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Scn5a Gene Detail
Summary
  • Symbol
    Scn5a
  • Name
    sodium channel, voltage-gated, type V, alpha
  • Synonyms
    mH1, Nav1.5, Nav1.5c, SkM2
  • Feature Type
    protein coding gene
  • IDs
    MGI:98251
    NCBI Gene: 20271
  • Gene Overview
    MyGene.info: SCN5A
Location & Maps
more
  • Sequence Map
    Chr9:119483410-119579016 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      95607 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 71.33 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SCN5A, sodium voltage-gated channel alpha subunit 5
  • Vertebrate Orthologs
    11
  • Human Ortholog
    SCN5A, sodium voltage-gated channel alpha subunit 5
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1
  • Links
    NCBI Gene ID: 6331
    neXtProt AC: NX_Q14524

  • Chr Location
    3p21; chr3:38548058-38649673 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    4 with Scn5a mouse models; 8 with human SCN5A associations

Human Disease Mouse Models
       Brugada Syndrome 1; BRGDA1   OMIM: 601144 View 2 models
Long QT Syndrome 3; LQT3   OMIM: 603830 View 3 models
Progressive Familial Heart Block, Type IA; PFHB1A   OMIM: 113900 View 2 models
       Cardiac Arrhythmia   OMIM: 115000 View 1 model
       Atrial Fibrillation, Familial, 10; ATFB10   OMIM: 614022
Cardiomyopathy, Dilated, 1E; CMD1E   OMIM: 601154
Sick Sinus Syndrome 1, Autosomal Recessive; SSS1   OMIM: 608567
Sudden Infant Death Syndrome   OMIM: 272120
Ventricular Fibrillation, Paroxysmal Familial, 1; VF1   OMIM: 603829
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    9 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    42 phenotypes from 9 alleles in 8 genetic backgrounds
    1 images
    37 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    1300 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    10 Sequences
  • InterPro Domains
    IPR005821 Ion transport domain
    IPR010526 Sodium ion transport-associated
    IPR027359 Voltage-dependent channel, four helix bundle domain
    IPR024583 Voltage-gated Na+ ion channel, cytoplasmic domain
    IPR008053 Voltage gated sodium channel, alpha-5 subunit
    IPR001696 Voltage gated sodium channel, alpha subunit
Molecular
Reagents
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  • All nucleic 22
    cDNA 16
    Primer pair 6

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-14324
References
more
  • Summaries
    All 92
    Developmental Gene Expression 16
    Diseases 9
    Gene Ontology 21
    Phenotypes 37
  • 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:231297 Furtado MB, et al., A novel conditional mouse model for Nkx2-5 reveals transcriptional regulation of cardiac ion channels. Differentiation. 2016 Jan-Mar;91(1-3):29-41

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory