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; 2 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; chr17:62015914-62050278 (-)  GRCh37.p10
Disease Associations		(5) Diseases Associated with Human SCN4A

Alleles and phenotypes

All alleles(8) : Targeted(8)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (23 annotations)

Process	cation transport, choline transport, ...
Component	integral to membrane, membrane, ...
Function	ion channel activity, potassium channel activity, ...

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (13)    Tissues (5)   
Theiler Stages: 23, 25, 28

Assay Type	Results
RT-PCR	13

cDNA source data(6)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Scn4a

Sequences

Length	Strain/Species
genomic	OTTMUSG00000003417	VEGA Gene Model | MGI Sequence Detail	34697	C57BL/6J
transcript	OTTMUST00000007190	VEGA | MGI Sequence Detail	6598	Not Applicable
polypeptide	OTTMUSP00000003451	VEGA | MGI Sequence Detail	1841	Not Applicable

All sequences(20) RefSeq(2) UniProt(3)

Polymorphisms

RFLP(4) : SNPs(146 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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	IPR008052	Voltage gated sodium channel, alpha-4 subunit
InterPro	IPR001696	Voltage gated sodium channel, alpha subunit
Protein Ontology	PR:000032989	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(41)

Other accession IDs

MGD-MRK-14323