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

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

Species: Mus musculus

Gene Type: protein coding
Gene ID: 20273

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
22474336 MGI
Biological Process GO Annotation Evidence References 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 References 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

Ion_trans: pfam00520 (130 - 420)

Na_trans_cytopl

Na_trans_cytopl: pfam11933 (545 - 699)

Ion_trans

Ion_trans: pfam00520 (749 - 962)

Na_trans_assoc

Na_trans_assoc: pfam06512 (988 - 1189)

Ion_trans

Ion_trans: pfam00520 (1194 - 1470)

Na_channel_gate

Na_channel_gate: cd13433 (1462 - 1514)

Ion_trans

Ion_trans: pfam00520 (1519 - 1773)

GPHH

GPHH: cl25190 (1785 - 1832)

IQ

IQ: smart00015 (1891 - 1912)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
Scn8a Q9WTU3 Map1b Mus musculus P14873
Anti Tag CoIP
22474336
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

  • Clinical Phase
  • Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Phase
HY-148792 Relutrigine Inhibitor 99.33% Phase 3
HY-147423 Zandatrigine Inhibitor 99.28% Phase 2

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS12545 SCN8A Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS12546 Scn8a Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS12547 Scn8a Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Scn8a NCBI NCBI:6334