SCN1B
Sodium Voltage-Gated Channel Beta Subunit 1
Gene Information Card
| Symbol | SCN1B |
|---|---|
| Full Name | sodium voltage-gated channel beta subunit 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.11 |
| NCBI Gene ID | 6324 ncbi.nlm.nih.gov/gene/6324 |
| Ensembl ID | ENSG00000105711 |
| UniProt ID | Q07699 |
| OMIM ID | 600235 |
| HGNC ID | 10586 |
| Aliases | GEFSP1, BRGDA5, EIEE52, ATFB13, SCN1B1, SCN1B2 |
Description
The SCN1B gene encodes the beta-1 subunit of the voltage-gated sodium channel. This auxiliary subunit modulates channel gating, kinetics, and cell surface expression. Mutations in SCN1B are associated with epilepsy syndromes (including genetic epilepsy with febrile seizures plus, GEFS+), Dravet syndrome, cardiac arrhythmias such as Brugada syndrome, and atrial fibrillation. The gene is expressed in brain, heart, and other excitable tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Genetic epilepsy with febrile seizures plus (GEFS+) | Missense mutations impair sodium channel modulation, leading to neuronal hyperexcitability | OMIM #604233; ClinVar |
| Dravet syndrome (severe myoclonic epilepsy of infancy) | Loss-of-function mutations reduce sodium channel expression and alter gating | OMIM #607208; ClinVar |
| Brugada syndrome 5 | Dominant-negative or loss-of-function effects on cardiac sodium current (I_Na) | OMIM #612838; ClinVar |
| Atrial fibrillation, familial, 13 | Altered channel kinetics predispose to atrial arrhythmia | OMIM #615377; ClinVar |
| Epileptic encephalopathy, early infantile, 52 | De novo missense mutations cause severe neurodevelopmental disorder | OMIM #617350; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Heart | 6.5 | Medium |
| Skeletal muscle | 4.1 | Low |
| Kidney | 2.3 | Low |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.4 | High expression |
| HEK 293 (embryonic kidney) | 3.8 | Moderate expression |
| H9c2 (cardiomyocyte) | 7.1 | Medium expression |
| U-87 MG (glioblastoma) | 9.6 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.121C>T (p.Arg41Cys) | Missense | Rare (0.01% in general population) | Loss of function; associated with GEFS+ and Dravet syndrome |
| c.363C>G (p.Tyr121*) | Nonsense | Very rare | Loss of function; truncation leads to nonsense-mediated decay |
| c.448G>A (p.Gly150Arg) | Missense | Rare | Dominant-negative effect; linked to Brugada syndrome |
| c.530G>A (p.Arg177His) | Missense | Rare | Gain of function?; reported in atrial fibrillation |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of function; associated with early infantile epileptic encephalopathy |
Mutation functional classification
Loss of Function (LOF)
Most SCN1B mutations (e.g., p.Arg41Cys, p.Tyr121*) reduce sodium channel surface expression or impair modulation, leading to neuronal or cardiac hypoexcitability.
Gain of Function (GOF)
Rare; some missense variants (e.g., p.Arg177His) may enhance channel activity, contributing to atrial fibrillation.
Dominant Negative (DN)
Mutations such as p.Gly150Arg produce a subunit that interferes with wild-type beta-1 function, causing Brugada syndrome.
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 SCN1B protein (beta-1 subunit) is a 218-amino-acid type I transmembrane glycoprotein with a single immunoglobulin-like domain. It associates non-covalently with the pore-forming alpha subunit (e.g., Nav1.1, Nav1.5) to modulate channel gating, voltage dependence, and kinetics. Beta-1 also functions as a cell adhesion molecule, influencing neurite outgrowth and neuronal migration. Mutations disrupt these roles, leading to epilepsy and cardiac arrhythmias.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCN1B Knockout HEK293 Cell Line | EDJ-KQ3197 | Human | 6324 | Details Get a Quote |
| SCN1B Knockout A-549 Cell Line | EDJ-KQ24651 | Human | 6324 | Details Get a Quote |
| SCN1B Knockout HCT 116 Cell Line | EDJ-KQ24652 | Human | 6324 | Details Get a Quote |
| SCN1B Knockout HeLa Cell Line | EDJ-KQ24653 | Human | 6324 | Details Get a Quote |
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