Scn8a Gene Summary [Mouse]
Predicted to enable sodium ion binding activity and voltage-gated sodium channel activity. Acts upstream of or within several processes, including adult walking behavior; muscle organ development; and sensory perception of sound. Located in several cellular components, including Z disc; neuronal cell body; and node of Ranvier. Part of sodium channel complex. Is expressed in several structures, including gut; hemolymphoid system gland; metanephros; nervous system; and testis. Used to study early infantile epileptic encephalopathy and epilepsy. Human ortholog(s) of this gene implicated in benign familial infantile seizures 5 and developmental and epileptic encephalopathy 13. Orthologous to human SCN8A (sodium voltage-gated channel alpha subunit 8). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Scn8a |
| Official Name | sodium channel, voltage-gated, type VIII, alpha [Source:MGI Symbol;Acc:MGI:103169] |
| Ensembl ID | ENSMUSG00000023033 |
| Bio databases IDs | |
| Aliases | sodium channel, voltage-gated, type VIII, alpha |
| Synonyms | AI853486, BFIS5, C630029C19Rik, CERIII, CIAT, DEE13, dmu, EIEE13, FLJ33996, MED, mnd-2, MYOCL2, NaCh6, NaV1.6, nmf2, nmf335, nmf58, nur14, PN4, seal, sodium channel, voltage-gated, type VIII, alpha, sodium channel, voltage-gated, type VIII, α, sodium voltage-gated channel alpha subunit 8, sodium voltage-gated channel α subunit 8 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Scn8a often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Cytoplasmic domain of voltage-gated Na+ ion channel
- Ion transport protein
- metal ion binding
- protein binding
- ion channel
- Sodium ion transport-associated
- voltage-gated sodium channel
- MAP kinase-recognition module
- ankyrin binding domain
- Calmodulin-binding motif
- cytoplasmic loop
- transmembrane domain
- Polycystin cation channel
Pathways
Biological processes and signaling networks where the Scn8a gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
- Na+
- Ca2+
disease
- amyotrophic lateral sclerosis
- Ohtahara syndrome
- early infantile epileptic encephalopathy type 13
- Huntington disease
- hereditary disorder
- cognitive impairment with or without cerebellar ataxia
- benign familial infantile seizures 5
- Alzheimer disease
- complex neurodevelopmental disorder
- major depression
phenotypes
- preweaning lethality incomplete penetrance
- Purkinje cell degeneration
- abnormal action potential
- abnormal atrium endocardium morphology
- abnormal auditory brainstem response waveform shape
- abnormal behavior
- abnormal brain morphology
- abnormal cerebellum external granule cell layer morphology
- abnormal endplate potential
- abnormal eye electrophysiology
- abnormal gait
- abnormal heart septum morphology
- abnormal heart ventricle morphology
- abnormal locomotor behavior
- abnormal miniature endplate potential
- abnormal motor capabilities/coordination/movement
- abnormal motor coordination/ balance
- abnormal muscle physiology
- abnormal muscle tone
- abnormal nerve conduction
- abnormal nervous system electrophysiology
- abnormal neuromuscular synapse morphology
- abnormal neuron physiology
- abnormal pilomotor reflex
- abnormal pinna reflex
- abnormal posture
- abnormal reflex
- abnormal spike wave discharge
- abnormal ventral spinal root morphology
- abnormal voluntary movement
- absent pinna reflex
- ataxia
- axon degeneration
- cervical vertebrae degeneration
- decreased Purkinje cell number
- decreased body size
- decreased body weight
- decreased cerebellar granule cell number
- decreased grip strength
- decreased nerve conduction velocity
- decreased skeletal muscle fiber size
- decreased startle reflex
- decreased susceptibility to pharmacologically induced seizures
- demyelination
- dystonia
- dystrophic muscle
- enhanced behavioral response to anesthetic
- enlarged brain ventricles
- head tossing
- hindlimb paralysis
- hunched posture
- hydrocephaly
- hypoactivity
- impaired balance
- impaired coordination
- impaired hearing
- impaired limb coordination
- impaired muscle relaxation
- increased anxiety-related response
- increased or absent threshold for auditory brainstem response
- limb grasping
- muscle degeneration
- muscle weakness
- muscular atrophy
- myocardial fiber degeneration
- myoclonus
- myopathy
- oligozoospermia
- paralysis
- paraparesis
- peripheral nervous system degeneration
- postnatal lethality
- postnatal lethality complete penetrance
- postnatal lethality incomplete penetrance
- premature death
- progressive muscle weakness
- respiratory distress
- seizures
- skeletal muscle necrosis
- small cerebellum
- tremors
role in cell
- apoptosis
- proliferation
- migration
- hyperexcitability
- invasion
- invasion by
- simple spike action potential by
- action potential in
- diastolic calcium release in
- action potential
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- glutaminergic synapse
- cell junction
- axon component
- cellular membrane
- podosomes
- vesicles
- intermediate filaments
- presynaptic membrane
- postsynaptic membrane
- synaptic membrane
- nodes of Ranvier
- axon initial segments
- nodal axolemma
- Z line
- smooth endoplasmatic reticulum
- rough endoplasmatic reticulum
- actin stress fibers
- perikaryon
- axons
- dendrites
- excitatory synapses
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Scn8a gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cardiac muscle cell action potential involved in contraction
- sodium ion transport
- nervous system development
- peripheral nervous system development
- sodium ion transmembrane transport
- myelination
- regulation of action potential in neuron
- optic nerve development
Cellular Component
Where in the cell the gene product is active
- Z disc
- initial segment
- membrane
- voltage-gated sodium channel complex
- node of Ranvier
- cytoplasmic vesicle
- cell junction
- presynaptic active zone membrane
- plasma membrane
- axon
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- sodium ion binding
- voltage-gated sodium channel activity