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. Acts upstream of or within several processes, including mechanosensory behavior; motor neuron axon guidance; and sodium ion 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; nervous system; otic vesicle; and trigeminal placode. 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
21 figures from 14 publications
Cross-Species Comparison
High Throughput Data
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
Allele Type Localization Consequence Mutagen Supplier
la022612TgTransgenic insertionUnknownUnknownDNA
la028527TgTransgenic insertionUnknownUnknownDNA
mi89Allele with one point mutationUnknownUnknownENU
mi130Allele with one point mutationUnknownMissenseENU
s3032Allele with one deletionExon 2UnknownCRISPR
sa12919Allele with one point mutationUnknownPremature StopENU
sa31090Allele with one point mutationUnknownSplice SiteENU
sa37728Allele with one point mutationUnknownSplice SiteENU
sa43994Allele with one point mutationUnknownSplice SiteENU
tW1752XAllele with one point mutationExon 9Premature StopENU
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Sequence Targeting Reagents
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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
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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
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Domain Details Per Protein
Protein Additional Resources 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
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 23
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA scn8aa-201 (1) Ensembl 6,814 nt
mRNA scn8aa-202 (1) Ensembl 6,804 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Construct Regulatory Region Coding Sequence Species Tg Lines Citations
Tg(scn8aa:EGFP)
  • scn8aa
  • Danio rerio
1 (4)
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Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-9P24ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanSCN8A12
Amino acid sequence comparison (2)
Nucleotide sequence comparison (1)
Conserved genome location (synteny) (1)
MouseScn8a15
Conserved genome location (synteny) (1)
Nucleotide sequence comparison (1)
Amino acid sequence comparison (1)
Citations
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