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Scn8a Gene Detail
Summary
  • Symbol
    Scn8a
  • Name
    sodium channel, voltage-gated, type VIII, alpha
  • 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
  • IDs
    MGI:103169
    NCBI Gene: 20273
  • Gene Overview
    MyGene.info: SCN8A
Location & Maps
more
  • Sequence Map
    Chr15:100869858-101045938 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      176081 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 56.39 cM, cytoband F1
  • Mapping Data
    20 experiments
Homology
more
  • Human Ortholog
    SCN8A, sodium voltage-gated channel alpha subunit 8
  • Vertebrate Orthologs
    11
  • Human Ortholog
    SCN8A, sodium voltage-gated channel alpha subunit 8
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BFIS5, CERIII, CIAT, EIEE13, MED, NaCh6, Nav1.6, PN4
  • Links
    NCBI Gene ID: 6334
    neXtProt AC: NX_Q9UQD0

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

Human Diseases
more
  • Diseases
    3 with human SCN8A associations

Human Disease Mouse Models
       Cognitive Impairment with or without Cerebellar Ataxia; CIAT   OMIM: 614306
Epileptic Encephalopathy, Early Infantile, 13; EIEE13   OMIM: 614558
Seizures, Benign Familial Infantile, 5; BFIS5   OMIM: 617080
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    85 phenotypes from 21 alleles in 30 genetic backgrounds
    16 phenotypes from multigenic genotypes
    111 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    38
  • Chemically induced (ENU)
    10
  • Chemically induced (other)
    1
  • Endonuclease-mediated
    1
  • Gene trapped
    10
  • Radiation induced
    2
  • Spontaneous
    8
  • Targeted
    5
  • Transgenic
    1
  • Genomic Mutations
    3 involving Scn8a
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000055611 VEGA Gene Model | MGI Sequence Detail 176081 C57BL/6J ±  kb
transcript OTTMUST00000137635 VEGA | MGI Sequence Detail 11436 Not Applicable  
polypeptide OTTMUSP00000072461 VEGA | MGI Sequence Detail 1988 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    698 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    16 Sequences
  • Protein Ontology
    PR:000002103 sodium channel protein type 8 subunit alpha
  • PDB
  • InterPro Domains
    IPR005821 Ion transport domain
    IPR000048 IQ motif, EF-hand binding site
    IPR010526 Sodium ion transport-associated
    IPR027359 Voltage-dependent channel, four helix bundle domain
    IPR024583 Voltage-gated Na+ ion channel, cytoplasmic domain
    IPR008054 Voltage gated sodium channel, alpha-8 subunit
    IPR001696 Voltage gated sodium channel, alpha subunit
Molecular
Reagents
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  • All nucleic 52
    Genomic 4
    cDNA 42
    Primer pair 4
    Other 2

    Microarray probesets 7
Other
Accession IDs
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MGD-MRK-12187, MGD-MRK-24035, MGI:2146092, MGI:2152446, MGI:2183468, MGI:2429910, MGI:2444216, MGI:2671467, MGI:3612947
References
more
  • Summaries
    All 160
    Developmental Gene Expression 10
    Diseases 1
    Gene Ontology 18
    Phenotypes 111
  • Earliest
    J:28679 Searle AG, Provisional 'seal' (med). Mouse News Lett. 1962;27:34-5
  • Latest
    J:230867 Jones JM, et al., Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder. Neurobiol Dis. 2016 May;89:36-45

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
09/20/2016
MGI 6.05
The Jackson Laboratory