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Scnn1a Gene Detail
Summary
  • Symbol
    Scnn1a
  • Name
    sodium channel, nonvoltage-gated 1 alpha
  • Synonyms
    ENaC alpha, mENaC, Scnn1
  • Feature Type
    protein coding gene
  • IDs
    MGI:101782
    NCBI Gene: 20276
  • Gene Overview
    MyGene.info: SCNN1A
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr6:125320659-125344943 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24285 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 59.32 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    SCNN1A, sodium channel epithelial 1 alpha subunit
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SCNN1A, sodium channel epithelial 1 alpha subunit
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BESC2, ENaCa, ENaCalpha, SCNEA, SCNN1
  • Links
    NCBI Gene ID: 6337
    neXtProt AC: NX_P37088
    UniProt: P37088

  • Chr Location
    12p13.31; chr12:6346843-6377357 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with human SCNN1A associations

Human Disease Mouse Models
      
IDs
View 1 model
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 4 alleles in 3 genetic backgrounds
    11 phenotypes from multigenic genotypes
    25 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for targeted null mutations exhibit skin with epithelial hyperplasia, abnormal nuclei, premature lipid secretion, and abnormal keratohyaline granules. Mutants die within 40 hours of birth due to inability to clear their lungs of liquid.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000038566 VEGA Gene Model | MGI Sequence Detail 24285 C57BL/6J ±  kb
    transcript OTTMUST00000099477 VEGA | MGI Sequence Detail 3499 Not Applicable  
    polypeptide OTTMUSP00000055834 VEGA | MGI Sequence Detail 700 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      135 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 37
      cDNA 35
      Primer pair 1
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-18590, MGD-MRK-18754
    References
    more
    • Summaries
      All 113
      Developmental Gene Expression 14
      Diseases 1
      Gene Ontology 8
      Phenotypes 25
    • Earliest
      J:21472 Meisler MH, et al., SCNN1, an epithelial cell sodium channel gene in the conserved linkage group on mouse chromosome 6 and human chromosome 12. Genomics. 1994 Nov 1;24(1):185-6
    • Latest
      J:250611 Tarjus A, et al., The endothelial alphaENaC contributes to vascular endothelial function in vivo. PLoS One. 2017;12(9):e0185319

    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
    09/18/2018
    MGI 6.12
    The Jackson Laboratory