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 have 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 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 and nervous system. 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
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 1958
UniProtKB:A0A8M2BDE6 1969
UniProtKB:A0A8M9QAH6 1969
UniProtKB:Q20JQ3 1958
UniProtKB:A0A8M2BDI5 1958
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations