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Scnn1a
Gene Detail
Symbol

Name
ID
Scnn1a
sodium channel, nonvoltage-gated 1 alpha
MGI:101782
Synonyms
ENaC alpha, mENaC, Scnn1
Feature Type
protein coding gene
Genetic Map
Chromosome 6
59.32 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr6:125320659-125344943 bp, + strand
From VEGA annotation of GRCm38

  24285 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:811  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

HCOP human homology predictions: SCNN1A
Gene Tree: Scnn1a

Human
homologs
SCNN1A, sodium channel, non voltage gated 1 alpha subunit
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 6337
neXtProt AC: NX_P37088

Human Synonyms: BESC2, ENaCa, ENaCalpha, SCNEA, SCNN1

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

Disease Associations: (2) Diseases Associated with Human SCNN1A

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Targeted(5) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Mutations Annotated to Human Diseases (2)   
Interactions
Scnn1a interacts with 226 markers (Mir1a-2, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (36 annotations)
Process ion transport, multicellular organismal water homeostasis, ...
Component apical plasma membrane, cell projection, ...
Function actin binding, ligand-gated sodium channel activity, ...
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (66)    Tissues (22)    Images (4)    Tissue x Stage Matrix (view)
Assay TypeResults
Northern blot 33
RT-PCR 3
RNase protection 30
cDNA source data(32)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase scnn1a    NEW 
Molecular
reagents
All nucleic(36) cDNA(34) Primer pair(1) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000038566 (Evidence)
Ensembl Gene Model ENSMUSG00000030340 (Evidence)
Entrez Gene 20276 (Evidence)
UniGene 144114
DFCI TC1605046, TC1584672
DoTS DT.110494040, DT.55149736
NIA Mouse Gene Index U007418
Consensus CDS Project CCDS39641.2
International Mouse Phenotyping Consortium Status Scnn1a
Sequences
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 sequences
All sequences(56) RefSeq(2) UniProt(8)
Polymorphisms
RFLP(4) : SNPs within 2kb(135 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004724 Epithelial sodium channel
InterPro IPR001873 Na+ channel, amiloride-sensitive
InterPro IPR020903 Na+ channel, amiloride-sensitive, conserved site
Protein Ontology PR:000014527 amiloride-sensitive sodium channel subunit alpha
References
(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:200823 Li X, et al., Endolymphatic Na(+) and K(+) concentrations during cochlear growth and enlargement in mice lacking Slc26a4/pendrin. PLoS One. 2013;8(5):e65977
All references(86)
Other
accession IDs
MGD-MRK-18590, MGD-MRK-18754

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
07/21/2015
MGI 5.22
The Jackson Laboratory