SCN2A sodium voltage-gated channel alpha subunit 2
Gene ID: 6326, updated on 11-Apr-2024Gene type: protein coding
Also known as: EA9; HBA; NAC2; BFIC3; BFIS3; BFNIS; DEE11; HBSCI; EIEE11; HBSCII; Nav1.2; SCN2A1; SCN2A2; Na(v)1.2
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- Go to complete Gene record for SCN2A
- Go to Variation Viewer for SCN2A variants
Summary
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants associated with general and MMR vaccine-related febrile seizures. GeneReviews: Not available | |
| Developmental and epileptic encephalopathy, 11 | See labs |
| Episodic ataxia, type 9 | See labs |
| Genome-wide association study of chronic periodontitis in a general German population. GeneReviews: Not available | |
| SCN2A-related generalized epilepsy with febrile seizures plus MedGen: CN120574GeneReviews: Not available | See labs |
| Seizures, benign familial infantile, 3 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-04-22) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-22) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 2q24.3
- Sequence:
- Chromosome: 2; NC_000002.12 (165239414..165392304)
- Total number of exons:
- 31
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SCN2A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SCN2A database
- Variation ViewerRelated Variants
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