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Scn4a Gene Detail
Summary
  • Symbol
    Scn4a
  • Name
    sodium channel, voltage-gated, type IV, alpha
  • Synonyms
    mH2, Nav1.4, SkM1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98250
    NCBI Gene: 110880
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:106209418-106244114 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 68.91 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    253 from dbSNP Build 142
  • Strain Annotations
    2
  • RFLP
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98250
 protein coding gene Chr11:106208374-106256385 (-)
129S1/SvImJ no annotation
A/J no annotation
AKR/J no annotation
BALB/cJ no annotation
C3H/HeJ no annotation
C57BL/6NJ no annotation
CAROLI/EiJ MGP_CAROLIEiJ_G0017321
 protein coding gene Chr11:102218272-102265165 (-)
CAST/EiJ no annotation
CBA/J no annotation
DBA/2J no annotation
FVB/NJ no annotation
LP/J no annotation
NOD/ShiLtJ no annotation
NZO/HlLtJ no annotation
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    SCN4A, sodium voltage-gated channel alpha subunit 4
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SCN4A, sodium voltage-gated channel alpha subunit 4
  • Synonyms
    CMS16, CMYP22A, HOKPP2, HYKPP, HYPP, NAC1A, Nav1.4, Na(V)1.4, SkM1
  • Links
    NCBI Gene ID: 6329
    neXtProt AC: NX_P35499
    UniProt: P35499

  • Chr Location
    17q23.3; chr17:63938554-63972918 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Scn4a mouse models; 5 with human SCN4A associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    37 phenotypes from 5 alleles in 6 genetic backgrounds
    18 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.
Mice heterozygous or homozygous for a knock-in allele develop myotonia, increased myofiber damage, K+-sensitive paralysis and susceptibility to delayed weakness during recovery from fatigue. Homozygotes show perinatal lethality, low survival rate, unusual hind-limb clasping and reduced body weight.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    23
  • GO References
    5
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
non-membrane-bounded 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
    720
  • Tissues
    8
  • cDNA Data
    7
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000001027 Ensembl Gene Model | MGI Sequence Detail 34697 C57BL/6J ±  kb
    transcript ENSMUST00000021056 Ensembl | MGI Sequence Detail 6598 Not Applicable  
    polypeptide ENSMUSP00000021056 Ensembl | MGI Sequence Detail 1841 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000002100 sodium channel protein type 4 subunit alpha
      (term hierarchy)
    • 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
      IPR008052 Voltage gated sodium channel, alpha-4 subunit, mammalian
      IPR001696 Voltage gated sodium channel, alpha subunit
      IPR044564 Voltage-gated sodium channel alpha subunit, inactivation gate
    Molecular
    Reagents
    less
    • All nucleic 13
      Genomic 2
      cDNA 8
      Primer pair 3

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-14323
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 5
      Phenotypes 18
    • Earliest
      J:897 Ambrose C, et al., The alpha-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse chromosome 11. Mamm Genome. 1992;3(3):151-5
    • Latest
      J:330864 DiFranco M, et al., Voltage-dependent Ca(2+) release is impaired in hypokalemic periodic paralysis caused by CaV1.1-R528H but not by NaV1.4-R669H. Am J Physiol Cell Physiol. 2022 Aug 1;323(2):C478-C485
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory