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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    16 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:125297622-125321906 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 59.32 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    728 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_101782
 protein coding gene Chr6:125286657-125321906 (+)
129S1/SvImJ ENSMUSG00200045846
 protein coding gene Chr6:122359014-122383302 (+)
A/J ENSMUSG00195044472
 protein coding gene Chr6:121804627-121828870 (+)
AKR/J ENSMUSG00220030000
 protein coding gene Chr6:120666238-120690491 (+)
BALB/cJ ENSMUSG00180042653
 protein coding gene Chr6:122143296-122167545 (+)
C3H/HeJ ENSMUSG00175031084
 protein coding gene Chr6:121805080-121829322 (+)
C57BL/6NJ ENSMUSG00215044746
 protein coding gene Chr6:122122794-122147074 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028879
 protein coding gene Chr6:121018854-121043396 (+)
CAST/EiJ ENSTCUG00005049279
 protein coding gene Chr6:121997360-122021743 (+)
CBA/J ENSMUSG00210044328
 protein coding gene Chr6:121843672-121867913 (+)
DBA/2J ENSMUSG00185040732
 protein coding gene Chr6:122543283-122567524 (+)
FVB/NJ ENSMUSG00205028536
 protein coding gene Chr6:121258086-121282334 (+)
JF1/MsJ ENSUMUG00000035769
 protein coding gene Chr6:120960402-120984918 (+)
LP/J ENSMUSG00230042215
 protein coding gene Chr6:123740157-123764400 (+)
NOD/ShiLtJ ENSMUSG00190048482
 protein coding gene Chr6:121514862-121539105 (+)
NZO/HlLtJ ENSMUSG00225015206
 protein coding gene Chr6:125770914-125795191 (+)
PWK/PhJ ENSLUMG00010047210
 protein coding gene Chr6:120218902-120243456 (+)
SPRET/EiJ ENSMSPG00010036331
 protein coding gene Chr6:123070089-123094797 (+)
WSB/EiJ ENSIUOG00005035605
 protein coding gene Chr6:122229421-122253715 (+)



Homology
more
  • Human Ortholog
    SCNN1A, sodium channel epithelial 1 subunit alpha
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SCNN1A, sodium channel epithelial 1 subunit alpha
  • Synonyms
    BESC2, ENaCa, ENaCalpha, LIDLS3, PHA1B1, SCNEA, SCNN1
  • Links
    NCBI Gene ID: 6337
    UniProt: P37088

  • Chr Location
    12p13.31; chr12:6346843-6383917 (-)  GRCh38
Human Diseases
more
  • Diseases
    6 with human SCNN1A associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    17 phenotypes from 5 alleles in 4 genetic backgrounds
    11 phenotypes from multigenic genotypes
    39 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.
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
less
  • All GO Annotations
    112
  • GO References
    20
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    697
  • Tissues
    29
  • cDNA Data
    33
  • Literature Summary
    19
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000030340 Ensembl Gene Model | MGI Sequence Detail 24285 C57BL/6J ±  kb
    transcript ENSMUST00000081440 Ensembl | MGI Sequence Detail 3499 Not Applicable  
    polypeptide ENSMUSP00000080164 Ensembl | MGI Sequence Detail 699 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 40
      cDNA 35
      Primer pair 4
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-18590, MGD-MRK-18754
    References
    more
    • Summaries
      All 192
      Developmental Gene Expression 19
      Diseases 1
      Gene Ontology 20
      Phenotypes 39
    • 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:361882 Zhou Y, et al., Taurine is essential for mouse uterine luminal fluid resorption during implantation window via the SCNN1A and AQP8 signaling. Biol Reprod. 2025 Jan 14;112(1):140-155
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory