SCN4B Gene Summary [Human]
The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]
Details
| Type | Retained Intron |
| Official Symbol | SCN4B |
| Official Name | sodium voltage-gated channel beta subunit 4 [Source:HGNC Symbol;Acc:HGNC:10592] |
| Ensembl ID | ENSG00000177098 |
| Bio databases IDs | |
| Aliases | sodium voltage-gated channel beta subunit 4 |
| Synonyms | ATFB17, Gm1471, LQT10, NAV1.5 beta4 subunit, Navbeta4, Scn-beta-4, Scn-β-4, sodium channel, type IV, beta, sodium channel, type IV, β, sodium voltage-gated channel beta subunit 4, sodium voltage-gated channel β subunit 4 |
| 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 SCN4B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- voltage-gated sodium channel
- Immunoglobulin V-Type
- immunoglobulin domain
- transmembrane domain
- Immunoglobulin like
- ion channel binding
- Immunoglobulin I-set domain
- sodium channel regulator
- protein binding
- ion channel
- Immunoglobulin V-set domain
Pathways
Biological processes and signaling networks where the SCN4B gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- obesity
- fragile X syndrome
- partial seizure
- migraines
- epilepsy
- fatigue
- long-QT syndrome 10
- fibromyalgia
- progressive supranuclear palsy
- alcoholism
regulates
role in cell
- outgrowth
- long term synaptic depression
- outgrowth in
- density
- thickening in
- thickening
- action potential
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
- cellular membrane
- intercellular junctions
- axon initial segments
- membrane rafts
- perikaryon
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SCN4B 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 depolarization involved in regulation of cardiac muscle cell action potential
- regulation of AV node cardiac muscle cell action potential
- regulation of ventricular cardiomyocyte membrane repolarization
- cardiac muscle contraction
- sodium ion transport
- regulation of sodium ion transmembrane transporter activity
- positive regulation of sodium ion transport
- regulation of heart rate by cardiac conduction
- sodium ion transmembrane transport
- establishment of localization in cell
- regulation of action potential in neuron
Cellular Component
Where in the cell the gene product is active
- voltage-gated sodium channel complex
- intercalated disc
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- sodium channel regulator activity
- protein binding
- voltage-gated sodium channel activity involved in regulation of cardiac muscle cell action potential
- ion channel binding
- voltage-gated sodium channel activity