SCNN1D (sodium channel epithelial 1 subunit delta)

2003-05-01  

Identity

HGNC
LOCATION
1p36.33
LOCUSID
ALIAS
ENaCd,ENaCdelta,SCNED,dNaCh

Other Information

Locus ID:

NCBI: 6339
MIM: 601328
HGNC: 10601
Ensembl: ENSG00000162572

Variants:

dbSNP: 6339
ClinVar: 6339
TCGA: ENSG00000162572
COSMIC: SCNN1D

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162572ENST00000325425P51172
ENSG00000162572ENST00000338555P51172
ENSG00000162572ENST00000379099H0Y3F1
ENSG00000162572ENST00000379101F8VWH5
ENSG00000162572ENST00000379116P51172
ENSG00000162572ENST00000400928P51172
ENSG00000162572ENST00000470022C9JDY8

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
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

References

Pubmed IDYearTitleCitations
361937392022Rare Variants in Genes Encoding Subunits of the Epithelial Na(+) Channel Are Associated With Blood Pressure and Kidney Function.10
361937392022Rare Variants in Genes Encoding Subunits of the Epithelial Na(+) Channel Are Associated With Blood Pressure and Kidney Function.10
336733812021CRISPR/Cas9 Mediated Knock Down of δ-ENaC Blunted the TNF-Induced Activation of ENaC in A549 Cells.6
336733812021CRISPR/Cas9 Mediated Knock Down of δ-ENaC Blunted the TNF-Induced Activation of ENaC in A549 Cells.6
317543872019Proliferative regulation of alveolar epithelial type 2 progenitor cells by human Scnn1d gene.10
317543872019Proliferative regulation of alveolar epithelial type 2 progenitor cells by human Scnn1d gene.10
279410752017δβγ-ENaC is inhibited by CFTR but stimulated by cAMP in Xenopus laevis oocytes.6
287084222017The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations.18
279410752017δβγ-ENaC is inhibited by CFTR but stimulated by cAMP in Xenopus laevis oocytes.6
287084222017The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations.18
256776392015Expression and function of the epithelial sodium channel δ-subunit in human respiratory epithelial cells in vitro.3
256776392015Expression and function of the epithelial sodium channel δ-subunit in human respiratory epithelial cells in vitro.3
221590852012Differential N termini in epithelial Na+ channel δ-subunit isoforms modulate channel trafficking to the membrane.11
225056672012Characterization of a novel splice variant of δ ENaC subunit in human lungs.12
221590852012Differential N termini in epithelial Na+ channel δ-subunit isoforms modulate channel trafficking to the membrane.11

Citation

Dessen P

SCNN1D (sodium channel epithelial 1 subunit delta)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42216/scnn1d