Gene

scn8ab

ID

ZDB-GENE-060906-2

Name

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

Symbol

scn8ab Nomenclature History

Previous Names

zscn1 (1)

Type

protein_coding_gene

Location

Chr: 6 Mapping Details/Browsers

Description

Predicted to enable voltage-gated sodium channel activity. Predicted to be involved in membrane depolarization during action potential; neuronal action potential; and sodium ion transmembrane transport. Predicted to act upstream of or within regulation of monoatomic ion transmembrane transport; sodium ion transport; and transmembrane transport. Predicted to be located in plasma membrane. Predicted to be part of voltage-gated sodium channel complex. Predicted to be active in axon. Is expressed in heart and nervous system. Human ortholog(s) of this gene implicated in benign familial infantile seizures 5 and developmental and epileptic encephalopathy 13. Orthologous to human SCN8A (sodium voltage-gated channel alpha subunit 8).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

7 figures from 7 publications

Cross-Species Comparison

High Throughput Data

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: 1 Figure from Osorio-Méndez et al., 2022
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With scn8ab 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 scn8ab 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:A0A8M3ATI6 InterPro	1958
UniProtKB:A0A8M2BDE6 InterPro	1969
UniProtKB:A0A8M9QAH6 InterPro	1969
UniProtKB:Q20JQ3 InterPro	1958
UniProtKB:A0A8M2BDI5 InterPro	1958