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Scn4a
Gene Detail
Symbol

Name
ID
Scn4a
sodium channel, voltage-gated, type IV, alpha
MGI:98250
Synonyms
mH2, Nav1.4, SkM1
Feature Type
protein coding gene
Genetic Map
Chromosome 11
68.91 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr11:106318592-106353288 bp, - strand
From VEGA annotation of GRCm38

  34697 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:283  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: voltage-gated sodium channel
Gene Tree: Scn4a

Human
homologs
Human Homolog SCN4A, sodium channel, voltage-gated, type IV, alpha subunit
NCBI Gene ID 6329
neXtProt AC  NX_P35499
Human Synonyms  HOKPP2, HYKPP, HYPP, NAC1A, Nav1.4, Na(V)1.4, SkM1
Human Chr (Location)  17q23.3; chr17:63938554-63989511 (-)  GRCh38
Disease Associations  (6) Diseases Associated with Human SCN4A
Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Targeted(9)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Scn4a (2)    Alleles Annotated to Human Diseases(3)   
Interactions
Scn4a interacts with 151 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (22 annotations)
Process cation transport, choline transport, ...
Component integral component of membrane, membrane, ...
Function ion channel activity, sodium channel activity, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (13)    Tissues (7)    Tissue x Stage Matrix (view)
Assay TypeResults
RT-PCR 13
cDNA source data(6)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(12) Genomic(2) cDNA(7) Primer pair(3)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000003417 (Evidence)
Ensembl Gene ModelENSMUSG00000001027 (Evidence)
Entrez Gene110880 (Evidence)
UniGene432528
DFCITC1592373
DoTSDT.91333233
NIA Mouse Gene IndexU033542
Consensus CDS ProjectCCDS48961.1
International Mouse Knockout Project StatusScn4a
Sequences
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 sequences
All sequences(26) RefSeq(6) UniProt(5)
Polymorphisms
RFLP(4) : SNPs within 2kb(253 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR005821 Ion transport domain
InterPro IPR000048 IQ motif, EF-hand binding site
InterPro IPR010526 Sodium ion transport-associated
InterPro IPR003091 Voltage-dependent potassium channel
InterPro IPR027359 Voltage-dependent potassium channel, four helix bundle domain
InterPro IPR008052 Voltage gated sodium channel, alpha-4 subunit
InterPro IPR001696 Voltage gated sodium channel, alpha subunit
Protein Ontology PR:000002100 sodium channel protein type 4 subunit alpha
References
(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:178228 Wu F, et al., A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis. J Clin Invest. 2011 Oct 3;121(10):4082-94
All references(44)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-14323

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory