SCN2B Gene Summary [Human]
The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden infant death syndrome. [provided by RefSeq, Jul 2015]
Details
| Type | Protein Coding |
| Official Symbol | SCN2B |
| Official Name | sodium voltage-gated channel beta subunit 2 [Source:HGNC Symbol;Acc:HGNC:10589] |
| Ensembl ID | ENSG00000149575 |
| Bio databases IDs | |
| Aliases | sodium voltage-gated channel beta subunit 2 |
| Synonyms | 2810451E09RIK, ATFB14, Gm183, NAV1.5 beta2 subunit, SCNB2, sodium channel, voltage-gated, type II, beta, sodium channel, voltage-gated, type II, β, sodium voltage-gated channel beta subunit 2, sodium voltage-gated channel β subunit 2, VGSC beta2 subunit |
| 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 SCN2B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- Immunoglobulin V-Type
- immunoglobulin domain
- sodium channel regulator
- protein binding
- immunoglobulin loop
- ion channel
- voltage-gated sodium channel
- voltage-gated potassium channel
- cytoplasmic domain
- transmembrane domain
- Immunoglobulin like
- intracellular domain
- Immunoglobulin V-set domain
Pathways
Biological processes and signaling networks where the SCN2B 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
- migraines
- obesity
- schizophrenia
- schizoaffective disorder
- fragile X syndrome
- seizures
- epilepsy
- amyotrophic lateral sclerosis
- nicotine dependence
- Brugada syndrome type 1
role in cell
- chemorepulsion
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
- axon component
- cellular membrane
- nodes of Ranvier
- axon initial segments
- transverse tubules
- membrane rafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SCN2B 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 atrial cardiomyocyte membrane depolarization
- nervous system development
- synaptic transmission
- cardiac muscle contraction
- response to heat
- response to pyrethroid
- regulation of sodium ion transmembrane transporter activity
- gene expression
- regulation of heart rate by cardiac conduction
- sodium ion transmembrane transport
Cellular Component
Where in the cell the gene product is active
- T-tubule
- voltage-gated sodium channel complex
- synapse
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- sodium channel regulator activity
- voltage-gated sodium channel activity involved in regulation of cardiac muscle cell action potential