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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
  • Gene Overview
    MyGene.info: SCN4A
Location & Maps
more
  • Sequence Map
    Chr11:106318592-106353288 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      34697 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 68.91 cM
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    SCN4A, sodium voltage-gated channel alpha subunit 4
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SCN4A, sodium voltage-gated channel alpha subunit 4
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CMS16, HOKPP2, HYKPP, HYPP, NAC1A, Nav1.4, Na(V)1.4, SkM1
  • Links
    NCBI Gene ID: 6329
    neXtProt AC: NX_P35499

  • Chr Location
    17q23.3; chr17:63938554-63990150 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Scn4a mouse models; 6 with human SCN4A associations

Human Disease Mouse Models
       Hyperkalemic Periodic Paralysis; HYPP   OMIM: 170500 View 4 models
Hypokalemic Periodic Paralysis, Type 2; HOKPP2   OMIM: 613345 View 1 model
       Hypokalemic Periodic Paralysis, Type 1; HOKPP1   OMIM: 170400
Myasthenic Syndrome, Congenital, 16; CMS16   OMIM: 614198
Myotonia, Potassium-Aggravated   OMIM: 608390
Paramyotonia Congenita of Von Eulenburg; PMC   OMIM: 168300
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
    36 phenotypes from 5 alleles in 6 genetic backgrounds
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    10
  • Chemically induced (ENU)
    1
  • Targeted
    9
  • Incidental Mutations
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
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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 OTTMUSG00000003417 VEGA Gene Model | MGI Sequence Detail 34697 C57BL/6J ±  kb
transcript OTTMUST00000007190 VEGA | MGI Sequence Detail 6598 Not Applicable  
polypeptide OTTMUSP00000003451 VEGA | MGI Sequence Detail 1841 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    391 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000002100 sodium channel protein type 4 subunit alpha
  • 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
    IPR028325 Voltage-gated potassium channel
    IPR028826 Voltage gated sodium channel, alpha-4 subunit
    IPR008052 Voltage gated sodium channel, alpha-4 subunit, mammalian
    IPR001696 Voltage gated sodium channel, alpha subunit
Molecular
Reagents
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  • All nucleic 12
    Genomic 2
    cDNA 7
    Primer pair 3

    Microarray probesets 2
Other
Accession IDs
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MGD-MRK-14323
References
more
  • Summaries
    All 44
    Developmental Gene Expression 3
    Diseases 2
    Gene Ontology 5
    Phenotypes 13
  • 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:228563 Koscielny G, et al., The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Nucleic Acids Res. 2014 Jan;42(Database issue):D802-9

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
05/24/2016
MGI 6.04
The Jackson Laboratory