SCNN1G Gene
Sodium Channel Epithelial 1 Gamma Subunit
Gene Information Card
| Symbol | SCNN1G |
|---|---|
| Full Name | Sodium Channel Epithelial 1 Gamma Subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 16p12.2 |
| NCBI Gene ID | 6340 ncbi.nlm.nih.gov/gene/6340 |
| Ensembl ID | ENSG00000166828 |
| UniProt ID | P51170 |
| OMIM ID | 600761 |
| HGNC ID | 10602 |
| Aliases | ENaCgamma, SCNEG, SCNN1G, BESC3 |
Description
SCNN1G encodes the gamma subunit of the epithelial sodium channel (ENaC), a heterotrimeric channel composed of alpha, beta, and gamma subunits. ENaC mediates sodium reabsorption in the distal nephron, respiratory epithelium, and colon, playing a key role in electrolyte balance, blood pressure regulation, and airway surface liquid homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Liddle syndrome | Gain-of-function mutations in the C-terminus increase channel activity, leading to hypertension and hypokalemia. | OMIM #177200 |
| Pseudohypoaldosteronism type 1 (autosomal recessive) | Loss-of-function mutations reduce ENaC activity, causing salt wasting, hyperkalemia, and metabolic acidosis. | OMIM #264350 |
| Cystic fibrosis modifier | Variants in SCNN1G may influence lung disease severity by altering airway sodium absorption. | ClinVar, PMID: 12651894 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Lung | 8.3 | Low |
| Colon | 6.1 | Low |
| Salivary gland | 4.7 | Low |
| Skin | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A-549 (lung) | 5.2 | Low expression |
| Caco-2 (colon) | 3.8 | Low expression |
| HEK 293 (kidney) | 1.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1570C>T (p.Arg524*) | Nonsense | Rare | Loss-of-function; associated with pseudohypoaldosteronism type 1 |
| c.1439T>C (p.Leu480Pro) | Missense | Rare | Loss-of-function; reduces channel activity |
| c.1859C>T (p.Pro620Leu) | Missense | Rare | Gain-of-function; linked to Liddle syndrome |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that disrupt subunit assembly, trafficking, or channel gating, leading to reduced sodium reabsorption.
Gain of Function (GOF)
C-terminal truncations or missense mutations that impair internalization of ENaC, increasing channel density and activity.
Dominant Negative (DN)
Not well documented for SCNN1G; most Liddle syndrome mutations are dominant gain-of-function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Aldosterone-regulated sodium reabsorption (KEGG hsa04960)
• Epithelial sodium channel (ENaC) pathway (Reactome R-HSA-2672351)
Protein Summary
The gamma subunit (ENaCgamma) is a 649-amino-acid transmembrane protein with two transmembrane domains, a large extracellular loop, and intracellular N- and C-termini. It assembles with alpha and beta subunits to form the functional ENaC channel. The C-terminus contains a PY motif that interacts with NEDD4L, regulating channel endocytosis and degradation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCNN1G Knockout HEK293 Cell Line | EDJ-KQ5721 | Human | 6340 | Details Get a Quote |
| SCNN1G Knockout HeLa Cell Line | EDJ-KQ54408 | Human | 6340 | Details Get a Quote |
| SCNN1G Knockout A-549 Cell Line | EDJ-KQ62897 | Human | 6340 | Details Get a Quote |
| SCNN1G Knockout HCT 116 Cell Line | EDJ-KQ71364 | Human | 6340 | Details Get a Quote |
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