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; 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; chr12:51985020-52206648 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human SCN8A

Alleles and phenotypes

All alleles(21) : Targeted(4) Gene trapped(3) Transgenic(1) Spontaneous(5) Chemically induced(8)
 

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.

 

Gene Ontology (GO) classifications

All GO classifications: (39 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 (30)    Images (22)
Theiler Stages: 20, 22, 23, 25, 26, 28

Assay Type	Results
RNA in situ	73
RT-PCR	32

cDNA source data(44)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(54) Genomic(4) cDNA(44) Primer pair(4) Other(2)
Microarray probesets(7)

Other database links

Ensembl Gene Model	ENSMUSG00000023033 (Evidence)
Entrez Gene	20273 (Evidence)
UniGene	385012
DFCI	TC1586630, TC1596149, TC1604253, TC1608434, TC1657647, TC1658595, TC1775407
DoTS	DT.110796600, DT.110796601, DT.110796629, DT.110796632, DT.40141098, DT.87042167, DT.91329971, DT.91368160, DT.94196156
NIA Mouse Gene Index	U016678
Consensus CDS Project	CCDS57010.1, CCDS57011.1
International Mouse Knockout Project Status	Scn8a

Sequences

Length	Strain/Species
genomic	20273	NCBI Gene Model | MGI Sequence Detail	109659	C57BL/6J
transcript	NM_001077499	RefSeq | MGI Sequence Detail	11340	C57BL/6
polypeptide	Q9WTU3	UniProt | EBI | MGI Sequence Detail	1978	Not Applicable

All sequences(64) RefSeq(4) UniProt(6)

Polymorphisms

RFLP(1) : SNPs(518 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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	IPR008054	Voltage gated sodium channel, alpha-8 subunit
InterPro	IPR001696	Voltage gated sodium channel, alpha subunit
Protein Ontology	PR:000002103	sodium channel 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:186617 Hao MM, et al., Early development of electrical excitability in the mouse enteric nervous system. J Neurosci. 2012 Aug 8;32(32):10949-60
All references(140)

Other accession IDs

MGD-MRK-12187, MGD-MRK-24035, MGI:2146092, MGI:2152446, MGI:2183468, MGI:2429910, MGI:2444216, MGI:2671467, MGI:3612947