2. Gene
  3. Scn8a - sodium channel, voltage-gated, type VIII, alpha Gene

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

  • Gene
  • Protein
  • Agent
  • Ortholog
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

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)

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  • 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

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