Identity
HGNC
LOCATION
12p13.31
LOCUSID
ALIAS
BESC2,ENaCa,ENaCalpha,LIDLS3,SCNEA,SCNN1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6337
MIM: 600228
HGNC: 10599
Ensembl: ENSG00000111319
Variants:
dbSNP: 6337
ClinVar: 6337
TCGA: ENSG00000111319
COSMIC: SCNN1A
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA134875400 | WNK4 | Gene | Pathway | associated | 23788015 | ||
| PA31534 | NEDD4L | Gene | Pathway | associated | 23788015 | ||
| PA33782 | WNK1 | Gene | Pathway | associated | 23788015 | ||
| PA448368 | amiloride | Chemical | Pathway | associated | 23788015 | ||
| PA451752 | triamterene | Chemical | Pathway | associated | 23788015 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37134141 | 2023 | A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene. | 0 |
| 37280474 | 2023 | Activation of SGK1/ENaC Signaling Pathway Improves the Level of Decidualization in Unexplained Recurrent Spontaneous Abortion. | 2 |
| 37843257 | 2023 | Association between low-sodium salt intervention and long-term blood pressure changes is modified by ENaC genetic variation: a gene-diet interaction analysis in a randomized controlled trial. | 1 |
| 37134141 | 2023 | A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene. | 0 |
| 37280474 | 2023 | Activation of SGK1/ENaC Signaling Pathway Improves the Level of Decidualization in Unexplained Recurrent Spontaneous Abortion. | 2 |
| 37843257 | 2023 | Association between low-sodium salt intervention and long-term blood pressure changes is modified by ENaC genetic variation: a gene-diet interaction analysis in a randomized controlled trial. | 1 |
| 35714697 | 2022 | Sodium channel 1 subunit alpha SCNN1A exerts oncogenic function in pancreatic cancer via accelerating cellular growth and metastasis. | 1 |
| 36193739 | 2022 | Rare Variants in Genes Encoding Subunits of the Epithelial Na(+) Channel Are Associated With Blood Pressure and Kidney Function. | 10 |
| 35714697 | 2022 | Sodium channel 1 subunit alpha SCNN1A exerts oncogenic function in pancreatic cancer via accelerating cellular growth and metastasis. | 1 |
| 36193739 | 2022 | Rare Variants in Genes Encoding Subunits of the Epithelial Na(+) Channel Are Associated With Blood Pressure and Kidney Function. | 10 |
| 33486988 | 2021 | Epithelial Sodium Channel and Salt-Sensitive Hypertension. | 40 |
| 33630195 | 2021 | The epithelial sodium channel has a role in breast cancer cell proliferation. | 12 |
| 33916525 | 2021 | DNA Methylation Patterns Correlate with the Expression of SCNN1A, SCNN1B, and SCNN1G (Epithelial Sodium Channel, ENaC) Genes. | 9 |
| 34134742 | 2021 | Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town. | 17 |
| 34558641 | 2021 | HOXD9‑induced SCNN1A upregulation promotes pancreatic cancer cell proliferation, migration and predicts prognosis by regulating epithelial‑mesenchymal transformation. | 7 |
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-(sodium-channel-epithelial-1-subunit-alpha)
