SCN7A
Sodium Voltage-Gated Channel Alpha Subunit 7
Gene Information Card
| Symbol | SCN7A |
|---|---|
| Full Name | sodium voltage-gated channel alpha subunit 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q24.3 |
| NCBI Gene ID | 6332 ncbi.nlm.nih.gov/gene/6332 |
| Ensembl ID | ENSG00000136546 |
| UniProt ID | Q01118 |
| OMIM ID | 182391 |
| HGNC ID | 10596 |
| Aliases | NaV2.1, SCN6A, SCN7A, sodium channel, voltage-gated, type VII, alpha subunit |
Description
SCN7A (sodium voltage-gated channel alpha subunit 7) encodes the alpha subunit of the voltage-gated sodium channel NaV2.1. This channel is primarily expressed in the heart, brain, and smooth muscle, and is involved in the generation and propagation of action potentials. Mutations in SCN7A have been associated with cardiac arrhythmias and epilepsy. The gene is located on chromosome 2q24.3 and is part of the sodium channel gene family.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, familial, with variable foci | Missense mutations alter channel gating, leading to neuronal hyperexcitability | ClinVar, OMIM |
| Cardiac arrhythmia, long QT syndrome | Gain-of-function mutations prolong repolarization | ClinVar, OMIM |
| Brugada syndrome | Loss-of-function mutations reduce sodium current in cardiac myocytes | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain | 8.3 | Low |
| Smooth muscle | 6.7 | Low |
| Testis | 4.2 | Low |
| Kidney | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | 15.0 | High expression in heart tissue |
| Neurons | 9.5 | Moderate expression in brain |
| HEK293 | 0.5 | Low expression in cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.01% | Gain-of-function, associated with long QT syndrome |
| c.2345G>A (p.Gly782Asp) | Missense | 0.005% | Loss-of-function, associated with Brugada syndrome |
| c.3456del (p.Phe1152Leufs*3) | Frameshift | 0.001% | Loss-of-function, associated with epilepsy |
Mutation functional classification
Loss of Function (LOF)
Reduced sodium current in cardiac myocytes, leading to Brugada syndrome.
Gain of Function (GOF)
Prolonged repolarization, associated with long QT syndrome.
Dominant Negative (DN)
Not reported for SCN7A.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated sodium channel activity (GO:0005248) | • sodium ion transport (GO:0006814) |
| • membrane depolarization (GO:0051899) | • action potential (GO:0001508) |
| • plasma membrane (GO:0005886) |
Pathways
• Voltage-gated sodium channels (Reactome: R-HSA-5576892)
• Cardiac conduction (Reactome: R-HSA-5576891)
• Neuronal system (Reactome: R-HSA-112316)
Protein Summary
The SCN7A protein (NaV2.1) is a 2,000-amino-acid alpha subunit that forms a functional sodium channel. It contains four homologous domains (I-IV), each with six transmembrane segments (S1-S6). The S4 segment acts as a voltage sensor. The channel is responsible for the rapid depolarization phase of action potentials in excitable cells. Post-translational modifications include glycosylation and phosphorylation, which modulate channel activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCN7A Knockout HEK293 Cell Line | EDJ-KQ5723 | Human | 6332 | Details Get a Quote |
| SCN7A Knockout HeLa Cell Line | EDJ-KQ54404 | Human | 6332 | Details Get a Quote |
| SCN7A Knockout A-549 Cell Line | EDJ-KQ62895 | Human | 6332 | Details Get a Quote |
| SCN7A Knockout HCT 116 Cell Line | EDJ-KQ71360 | Human | 6332 | Details Get a Quote |
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