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Scn8a Gene Detail
Summary
  • Symbol
    Scn8a
  • Name
    sodium channel, voltage-gated, type VIII, alpha
  • Synonyms
    ataxia 3, C630029C19Rik, med, mnd-2, mnd2, motor end-plate disease, NaCh6, Nav1.6, nmf2, nmf335, NMF335, nmf58, nur14, seal
  • Feature Type
    protein coding gene
  • IDs
    MGI:103169
    NCBI Gene: 20273
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:100767739-100943819 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 56.39 cM, cytoband F1
  • Mapping Data
    20 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3847 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103169
 protein coding gene Chr15:100766600-100943819 (+)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SCN8A, sodium voltage-gated channel alpha subunit 8
  • Synonyms
    BFIS5, CERIII, CIAT, DEE13, EIEE13, MED, MYOCL2, NaCh6, Nav1.6, PN4
  • Links
    NCBI Gene ID: 6334
    neXtProt AC: NX_Q9UQD0
    UniProt: Q9UQD0

  • Chr Location
    12q13.13; chr12:51590266-51812864 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Scn8a mouse models; 2 with human SCN8A associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
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
    87 phenotypes from 22 alleles in 32 genetic backgrounds
    27 phenotypes from multigenic genotypes
    161 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.
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
less
  • All GO Annotations
    50
  • GO References
    20
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    819
  • Tissues
    36
  • cDNA Data
    43
  • Literature Summary
    16
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
    • UniProt
      11 Sequences
    • Protein Ontology
      PR:000002103 sodium channel protein type 8 subunit alpha
      (term hierarchy)
    • PDB
      3WFN
    • InterPro Domains
      IPR005821 Ion transport domain
      IPR000048 IQ motif, EF-hand binding site
      IPR010526 Sodium ion transport-associated domain
      IPR027359 Voltage-dependent channel domain superfamily
      IPR043203 Voltage-gated cation channel calcium and sodium
      IPR024583 Voltage-gated Na+ ion channel, cytoplasmic domain
      IPR008054 Voltage gated sodium channel, alpha-8 subunit
      IPR001696 Voltage gated sodium channel, alpha subunit
      IPR044564 Voltage-gated sodium channel alpha subunit, inactivation gate
    • GlyGen
      Q9WTU3 9 sites, 2 N-linked glycans (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 54
      Genomic 4
      cDNA 43
      Primer pair 5
      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 250
      Developmental Gene Expression 16
      Diseases 4
      Gene Ontology 20
      Phenotypes 161
    • 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:353429 Yu W, et al., Dentate gyrus granule cells are a locus of pathology in Scn8a developmental encephalopathy. Neurobiol Dis. 2024 Sep;199:106591
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory