SCNN1B (sodium channel epithelial 1 subunit beta)

2008-10-01  

Identity

HGNC
LOCATION
16p12.2
LOCUSID
ALIAS
BESC1,ENaCb,ENaCbeta,LIDLS1,SCNEB
FUSION GENES

Other Information

Locus ID:

NCBI: 6338
MIM: 600760
HGNC: 10600
Ensembl: ENSG00000168447

Variants:

dbSNP: 6338
ClinVar: 6338
TCGA: ENSG00000168447
COSMIC: SCNN1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168447ENST00000307331P51168
ENSG00000168447ENST00000343070P51168
ENSG00000168447ENST00000343070B2R812
ENSG00000168447ENST00000564275H3BUQ8
ENSG00000168447ENST00000566441A0A087WZI2
ENSG00000168447ENST00000568085H3BQ95
ENSG00000168447ENST00000568923H3BRM4

Expression (GTEx)

0
10
20
30
40
50
60
70
80

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
PA165815771FarglitazarChemicalClinicalAnnotationassociatedPD18004211
PA31534NEDD4LGenePathwayassociated23788015
PA33782WNK1GenePathwayassociated23788015
PA443890Diabetes Mellitus, Type 2DiseaseClinicalAnnotationassociatedPD18004211
PA448368amilorideChemicalPathwayassociated23788015
PA449782glibenclamideChemicalClinicalAnnotationassociatedPD18004211
PA451752triamtereneChemicalPathwayassociated23788015

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
153283452004cAMP and serum and glucocorticoid-inducible kinase (SGK) regulate the epithelial Na(+) channel through convergent phosphorylation of Nedd4-2.72
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
184432362008Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population.41
151881662004Cytokine-dependent transcriptional down-regulation of epithelial sodium channel in ulcerative colitis.34
201069882010Inhibition of lung fluid clearance and epithelial Na+ channels by chlorine, hypochlorous acid, and chloramines.28
215623412011Common variants in epithelial sodium channel genes contribute to salt sensitivity of blood pressure: The GenSalt study.25
193593702009Regulation of epithelial sodium channels by cGMP/PKGII.24
173814232007Epithelial sodium channel (ENaC) is multi-ubiquitinated at the cell surface.23

Citation

Dessen P

SCNN1B (sodium channel epithelial 1 subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/gene/50400/scnn1b