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

Gene Tree: Scnn1a

Human homologs

Human Homolog		SCNN1A, sodium channel, non-voltage-gated 1 alpha subunit
NCBI Gene ID		6337
neXtProt AC		NX_P37088
Human Synonyms		BESC2, ENaCa, ENaCalpha, SCNEA, SCNN1
Human Chr (Location)		12p13; chr12:6456009-6486523 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human SCNN1A

Alleles and phenotypes

All alleles(5) : Targeted(5)
 

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

All GO classifications: (26 annotations)

Process	ion transport, regulation of body fluid levels, ...
Component	apical plasma membrane, cortical actin cytoskeleton, ...
Function	actin binding, ligand-gated sodium channel activity, ...

External Resources: FuncBase

Expression

Literature Summary: (9 records)
Data Summary: Results (66)    Tissues (18)   
Theiler Stages: 23, 24, 25, 26, 28

Assay Type	Results
Northern blot	33
RT-PCR	3
RNase protection	30

cDNA source data(33)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(37) cDNA(35) 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	TC1584672, TC1605046
DoTS	DT.110494040, DT.55149736
NIA Mouse Gene Index	U007418
Consensus CDS Project	CCDS39641.2
International Mouse Knockout Project Status	Scnn1a

Sequences

Length	Strain/Species
genomic	OTTMUSG00000038566	VEGA Gene Model | MGI Sequence Detail	24285	C57BL/6J
transcript	OTTMUST00000099477	VEGA | MGI Sequence Detail	3499	Not Applicable
polypeptide	OTTMUSP00000055834	VEGA | MGI Sequence Detail	700	Not Applicable

All sequences(56) RefSeq(2) UniProt(8)

Polymorphisms

RFLP(4) : SNPs(107 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:188121 Szabo R, et al., Reduced Prostasin (CAP1/PRSS8) Activity Eliminates HAI-1 and HAI-2 Deficiency-Associated Developmental Defects by Preventing Matriptase Activation. PLoS Genet. 2012 Aug;8(8):e1002937
All references(83)

Other accession IDs

MGD-MRK-18590, MGD-MRK-18754