Scn5a
Gene Detail

Symbol Name ID

Scn5a sodium channel, voltage-gated, type V, alpha MGI:98251

Synonyms

mH1, Nav1.5, Nav1.5c, SkM2

Feature Type

protein coding gene

Genetic Map

Chromosome 9

71.33 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr9:119483410-119579016 bp, - strand From VEGA annotation of GRCm38   95607 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:22738  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 2 zebrafish

Protein SuperFamily: voltage-gated sodium channel
Gene Tree: Scn5a

Human homologs

Human Homolog		SCN5A, sodium channel, voltage-gated, type V, alpha subunit
NCBI Gene ID		6331
neXtProt AC		NX_Q14524
Human Synonyms		CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1
Human Chr (Location)		3p21; chr3:38589553-38691164 (-)  GRCh37.p10
Disease Associations		(8) Diseases Associated with Human SCN5A

Alleles and phenotypes

All alleles(13) : Targeted(11) Gene trapped(2)
 

Mice homozygous for mutations in this gene die prenatally usually during organogenesis and may display decreased embryo size and abnormal cardiovascular system physiology. Heterozygous mice typically display abnormal heartbeats and defects in the function of the impulse conduction system.

 
Human Diseases Modeled Using Mouse Scn5a (4)    Alleles Annotated to Human Diseases(3)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (76 annotations)

Process	AV node cell to bundle of His cell communication, bundle of His cell to Purkinje myocyte communication, ...
Component	cell surface, endoplasmic reticulum, ...
Function	ankyrin binding, calmodulin binding, ...

External Resources: FuncBase

Expression

Literature Summary: (13 records)
Data Summary: Results (250)    Tissues (44)    Images (25)
Theiler Stages: 23, 25, 28

Assay Type	Results
RNA in situ	217
RT-PCR	33

cDNA source data(14)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(22) cDNA(16) Primer pair(6)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000031832 (Evidence)
Ensembl Gene Model	ENSMUSG00000032511 (Evidence)
Entrez Gene	20271 (Evidence)
UniGene	103584
DFCI	TC1580178, TC1766271
DoTS	DT.94251443
NIA Mouse Gene Index	U031429
Consensus CDS Project	CCDS52965.1, CCDS57715.1
International Mouse Knockout Project Status	Scn5a

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031832	VEGA Gene Model | MGI Sequence Detail	95607	C57BL/6J
transcript	OTTMUST00000078927	VEGA | MGI Sequence Detail	8453	Not Applicable
polypeptide	OTTMUSP00000042030	VEGA | MGI Sequence Detail	2020	Not Applicable

All sequences(42) RefSeq(4) UniProt(6)

Polymorphisms

RFLP(2) : SNPs(726 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR024583	Domain of unknown function DUF3451
InterPro	IPR005821	Ion transport domain
InterPro	IPR000048	IQ motif, EF-hand binding site
InterPro	IPR010526	Sodium ion transport-associated
InterPro	IPR008053	Voltage gated sodium channel, alpha-5 subunit
InterPro	IPR001696	Voltage gated sodium channel, alpha subunit
Protein Ontology	PR:000002101	sodium channel type 5 subunit alpha

References

(Earliest) J:2513 Klocke R, et al., Chromosomal mapping of muscle-expressed sodium channel genes in the mouse. Mouse Genome. 1992;90(3):433-35
(Latest) J:190769 van den Boogaard M, et al., Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer. J Clin Invest. 2012 Jul 2;122(7):2519-30
All references(83)

Other accession IDs

MGD-MRK-14324