SCN2B
Sodium Voltage-Gated Channel Beta Subunit 2
Gene Information Card
| Symbol | SCN2B |
|---|---|
| Full Name | Sodium Voltage-Gated Channel Beta Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 6327 ncbi.nlm.nih.gov/gene/6327 |
| Ensembl ID | ENSG00000149571 |
| UniProt ID | O60939 |
| OMIM ID | 601327 |
| HGNC ID | 10589 |
| Aliases | Na(v)beta2, SCN2B1, SCN2B2 |
Description
SCN2B encodes the beta-2 subunit of voltage-gated sodium channels. This auxiliary subunit modulates channel gating, kinetics, and cell surface expression. It is primarily expressed in brain, heart, and dorsal root ganglia. Mutations in SCN2B are associated with epilepsy, cardiac arrhythmias, and neuropathic pain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, early infantile epileptic encephalopathy | Loss-of-function mutations reduce sodium channel expression and alter neuronal excitability | ClinVar, OMIM |
| Brugada syndrome | Gain-of-function mutations increase late sodium current, predisposing to arrhythmia | ClinVar, OMIM |
| Neuropathic pain | Altered sodium channel trafficking in sensory neurons | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Spinal cord | 10.1 | Medium |
| Skeletal muscle | 4.2 | Low |
| Dorsal root ganglia | 15.0 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 14.2 | Neuronal cell line |
| HEK293 | 2.1 | Low endogenous expression |
| iPSC-derived cardiomyocytes | 9.8 | Cardiac model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.448C>T (p.Arg150*) | Nonsense | <0.01% | Loss of function; associated with epilepsy |
| c.539G>A (p.Arg180His) | Missense | <0.01% | Gain of function; associated with Brugada syndrome |
| c.121G>A (p.Glu41Lys) | Missense | <0.01% | Altered trafficking; neuropathic pain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or reduced surface expression; linked to epilepsy.
Gain of Function (GOF)
Missense mutations (e.g., p.Arg180His) that increase late sodium current; linked to Brugada syndrome.
Dominant Negative (DN)
Not well documented for SCN2B.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Voltage-gated sodium channel pathway (Reactome: R-HSA-5576892)
• Cardiac conduction (Reactome: R-HSA-5576891)
• Neuronal system (Reactome: R-HSA-112316)
Protein Summary
The beta-2 subunit encoded by SCN2B is a transmembrane protein that associates with the pore-forming alpha subunit of voltage-gated sodium channels. It modulates channel gating, voltage dependence, and cell surface expression. The protein contains an extracellular immunoglobulin-like domain and a short intracellular C-terminus. It is critical for normal action potential propagation in neurons and cardiac myocytes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCN2B Knockout HEK293 Cell Line | EDJ-KQ5716 | Human | 6327 | Details Get a Quote |
| SCN2B Knockout HeLa Cell Line | EDJ-KQ54399 | Human | 6327 | Details Get a Quote |
| SCN2B Knockout A-549 Cell Line | EDJ-KQ62890 | Human | 6327 | Details Get a Quote |
| SCN2B Knockout HCT 116 Cell Line | EDJ-KQ71356 | Human | 6327 | Details Get a Quote |
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