential involved in contraction
- membrane repolarization involved in regulation of action potential
- potassium ion transmembrane transport
- regulation of ventricular cardiac muscle cell action potential
- regulation of membrane repolarization
- regulation of ventricular cardiomyocyte membrane repolarization
- regulation of heart rate by cardiac conduction
- cellular response to xenobiotic stimulus
- tongue development
- membrane repolarization
Cellular Component
Where in the cell the gene product is active
- voltage-gated potassium channel complex
- apical plasma membrane
- plasma membrane
- lysosome
- cell surface
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- delayed rectifier potassium channel activity
- inward rectifier potassium channel activity
- potassium channel regulator activity
- ion channel binding