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Scn8a
Gene Detail
 Symbol
Name
ID
Scn8a
sodium channel, voltage-gated, type VIII, alpha
MGI:103169
Synonyms ataxia 3, C630029C19Rik, med, mnd2, mnd-2, motor end-plate disease, NaCh6, Nav1.6, nmf2, nmf335, NMF335, nmf58, nur14, seal
Feature Type protein coding gene
Genetic Map
Chromosome 15
56.39 cM, cytoband F1
Detailed Genetic Map ± 1 cM


Mapping data(20)
Sequence Map
Chr15:100936271-101045929 bp, + strand
From NCBI annotation of GRCm38

  109659 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7927  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

Protein SuperFamily: voltage-gated sodium channel
Gene Tree: Scn8a

Human
homologs
Human Homolog SCN8A, sodium channel, voltage gated, type VIII, alpha subunit
NCBI Gene ID 6334
neXtProt AC  NX_Q9UQD0
Human Synonyms  CERIII, CIAT, EIEE13, MED, NaCh6, Nav1.6, PN4
Human Chr (Location)  12q13; chr12:51590266-51812864 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human SCN8A
Mutations,
alleles, and
phenotypes
All mutations/alleles(25) : Chemically induced (ENU)(9) Endonuclease-mediated(1) Gene trapped(3) Radiation induced(1) Spontaneous(6) Targeted(4) Transgenic(1)
Genomic Mutations involving Scn8a (1)
Incidental mutations (data from Mutagenetix , APF )
 
Spontaneous mutant homozygotes have ataxia, dystonia, muscular atrophy, progressive paralysis, Purkinje cell loss, in some cases severe head-tossing and for severe alleles, juvenile lethality. A mild, semidominant ENU allele causes deafness of variable penetrance and severity and mild tremor.
 
Interactions
Scn8a interacts with 520 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (43 annotations)
Process adult locomotory behavior, adult walking behavior, ...
Component axon initial segment, dendrite, ...
Function ATP binding, ion channel activity, ...
External Resources: FuncBase
Expression
Literature Summary: (9 records)
Data Summary: Results (105)    Tissues (32)    Images (22)
Theiler Stages: 20, 22, 23, 25, 26, 27, 28
Assay TypeResults
RNA in situ 73
RT-PCR 32
cDNA source data(42)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(52) Genomic(4) cDNA(42) Primer pair(4) Other(2)
Microarray probesets(7)
Other database
links
Ensembl Gene ModelENSMUSG00000023033 (Evidence)
Entrez Gene20273 (Evidence)
UniGene385012
DFCITC1586630, TC1596149, TC1604253, TC1608434, TC1657647, TC1658595, TC1775407
DoTSDT.110796600, DT.110796601, DT.110796629, DT.110796632, DT.40141098, DT.87042167, DT.91329971, DT.91368160, DT.94196156
NIA Mouse Gene IndexU016678
PDB3WFN
Consensus CDS ProjectCCDS57010.1, CCDS57011.1
International Mouse Knockout Project StatusScn8a
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 20273 NCBI Gene Model | MGI Sequence Detail 109659 C57BL/6J ±  kb
transcript NM_001077499 RefSeq | MGI Sequence Detail 11340 C57BL/6 
polypeptide Q9WTU3 UniProt | EBI | MGI Sequence Detail 1978 Not Applicable 

For the selected sequences
All sequences(80) RefSeq(20) UniProt(6)
Polymorphisms RFLP(1) : SNPs within 2kb(702 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR024583 Domain of unknown function DUF3451
InterPro IPR005821 Ion transport domain
InterPro IPR000048 IQ motif, EF-hand binding site
InterPro IPR010526 Sodium ion transport-associated
InterPro IPR027359 Voltage-dependent potassium channel, four helix bundle domain
InterPro IPR008054 Voltage gated sodium channel, alpha-8 subunit
InterPro IPR001696 Voltage gated sodium channel, alpha subunit
Protein Ontology PR:000002103 sodium channel protein type 8 subunit alpha
Graphical View of Protein Domain Structure
References (Earliest) J:28679 Searle AG, Provisional 'seal' (med). Mouse News Lett. 1962;27:34-5
(Latest) J:212131 Oliva MK, et al., Physiological and genetic analysis of multiple sodium channel variants in a model of genetic absence epilepsy. Neurobiol Dis. 2014 Jul;67:180-90
All references(148)
Other
accession IDs
MGD-MRK-12187, MGD-MRK-24035, MGI:2146092, MGI:2152446, MGI:2183468, MGI:2429910, MGI:2444216, MGI:2671467, MGI:3612947

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/26/2014
MGI 5.19
The Jackson Laboratory