SCNN1A (sodium channel epithelial 1 subunit alpha)

2007-02-01  

Identity

HGNC
LOCATION
12p13.31
LOCUSID
ALIAS
BESC2,ENaCa,ENaCalpha,LIDLS3,SCNEA,SCNN1
FUSION GENES

Other Information

Locus ID:

NCBI: 6337
MIM: 600228
HGNC: 10599
Ensembl: ENSG00000111319

Variants:

dbSNP: 6337
ClinVar: 6337
TCGA: ENSG00000111319
COSMIC: SCNN1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111319ENST00000228916P37088
ENSG00000111319ENST00000338748C5HTZ1
ENSG00000111319ENST00000360168P37088
ENSG00000111319ENST00000396966J3KPV6
ENSG00000111319ENST00000536788F5H5F8
ENSG00000111319ENST00000540037F5GXE6
ENSG00000111319ENST00000543768P37088

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Taste transductionKEGGko04742
Taste transductionKEGGhsa04742
Aldosterone-regulated sodium reabsorptionKEGGko04960
Aldosterone-regulated sodium reabsorptionKEGGhsa04960
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA134875400WNK4GenePathwayassociated23788015
PA31534NEDD4LGenePathwayassociated23788015
PA33782WNK1GenePathwayassociated23788015
PA448368amilorideChemicalPathwayassociated23788015
PA451752triamtereneChemicalPathwayassociated23788015

References

Pubmed IDYearTitleCitations
117564322002Regulation of the epithelial sodium channel by serine proteases in human airways.90
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
240437762013Molecular basis for pH-dependent mucosal dehydration in cystic fibrosis airways.81
195416052009SPLUNC1 regulates airway surface liquid volume by protecting ENaC from proteolytic cleavage.75
157557252005Interleukin-1beta decreases expression of the epithelial sodium channel alpha-subunit in alveolar epithelial cells via a p38 MAPK-dependent signaling pathway.74
153283452004cAMP and serum and glucocorticoid-inducible kinase (SGK) regulate the epithelial Na(+) channel through convergent phosphorylation of Nedd4-2.72
195610782009Knockdown of ASIC1 and epithelial sodium channel subunits inhibits glioblastoma whole cell current and cell migration.48
189906922009Extracellular protons regulate human ENaC by modulating Na+ self-inhibition.44
164238242006Delta-subunit confers novel biophysical features to alpha beta gamma-human epithelial sodium channel (ENaC) via a physical interaction.43
196173522009Rescue of DeltaF508-CFTR by the SGK1/Nedd4-2 signaling pathway.41

Citation

Dessen P

SCNN1A (sodium channel epithelial 1 subunit alpha)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45544/scnn1a