SCNN1G (sodium channel epithelial 1 subunit gamma)

2014-06-01  

Identity

HGNC
LOCATION
16p12.2
LOCUSID
ALIAS
BESC3,ENaCg,ENaCgamma,LDLS2,PHA1,SCNEG
FUSION GENES

Other Information

Locus ID:

NCBI: 6340
MIM: 600761
HGNC: 10602
Ensembl: ENSG00000166828

Variants:

dbSNP: 6340
ClinVar: 6340
TCGA: ENSG00000166828
COSMIC: SCNN1G

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166828ENST00000300061P51170
ENSG00000166828ENST00000300061A5X2V1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA134875400WNK4GenePathwayassociated23788015
PA31534NEDD4LGenePathwayassociated23788015
PA33782WNK1GenePathwayassociated23788015
PA448368amilorideChemicalPathwayassociated23788015
PA451752triamtereneChemicalPathwayassociated23788015

References

Pubmed IDYearTitleCitations
171990782007Epithelial Na+ channels are fully activated by furin- and prostasin-dependent release of an inhibitory peptide from the gamma-subunit.154
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
190738252009Plasmin in nephrotic urine activates the epithelial sodium channel.80
189811802008Plasmin activates epithelial Na+ channels by cleaving the gamma subunit.79
153283452004cAMP and serum and glucocorticoid-inducible kinase (SGK) regulate the epithelial Na(+) channel through convergent phosphorylation of Nedd4-2.72
179983932007A segment of gamma ENaC mediates elastase activation of Na+ transport.51
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
184432362008Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population.41

Citation

Dessen P

SCNN1G (sodium channel epithelial 1 subunit gamma)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53976/scnn1g