Identity
HGNC
LOCATION
16p12.2
LOCUSID
ALIAS
BESC3,ENaCg,ENaCgamma,LDLS2,PHA1,SCNEG
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: 6340
MIM: 600761
HGNC: 10602
Ensembl: ENSG00000166828
Variants:
dbSNP: 6340
ClinVar: 6340
TCGA: ENSG00000166828
COSMIC: SCNN1G
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000166828 | ENST00000300061 | P51170 |
| ENSG00000166828 | ENST00000300061 | A5X2V1 |
Expression (GTEx)
Pathways
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 |
|---|---|---|---|
| 36327816 | 2022 | Aberrant inactivation of SCNN1G promotes the motility of head and neck squamous cell carcinoma. | 1 |
| 36327816 | 2022 | Aberrant inactivation of SCNN1G promotes the motility of head and neck squamous cell carcinoma. | 1 |
| 33916525 | 2021 | DNA Methylation Patterns Correlate with the Expression of SCNN1A, SCNN1B, and SCNN1G (Epithelial Sodium Channel, ENaC) Genes. | 9 |
| 34755678 | 2021 | γENaC/CD9 in urinary extracellular vesicles as a potential biomarker of MR activity. | 2 |
| 33916525 | 2021 | DNA Methylation Patterns Correlate with the Expression of SCNN1A, SCNN1B, and SCNN1G (Epithelial Sodium Channel, ENaC) Genes. | 9 |
| 34755678 | 2021 | γENaC/CD9 in urinary extracellular vesicles as a potential biomarker of MR activity. | 2 |
| 31936044 | 2020 | Campylobacter concisus Impairs Sodium Absorption in Colonic Epithelium via ENaC Dysfunction and Claudin-8 Disruption. | 12 |
| 32161960 | 2020 | Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension. | 5 |
| 32341072 | 2020 | Phosphatidylinositol 4,5-bisphosphate directly interacts with the β and γ subunits of the sodium channel ENaC. | 12 |
| 31936044 | 2020 | Campylobacter concisus Impairs Sodium Absorption in Colonic Epithelium via ENaC Dysfunction and Claudin-8 Disruption. | 12 |
| 32161960 | 2020 | Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension. | 5 |
| 32341072 | 2020 | Phosphatidylinositol 4,5-bisphosphate directly interacts with the β and γ subunits of the sodium channel ENaC. | 12 |
| 31655555 | 2019 | Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report. | 3 |
| 31655555 | 2019 | Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report. | 3 |
| 29036630 | 2018 | Resequencing Epithelial Sodium Channel Genes Identifies Rare Variants Associated With Blood Pressure Salt-Sensitivity: The GenSalt Study. | 19 |
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-(sodium-channel-epithelial-1-subunit-gamma)
