SCN2A Chromosome 2
Sodium voltage-gated channel alpha subunit 2
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What This Gene Does
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]
Gene Info
Gene Group
Sodium voltage-gated channel alpha subunits
Locus Type
gene with protein product
Location
2q24.3
Ensembl
ENSG00000136531
Associated Conditions (57)
Seizures
benign familial infantile
3
Developmental and epileptic encephalopathy
11
Inborn genetic diseases
SCN2A-mediated disorder
Intellectual disability
Complex neurodevelopmental disorder
Episodic ataxia
type 9
Genetic developmental and epileptic encephalopathy
SCN2A-related disorder
See cases
Seizure
Pyridoxine-dependent epilepsy
Febrile seizure (within the age range of 3 months to 6 years)
Self-limited epilepsy with centrotemporal spikes
Hemiplegia/hemiparesis
Spastic ataxia
+37 more conditions
Key Variants
RS1007052146
Conflicting classifications of pathogenicity
Seizures, benign familial infantile, 3
Health Risk
RS1008211605
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 11, Developmental and epileptic encephalopathy
Health Risk
RS1015952309
Conflicting classifications of pathogenicity
Seizures, benign familial infantile, 3
Health Risk
RS1057518048
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 11
Health Risk
RS1057518373
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 11, Seizures
Health Risk
RS1057523786
Conflicting classifications of pathogenicity
Seizures, benign familial infantile, 3
Health Risk
RS1064795832
Conflicting classifications of pathogenicity
Health Risk
RS1064796373
Conflicting classifications of pathogenicity
Seizures, benign familial infantile, 3
Health Risk
RS1064797263
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 11, Seizures
Health Risk
RS1131691951
Conflicting classifications of pathogenicity
Seizures, benign familial infantile, 3
Health Risk
RS115231482
Conflicting classifications of pathogenicity
Seizures, benign familial infantile, 3
Health Risk
RS1162322343
Conflicting classifications of pathogenicity
Seizures, benign familial infantile, 3
Health Risk
All Variants (674)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2105244912 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 11, Seizures |
| RS2105245017 | Health Risk | Likely pathogenic | Seizures, benign familial infantile, 3 |
| RS2105247310 | Health Risk | Likely pathogenic | — |
| RS2105251415 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 11, Developmental and epileptic encephalopathy |
| RS2105251544 | Health Risk | Likely pathogenic | — |
| RS2105255430 | Health Risk | Likely pathogenic | Seizures, benign familial infantile, 3 |
| RS2105259560 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2105318837 | Health Risk | Likely pathogenic | Seizures, benign familial infantile, 3 |
| RS2105319097 | Health Risk | Likely pathogenic | — |
| RS2105319167 | Health Risk | Likely pathogenic | Benign familial infantile epilepsy, Seizures, benign familial infantile |
| RS2105319172 | Health Risk | Likely pathogenic | Seizures, benign familial infantile, 3 |
| RS2105319200 | Health Risk | Likely pathogenic | Seizures, benign familial infantile, 3 |
| RS2105319230 | Health Risk | Likely pathogenic | Seizures, benign familial infantile, 3 |
| RS2105336825 | Health Risk | Likely pathogenic | Abnormal cerebral morphology, Abnormal cerebral morphology |
| RS2105336842 | Health Risk | Likely pathogenic | Seizures, benign familial infantile, 3 |
| RS2105336868 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 11, Developmental and epileptic encephalopathy |
| RS2105365149 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2105373101 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 11, Seizures |
| RS2105384651 | Health Risk | Likely pathogenic | — |
| RS2105384764 | Health Risk | Likely pathogenic | SCN2A-related disorder, Developmental and epileptic encephalopathy, 11 |
| RS2105384791 | Health Risk | Likely pathogenic | — |
| RS2105385669 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 11, Seizures |
| RS2105385694 | Health Risk | Likely pathogenic | Seizures, benign familial infantile, 3 |
| RS2105398203 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 11, Developmental and epileptic encephalopathy |
| RS2105398592 | Health Risk | Likely pathogenic | — |
| RS2105403536 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 11, Seizures |
| RS2106151229 | Health Risk | Likely pathogenic | — |
| RS2467844829 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 11, Seizures |
| RS2467884030 | Health Risk | Likely pathogenic | — |
| RS2467886070 | Health Risk | Likely pathogenic | SCN2A-related disorder, SCN2A-related disorder |
| RS2467886849 | Health Risk | Likely pathogenic | SCN2A-related disorder, SCN2A-related disorder |
| RS2467887062 | Health Risk | Likely pathogenic | SCN2A-related disorder, SCN2A-related disorder |
| RS2467890178 | Health Risk | Likely pathogenic | Inborn genetic diseases, Seizures, benign familial infantile |
| RS2467890286 | Health Risk | Likely pathogenic | SCN2A-related disorder, SCN2A-related disorder |
| RS2467890325 | Health Risk | Likely pathogenic | Episodic ataxia, type 9, Episodic ataxia |
| RS2467890450 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 11, Developmental and epileptic encephalopathy |
| RS2467895421 | Health Risk | Likely pathogenic | SCN2A-related disorder, SCN2A-related disorder |
| RS2467901322 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 11, Developmental and epileptic encephalopathy |
| RS2467902634 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 11, Developmental and epileptic encephalopathy |
| RS2467909264 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 11, Developmental and epileptic encephalopathy |
| RS2467933218 | Health Risk | Likely pathogenic | Seizures, benign familial infantile, 3 |
| RS2467933997 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 11, Developmental and epileptic encephalopathy |
| RS2467934185 | Health Risk | Likely pathogenic | Episodic ataxia, type 9, Seizures |
| RS2467961957 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 11, Developmental and epileptic encephalopathy |
| RS2467962097 | Health Risk | Likely pathogenic | — |
| RS2467999221 | Health Risk | Likely pathogenic | SCN2A-related disorder, SCN2A-related disorder |
| RS2468008210 | Health Risk | Likely pathogenic | SCN2A-related disorder, SCN2A-related disorder |
| RS2468008251 | Health Risk | Likely pathogenic | Infantile spasms, Infantile spasms |
| RS2468008256 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2468008587 | Health Risk | Likely pathogenic | Epilepsy of infancy with migrating focal seizures, Epilepsy of infancy with migrating focal seizures |