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

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable voltage-gated sodium channel activity. Acts upstream of or within axon regeneration and fin regeneration. 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 bone tissue; 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	Additional Resources	Length
UniProtKB:A0A8M3ATI6	InterPro	1958
UniProtKB:A0A8M2BDE6	InterPro	1969
UniProtKB:A0A8M9QAH6	InterPro	1969
UniProtKB:Q20JQ3	InterPro	1958
UniProtKB:A0A8M2BDI5	InterPro	1958
UniProtKB:A0AB32TQ02	InterPro	1958
UniProtKB:A0AB32TQ03	InterPro	1958
UniProtKB:A0AB32TVZ7	InterPro	1969