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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

HCOP human homology predictions: SCN5A
Protein SuperFamily: voltage-gated sodium channel
Gene Tree: Scn5a

Human
homologs
SCN5A, sodium channel, voltage gated, type V alpha subunit
Orthology source: HomoloGene, HGNC

IDs:
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; chr3:38548058-38649673 (-)  GRCh38.p2

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 , CvDC )
 
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 in Mice Using Scn5a (4)    Mutations 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: (96 annotations)
Process AV node cell action potential, AV node cell to bundle of His cell communication, ...
Component caveola, cell surface, ...
Function ankyrin binding, calmodulin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (15 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase scn5a    NEW 
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 Phenotyping Consortium Status Scn5a
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:220782 Schroder EA, et al., Light phase-restricted feeding slows basal heart rate to exaggerate the type-3 long QT syndrome phenotype in mice. Am J Physiol Heart Circ Physiol. 2014 Dec 15;307(12):H1777-85
All references(91)
Disease annotation references (9)
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
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory