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
Enables voltage-gated sodium channel activity. Involved in membrane depolarization during action potential and neuronal action potential. Acts upstream of or within several processes, including mechanosensory behavior; motor neuron axon guidance; and sodium ion transmembrane transport. Predicted to be integral component of plasma membrane. Predicted to be part of voltage-gated sodium channel complex. Is expressed in heart; nervous system; otic vesicle; and trigeminal placode. 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).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
20 figures from 13 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
17 figures from 5 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
developmental and epileptic encephalopathy 13 Alliance Developmental and epileptic encephalopathy 13 614558
Cognitive impairment with or without cerebellar ataxia 614306
Seizures, benign familial infantile, 5 617080
?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 IPR024583 Voltage-gated Na+ ion channel, cytoplasmic domain
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 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
UniProtKB:Q9DF53 1949
UniProtKB:A0A2R8QLY1 1949
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