| Primary Identifier | MGI:98248 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 110876 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables voltage-gated sodium channel activity. Involved in memory and sodium ion transmembrane transport. Acts upstream of or within several processes, including determination of adult lifespan; intrinsic apoptotic signaling pathway in response to osmotic stress; and nervous system development. Located in T-tubule; intercalated disc; and paranode region of axon. Is active in glutamatergic synapse and presynaptic membrane. Is expressed in heart and nervous system. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in benign familial infantile seizures 3; developmental and epileptic encephalopathy 11; and episodic ataxia type 9. Orthologous to human SCN2A (sodium voltage-gated channel alpha subunit 2). PHENOTYPE: Homozygotes for a targeted mutation exhibit excess neuronal apoptosis (especially in the brainstem), reduced neuronal sodium channel currents in vitro, and severe hypoxia resulting in neonatal lethality. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
