Gene
SCN2A
sodium voltage-gated channel alpha subunit 2
- HGNC 10588↗(opens in a new tab)
- Ensembl gene ENSG00000136531↗(opens in a new tab)
- NCBI Gene 6326↗(opens in a new tab)
Summary
- Cytogenetic location
- 2q24.3
- Coordinates
- Chromosome 2: 165,239,414–165,392,304 (GRCh38)
- Exons
- 27 exons across 152.9 kb
- Protein
- 2,005 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- Nav1.2, HBSCII, HBSCI
- Previous symbols
- SCN2A1, SCN2A2
- MANE Select transcript
- ENST00000375437.7NM_001040142.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Hereditary Episodic Ataxias
- Hereditary Episodic AtaxiaAutosomal dominant
A group of dominantly inherited ataxias with attacks of imbalance, including EA1 (KCNA1), EA2 (CACNA1A) and EA6 (SLC1A3).
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Episodic ataxia type 2 often responds to acetazolamide or 4-aminopyridine, and avoiding known triggers can reduce attacks.
Broader groupings
Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- 3 GenCC submitters rate it definitive or strong
Intellectual Disability
One of 233 genes linked to it
- 1 GenCC submitter rates it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How SCN2A is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 8.8 kb of the gene's 152.9 kb; 6,018 of those bases code for the protein.
How a genome test reads SCN2A
433
positions in SCN2A where ClinVar classes a change as pathogenic or likely pathogenic
36 of them (8.3%) fall in regions short reads find hard.
- Low mappability (36 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
A whole genome covers all 152.9 kb of SCN2A, introns included, not only the 8.8 kb of exons.
Genes linked to the same conditions
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 2 conditions
- ATP6AP2ATPase H+ transporting accessory protein 2Shares 2 conditions
- CACNA1Acalcium voltage-gated channel subunit alpha1 AShares 2 conditions
- FGF13fibroblast growth factor 13Shares 2 conditions
- GRIN1glutamate ionotropic receptor NMDA type subunit 1Shares 2 conditions
- GRIN2Bglutamate ionotropic receptor NMDA type subunit 2BShares 2 conditions
- KCNA1potassium voltage-gated channel subfamily A member 1Shares 2 conditions
- MECP2methyl-CpG binding protein 2Shares 2 conditions
- NACC1nucleus accumbens associated 1Shares 2 conditions
- NUS1NUS1 dehydrodolichyl diphosphate synthase subunitShares 2 conditions
- OTUD6BOTU deubiquitinase 6BShares 2 conditions
- PCDH19protocadherin 19Shares 2 conditions
Traits linked to SCN2A
The Human Phenotype Ontology lists these as features of the rare conditions SCN2A can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Autism
- Bilateral tonic-clonic seizure with focal onset
- Cerebellar edema
- Delayed ability to stand
- Dystonia
- Encephalopathy
- Epilepsy
- Epileptic encephalopathy
Show 116 more traits
- Episodic ataxia
- Fluid-filled sac located in membrane surrounding brain or spinal cord
- Generalized brain degeneration
- Grand mal seizures
- Hyperactive movements
- Intellectual disability, severe
- Repeated seizures without recovery between them
- Severe global developmental delay
- Tonic seizure
- Cognitive impairment
- Episodic hemiplegia
- Focal motor seizure
- Generalized myoclonic seizure
- Generalized-onset seizure
- Global developmental delay
- Hypsarrhythmia
- Inability to walk
- Infantile spasms
- Intellectual disability
- Jerking
- Loss of developmental milestones
- Multifocal epileptiform discharges
- Neonatal seizure
- Neurodevelopmental delay
- Normal interictal EEG
- Progressive gait ataxia
- Seizure affecting one half of brain
- Abnormal autonomic nervous system physiology
- Abnormality of the nervous system
- Anxiety
- Ataxia
- Atypical absence seizure
- Autism spectrum disorder
- Behavioral abnormality
- Brief seizures with staring spells
- Chorea
- Choreoathetosis
- Complex febrile seizure
- Degeneration of cerebrum
- Delayed speech and language development
- Difficulty sleeping
- EEG abnormality
- EEG with burst suppression
- EEG with focal spikes
- Epilepsia partialis continua
- Febrile seizure (within the age range of 3 months to 6 years)
- Focal aware seizure
- Focal clonic seizure
- Focal emotional seizure with laughing
- Focal hemiclonic seizure
- Focal impaired awareness autonomic seizure
- Focal impaired awareness seizure
- Focal tonic seizure
- Generalized clonic seizure
- Generalized tonic seizure
- Increased reflexes
- Interictal epileptiform activity
- Involuntary movements
- Involuntary writhing movements in fingers, hands, toes, and feet
- Lethargy
- Myoclonic seizure
- Obsessive-compulsive trait
- Parkinsonism
- Paroxysmal dyskinesia
- Photosensitive myoclonic seizure
- Photosensitive tonic-clonic seizure
- Slow movements
- Tetraparesis
- Abnormal corpus callosum morphology
- Abnormal pyramidal sign
- Absent reflexes
- Action tremor
- Aggressive behavior
- Atypical absence status epilepticus
- Balance impairment
- Bulbar signs
- Can't control feelings
- Clonic seizure
- Cortical dysplasia
- Degeneration of cerebellum
- Delayed myelination
- Difficulty articulating speech
- Diffuse cerebral atrophy
- Diffuse white matter abnormalities
- Disorder of involuntary muscle movements
- Dysgenesis of the hippocampus
- EEG with focal epileptiform discharges
- EEG with generalized epileptiform discharges
- EEG with spike-wave complexes
- Epileptic spasm
- Experiential epileptic aura
- Eyelid myoclonia seizure
- Fewer and broader ridges in brain
- Focal head nodding automatism seizure
- Generalized cerebral degeneration/underdevelopment
- Headache
- Impulsivity
- Incoordination
- Limb myoclonus
- More active than typical
- Neonatal electro-clinical seizure with behavior arrest
- Poor fine motor coordination
- Self-injurious behavior
- Short attention span
- Slurred speech
- Status epilepticus without prominent motor symptoms
- Sudden loss of muscle tone
- Tremor
- Underdevelopment of part of brain called corpus callosum
- Uni- and bilateral multifocal epileptiform discharges
- Worsening neurological symptoms
- Continuous spike and waves during slow sleep
- Mental deterioration
- Simple febrile seizure
- Brain imaging abnormality
- Psychomotor deterioration
Abnormality of the digestive system
- Vomiting
- Abnormality of the gastrointestinal tract
- Gastrointestinal dysmotility
- Abdominal bloating
- Anorexia
- Constipation
- Diarrhea
- Feeding difficulties
Show 5 more traits
Abnormality of the eye
- Involuntary, rapid, rhythmic eye movements
- Abnormal involuntary eye movements
- Dilated pupil
- Inward turning cross eyed
- Outward facing eye ball
- Ocular flutter
- Oculomotor apraxia
- Staring gaze
Show 2 more traits
Abnormality of the musculoskeletal system
- Functional motor deficit
- Cogwheel rigidity
- Decreased muscle tone in infant
- Low muscle tone
- Poor head control
- Rigidity
- Involuntary muscle stiffness, contraction, or spasm
- Scoliosis
Show 2 more traits
Abnormality of limbs
- Dropped arches
- Limited knee straightening
- Pes valgus
- Skewfoot
- Tibial torsion
- Broad finger
- Short finger
- Talipes valgus
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SCN2A gene: sodium voltage-gated channel alpha subunit 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/scn2a
Dante Labs. SCN2A gene: sodium voltage-gated channel alpha subunit 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/scn2a
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