SCN8A Gene Summary [Human]
This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | SCN8A |
| Official Name | sodium voltage-gated channel alpha subunit 8 [Source:HGNC Symbol;Acc:HGNC:10596] |
| Ensembl ID | ENSG00000196876 |
| Bio databases IDs | |
| Aliases | sodium voltage-gated channel alpha subunit 8 |
| 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 | Human, Homo sapiens |
| 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 human 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 human 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.
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
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 human 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