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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

HCOP human homology predictions: SCN4A
Protein SuperFamily: voltage-gated sodium channel
Gene Tree: Scn4a

Human
homologs
SCN4A, sodium channel, voltage gated, type IV alpha subunit
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 6329
neXtProt AC: NX_P35499

Human Synonyms: CMS16, HOKPP2, HYKPP, HYPP, NAC1A, Nav1.4, Na(V)1.4, SkM1

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

Disease Associations: (6) Diseases Associated with Human SCN4A

Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Chemically induced (ENU)(1) Targeted(9)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Scn4a (2)    Mutations 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase scn4a ; ZFIN scn4aa, scn4ab    NEW 
Molecular
reagents
All nucleic(12) Genomic(2) cDNA(7) Primer pair(3)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000003417 (Evidence)
Ensembl Gene Model ENSMUSG00000001027 (Evidence)
Entrez Gene 110880 (Evidence)
UniGene 432528
DFCI TC1592373
DoTS DT.91333233
NIA Mouse Gene Index U033542
Consensus CDS Project CCDS48961.1
International Mouse Phenotyping Consortium Status Scn4a
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(24) RefSeq(6) UniProt(3)
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 IPR003091 Potassium channel
InterPro IPR010526 Sodium ion transport-associated
InterPro IPR027359 Voltage-dependent channel, four helix bundle domain
InterPro IPR028826 Voltage gated sodium channel, alpha-4 subunit
InterPro IPR008052 Voltage gated sodium channel, alpha-4 subunit, mammalian
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:217522 Corrochano S, et al., Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis. Brain. 2014 Dec;137(Pt 12):3171-85
All references(46)
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
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory