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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; 1 western clawed frog; 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; chr3:38548062-38649673 (-)  GRCh38
Disease Associations  (8) Diseases Associated with Human SCN5A
Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Gene trapped(2) Targeted(11)
Incidental mutations (data from Mutagenetix , APF )
 
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(4)    Phenotype Images(1)
Interactions
Scn5a interacts with 271 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (83 annotations)
Process AV node cell to bundle of His cell communication, bundle of His cell to Purkinje myocyte communication, ...
Component caveola, cell surface, ...
Function ankyrin binding, calmodulin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (13 records)
Data Summary: Results (250)    Tissues (46)    Images (25)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 217
RT-PCR 33
cDNA source data(14)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(22) cDNA(16) Primer pair(6)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000031832 (Evidence)
Ensembl Gene ModelENSMUSG00000032511 (Evidence)
Entrez Gene20271 (Evidence)
UniGene103584
DFCITC1580178, TC1766271
DoTSDT.94251443
NIA Mouse Gene IndexU031429
Consensus CDS ProjectCCDS52965.1, CCDS57715.1
International Mouse Knockout Project StatusScn5a
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031832 VEGA Gene Model | MGI Sequence Detail 95607 C57BL/6J ±  kb
transcript OTTMUST00000078927 VEGA | MGI Sequence Detail 8453 Not Applicable 
polypeptide OTTMUSP00000042030 VEGA | MGI Sequence Detail 2020 Not Applicable 

For the selected sequences
All sequences(53) RefSeq(14) UniProt(7)
Polymorphisms
RFLP(2) : SNPs within 2kb(1302 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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 IPR027359 Voltage-dependent potassium channel, four helix bundle domain
InterPro IPR008053 Voltage gated sodium channel, alpha-5 subunit
InterPro IPR001696 Voltage gated sodium channel, alpha subunit
Protein Ontology PR:000002101 sodium channel protein 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:213263 Tran PV, et al., Downregulating Hedgehog Signaling Reduces Renal Cystogenic Potential of Mouse Models. J Am Soc Nephrol. 2014 Apr 3;
All references(88)
Disease annotation references (8)
Other
accession IDs
MGD-MRK-14324

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
10/08/2014
MGI 5.20
The Jackson Laboratory