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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
Chr15:100870683-101045929 bp, + strand
From Ensembl annotation of GRCm38

  175247 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

HCOP human homology predictions: SCN8A
Protein SuperFamily: voltage-gated sodium channel
Gene Tree: Scn8a

Human
homologs
SCN8A, sodium channel, voltage gated, type VIII alpha subunit
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 6334
neXtProt AC: NX_Q9UQD0

Human Synonyms: CERIII, CIAT, EIEE13, MED, NaCh6, Nav1.6, PN4

Human Chr (Location): 12q13; chr12:51590193-51812864 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human SCN8A

Mutations,
alleles, and
phenotypes
All mutations/alleles(34) : Chemically induced (ENU)(10) Endonuclease-mediated(1) Gene trapped(10) Radiation induced(1) Spontaneous(7) Targeted(4) Transgenic(1)
Genomic Mutations involving Scn8a (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Phenotype Images(2)
Interactions
Scn8a interacts with 519 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (45 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)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 73
RT-PCR 32
cDNA source data(42)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase scn8a ; ZFIN scn8aa, scn8ab    NEW 
Molecular
reagents
All nucleic(52) Genomic(4) cDNA(42) Primer pair(4) Other(2)
Microarray probesets(7)
Other database
links
Ensembl Gene Model ENSMUSG00000023033 (Evidence)
Entrez Gene 20273 (Evidence)
UniGene 385012
DFCI TC1608434, TC1604253, TC1596149, TC1586630, TC1658595, TC1657647, TC1775407
DoTS DT.110796600, DT.40141098, DT.110796632, DT.110796629, DT.110796601, DT.91368160, DT.91329971, DT.87042167, DT.94196156
NIA Mouse Gene Index U016678
PDB 3WFN
Consensus CDS Project CCDS57010.1, CCDS57011.1
International Mouse Phenotyping Consortium Status Scn8a
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000023033 Ensembl Gene Model | MGI Sequence Detail 175247 C57BL/6J ±  kb
transcript ENSMUST00000082209 Ensembl | MGI Sequence Detail 11293 Not Applicable 
polypeptide ENSMUSP00000080842 Ensembl | 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
References
(Earliest) J:28679 Searle AG, Provisional 'seal' (med). Mouse News Lett. 1962;27:34-5
(Latest) J:217306 Wagnon JL, et al., Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy. Hum Mol Genet. 2015 Jan 15;24(2):506-15
All references(154)
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
07/21/2015
MGI 5.22
The Jackson Laboratory