Gene

scn8aa

ID

ZDB-GENE-000828-1

Name

sodium channel, voltage gated, type VIII, alpha subunit a

Symbol

scn8aa Nomenclature History

Previous Names

scn8a
zscn4 (1)
Nav1.6 (1)

Type

protein_coding_gene

Location

Chr: 23 Mapping Details/Browsers

Description

Exhibits voltage-gated sodium channel activity. Involved in several processes, including larval locomotory behavior; mechanosensory behavior; and motor neuron axon guidance. Predicted to localize to axon and voltage-gated sodium channel complex. Human ortholog(s) of this gene implicated in benign familial neonatal epilepsy and early infantile epileptic encephalopathy 13. Is expressed in heart; nervous system; otic vesicle; and trigeminal placode. Orthologous to human SCN8A (sodium voltage-gated channel alpha subunit 8).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

21 figures from 14 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 18 figures from 6 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With scn8aa Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
benign familial infantile seizures 5	Alliance	Seizures, benign familial infantile, 5	617080
developmental and epileptic encephalopathy 13	Alliance	Developmental and epileptic encephalopathy 13	614558
		Cognitive impairment with or without cerebellar ataxia	614306
		?Myoclonus, familial, 2	618364

Associated With scn8aa Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR005821	Ion transport domain
Domain	IPR010526	Sodium ion transport-associated domain
Domain	IPR024583	Voltage-gated Na+ ion channel, cytoplasmic domain
Domain	IPR044564	Voltage-gated sodium channel alpha subunit, inactivation gate
Family	IPR001696	Voltage gated sodium channel, alpha subunit
Family	IPR008054	Voltage gated sodium channel, alpha-8 subunit
Family	IPR043203	Voltage-gated cation channel calcium and sodium
Homologous_superfamily	IPR027359	Voltage-dependent channel domain superfamily

Domain Details Per Protein

Protein	Length	Ion transport domain	Sodium ion transport-associated domain	Voltage-dependent channel domain superfamily	Voltage-gated cation channel calcium and sodium	Voltage-gated Na+ ion channel, cytoplasmic domain	Voltage gated sodium channel, alpha-8 subunit	Voltage gated sodium channel, alpha subunit	Voltage-gated sodium channel alpha subunit, inactivation gate
UniProtKB:A0A8M3AYF6 InterPro	1949
UniProtKB:Q9DF53 InterPro	1949
UniProtKB:A0A8M9PT64 InterPro	1960
UniProtKB:A0A8M2B935 InterPro	1960
UniProtKB:A0A8M9P572 InterPro	1271
UniProtKB:A0A8M9PF51 InterPro	1259