Scn8a - sodium channel, voltage-gated, type VIII, alpha Gene

Mus musculus

Also known as dmu; med; mnd2; nmf2; seal; NaCh6; mnd-2; nmf58; nur14; Nav1.6; nmf335; C630029C19Rik

Gene ID: 20273 | Gene type: protein coding

About Scn8a

Chromosome 15: 100,767,739-100,943,819 forward strand.GRCm39:CM001008.3

This gene has 20 transcripts (splice variants), 276 orthologues, 26 paralogues and is associated with 83 phenotypes. Biased expression in cortex adult (RPKM 21.8), cerebellum adult (RPKM 21.1) and 5 other tissues.

Summary

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 heart; metanephros; nervous system; and nucleus pulposus. Used to study early infantile epileptic encephalopathy and epilepsy. Human ortholog(s) of this gene implicated in benign familial neonatal epilepsy and developmental and epileptic encephalopathy 13. Orthologous to human SCN8A (sodium voltage-gated channel alpha subunit 8). [provided by Alliance of Genome Resources, Apr 2022]

Scn8a Products(2)

mRNA	Protein	Name
NM_001077499.2	NP_001070967.1	sodium channel protein type 8 subunit alpha isoform 1
NM_011323.3	NP_035453.2	sodium channel protein type 8 subunit alpha isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22474336	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within adult walking behavior	IMP IMP: Inferred from mutant phenotype	7670495	MGI
acts upstream of or within locomotory behavior	IMP IMP: Inferred from mutant phenotype	12920299	MGI
acts upstream of or within muscle organ development	IMP IMP: Inferred from mutant phenotype	15170223	MGI
acts upstream of or within nerve development	IGI IGI: Inferred from genetic interaction	21156207	MGI
acts upstream of or within nerve development	IMP IMP: Inferred from mutant phenotype	21156207	MGI
acts upstream of or within response to toxic substance	IDA IDA: Inferred from direct assay	16029194	MGI
acts upstream of or within sensory perception of sound	IMP IMP: Inferred from mutant phenotype	12204355	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in Z disc	IDA IDA: Inferred from direct assay	17884088	MGI
located in dendrite	IDA IDA: Inferred from direct assay	17928448	MGI
located in membrane	IDA IDA: Inferred from direct assay	17537961	MGI
located in neuronal cell body	IDA IDA: Inferred from direct assay	17928448	MGI
located in node of Ranvier	IDA IDA: Inferred from direct assay	11807096	MGI
part of sodium channel complex	IPI IPI: Inferred from physical interaction	15272007	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Scn8a Protein Structure

Ion_trans

Na_trans_cytopl

Ion_trans

Na_trans_assoc

Ion_trans

Na_channel_gate

Ion_trans

GPHH

0
400
800
1200
1600
1978 a.a.

Protein Preferred Names

Protein Names

sodium channel protein type 8 subunit alpha

ataxia 3	sodium channel protein type VIII subunit alpha
voltage-gated sodium channel alpha subunit	voltage-gated sodium channel subunit alpha Nav1.6

Scn8a Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	Scn8a	Q9WTU3	Map1b	Mus musculus	P14873	Anti Tag CoIP	22474336

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-148792	Relutrigine	Inhibitor	99.13%	Unkown
HY-RS12545	SCN8A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS12546	Scn8a Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS12547	Scn8a Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Scn8a	NCBI	NCBI:6334

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