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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
  • Alliance
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:100869858-101045938 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 56.39 cM, cytoband F1
  • Mapping Data
    20 experiments
Strain
Comparison
more
  • SNPs within 2kb
    698 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103169
protein coding gene Chr15:100869789-101045938 (.)
129S1/SvImJ MGP_129S1SvImJ_G0022362
protein coding gene Chr15:102871830-103069548 (+)
A/J MGP_AJ_G0022324
protein coding gene Chr15:98816271-99010187 (+)
AKR/J MGP_AKRJ_G0022300
protein coding gene Chr15:101835812-102019200 (+)
BALB/cJ MGP_BALBcJ_G0022328
protein coding gene Chr15:98923031-99104255 (+)
C3H/HeJ MGP_C3HHeJ_G0022098
protein coding gene Chr15:101922871-102110588 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022776
protein coding gene Chr15:106724958-106918340 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020301
protein coding gene Chr15:94560447-94735922 (+)
CAST/EiJ MGP_CASTEiJ_G0021623
protein coding gene Chr15:102760670-102950012 (+)
CBA/J MGP_CBAJ_G0022067
protein coding gene Chr15:110395011-110605299 (+)
DBA/2J MGP_DBA2J_G0022194
protein coding gene Chr15:98161256-98338542 (+)
FVB/NJ MGP_FVBNJ_G0022173
protein coding gene Chr15:97202470-97381775 (+)
LP/J MGP_LPJ_G0022265
protein coding gene Chr15:103018426-103211505 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022194
protein coding gene Chr15:114105436-114325012 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022790
protein coding gene Chr15:101836774-102037877 (+)
PWK/PhJ MGP_PWKPhJ_G0021362
protein coding gene Chr15:98302573-98486786 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021194
protein coding gene Chr15:101742477-101938135 (+)
WSB/EiJ MGP_WSBEiJ_G0021673
protein coding gene Chr15:102466402-102656482 (+)



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
    UniProt: Q9UQD0

  • Chr Location
    12q13.13; chr12:51589959-51812865 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Scn8a mouse models; 1 with human SCN8A associations

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    85 phenotypes from 21 alleles in 31 genetic backgrounds
    20 phenotypes from multigenic genotypes
    132 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000023033 Ensembl Gene Model | MGI Sequence Detail 176081 C57BL/6J ±  kb
    transcript ENSMUST00000108909 Ensembl | MGI Sequence Detail 11436 Not Applicable  
    polypeptide ENSMUSP00000104537 Ensembl | MGI Sequence Detail 1988 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 53
      Genomic 4
      cDNA 43
      Primer pair 4
      Other 2

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-12187, MGD-MRK-24035, MGI:2146092, MGI:2152446, MGI:2183468, MGI:2429910, MGI:2444216, MGI:2671467, MGI:3612947
    References
    more
    • Summaries
      All 207
      Developmental Gene Expression 12
      Diseases 4
      Gene Ontology 19
      Phenotypes 132
    • Earliest
      J:5153 Duchen LW, Hereditary motor end-plate disease in the mouse: light and electron microscopic studies. J Neurol Neurosurg Psychiatry. 1970 Apr;33(2):238-50
    • Latest
      J:265777 Katz E, et al., Role of sodium channel subtype in action potential generation by neocortical pyramidal neurons. Proc Natl Acad Sci U S A. 2018 Jul 24;115(30):E7184-E7192

    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
    11/13/2018
    MGI 6.13
    The Jackson Laboratory