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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
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
Homology
more
  • Human Ortholog
    SCNN1A, sodium channel, non voltage gated 1 alpha subunit
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SCNN1A, sodium channel, non voltage gated 1 alpha subunit
    Orthology source: HomoloGene
  • Synonyms
    BESC2, ENaCa, ENaCalpha, SCNEA, SCNN1
  • Links
    NCBI Gene ID: 6337
    neXtProt AC: NX_P37088

  • Chr Location
    12p13; chr12:6346843-6377357 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human SCNN1A associations

Human Disease Mouse Models
       Bronchiectasis with or without Elevated Sweat Chloride 2; BESC2   OMIM: 613021
Pseudohypoaldosteronism, Type I, Autosomal Recessive; PHA1B   OMIM: 264350 View 1 model
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
    22 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Targeted
    5
  • Transgenic
    1
  • Incidental Mutations
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
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 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 137
  • RFLP
Protein
Information
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  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000014527 amiloride-sensitive sodium channel subunit alpha
  • InterPro Domains
    IPR004724 Epithelial sodium channel
    IPR001873 Na+ channel, amiloride-sensitive
    IPR020903 Na+ channel, amiloride-sensitive, conserved site
Molecular
Reagents
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  • All nucleic 36
    cDNA 34
    Primer pair 1
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-18590, MGD-MRK-18754
References
more
  • Summaries
    All 84
    Developmental Gene Expression 11
    Diseases 1
    Gene Ontology 8
    Phenotypes 22
  • 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:226737 Malsure S, et al., Colon-specific deletion of epithelial sodium channel causes sodium loss and aldosterone resistance. J Am Soc Nephrol. 2014 Jul;25(7):1453-64

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
02/02/2016
MGI 6.02
The Jackson Laboratory