SCN2A
Sodium Voltage-Gated Channel Alpha Subunit 2
Gene Information Card
| Symbol | SCN2A |
|---|---|
| Full Name | Sodium Voltage-Gated Channel Alpha Subunit 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q24.3 |
| NCBI Gene ID | 6326 ncbi.nlm.nih.gov/gene/6326 |
| Ensembl ID | ENSG00000136531 |
| UniProt ID | Q99250 |
| OMIM ID | 182390 |
| HGNC ID | 10588 |
| Aliases | Nav1.2, SCN2A1, SCN2A2, HBSC2, EIEE11, BFIS3, BFNIS, DEE11 |
Description
The SCN2A gene encodes the alpha subunit of the voltage-gated sodium channel Nav1.2, which is critical for the initiation and propagation of action potentials in neurons. Mutations in SCN2A are associated with a spectrum of neurodevelopmental disorders including early infantile epileptic encephalopathy, benign familial infantile seizures, autism spectrum disorder, and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental and Epileptic Encephalopathy 11 (DEE11) | Loss-of-function or gain-of-function mutations disrupt neuronal excitability | ClinVar, OMIM |
| Benign Familial Infantile Seizures 3 (BFIS3) | Gain-of-function mutations increase channel activity | ClinVar, OMIM |
| Autism Spectrum Disorder (ASD) | Rare variants alter synaptic transmission and network development | NCBI, ClinVar |
| Intellectual Disability | Channel dysfunction impairs cognitive development | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 29.8 | High |
| Cerebral Cortex | 32.1 | High |
| Hippocampus | 28.5 | High |
| Cerebellum | 15.2 | Medium |
| Spinal Cord | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 12.3 | Neuroblastoma cell line |
| SK-N-SH | 10.7 | Neuroblastoma cell line |
| HEK293 | 0.5 | Low expression |
| iPSC-derived neurons | 25.6 | Differentiated neurons |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2556G>A (p.Met852Ile) | Missense | Rare | Gain-of-function; associated with epilepsy |
| c.3985C>T (p.Arg1329Ter) | Nonsense | Rare | Loss-of-function; truncation |
| c.4888G>A (p.Glu1630Lys) | Missense | Rare | Gain-of-function; early-onset encephalopathy |
| c.677C>T (p.Thr226Met) | Missense | Rare | Loss-of-function; autism spectrum disorder |
Mutation functional classification
Loss of Function (LOF)
Reduced sodium current, neuronal hypoexcitability, associated with autism and intellectual disability.
Gain of Function (GOF)
Increased sodium current, neuronal hyperexcitability, associated with epilepsy and infantile seizures.
Dominant Negative (DN)
Mutant subunits interfere with wild-type channel function, leading to mixed phenotypes.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated sodium channel activity | • sodium ion transmembrane transport |
| • action potential propagation | • neuronal action potential |
| • axon initial segment |
Pathways
• Voltage-gated sodium channels
• Neurotransmitter release cycle
• Cardiac conduction
• Axonal guidance
Protein Summary
Nav1.2 is a 2005-amino-acid protein forming the pore of voltage-gated sodium channels. It is highly expressed in the brain, particularly in axons and dendrites, and mediates rapid depolarization during action potentials. Alternative splicing generates isoforms with distinct properties.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCN2A Knockout HEK293 Cell Line | EDJ-KQ2045 | Human | 6326 | Details Get a Quote |
| SCN2A Knockout HeLa Cell Line | EDJ-KQ54398 | Human | 6326 | Details Get a Quote |
| SCN2A Knockout A-549 Cell Line | EDJ-KQ62889 | Human | 6326 | Details Get a Quote |
| SCN2A Knockout HCT 116 Cell Line | EDJ-KQ71355 | Human | 6326 | Details Get a Quote |
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