SCNN1A
Sodium Channel Epithelial 1 Alpha Subunit
Gene Information Card
| Symbol | SCNN1A |
|---|---|
| Full Name | Sodium Channel Epithelial 1 Alpha Subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 6337 ncbi.nlm.nih.gov/gene/6337 |
| Ensembl ID | ENSG00000111319 |
| UniProt ID | P37088 |
| OMIM ID | 600228 |
| HGNC ID | 10599 |
| Aliases | ENaCalpha, SCNEA, BESC1, ENaCa |
Description
SCNN1A encodes the alpha subunit of the epithelial sodium channel (ENaC), a heterotrimeric channel composed of alpha, beta, and gamma subunits. This channel mediates sodium reabsorption in epithelial tissues, regulating blood pressure, airway surface liquid volume, and electrolyte balance. Gain-of-function mutations cause Liddle syndrome (hypertension), while loss-of-function mutations cause pseudohypoaldosteronism type 1 (salt wasting).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Liddle syndrome | Gain-of-function mutations increase ENaC activity, leading to hypertension and hypokalemia | ClinVar, OMIM |
| Pseudohypoaldosteronism type 1 (PHA1) | Loss-of-function mutations reduce ENaC activity, causing salt wasting and hyperkalemia | ClinVar, OMIM |
| Cystic fibrosis | Altered ENaC regulation contributes to airway surface liquid dehydration | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Colon | 6.1 | Low |
| Skin | 3.2 | Low |
| Salivary gland | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung) | 15.2 | High expression |
| Caco-2 (colon) | 9.8 | Medium expression |
| HEK 293 (kidney) | 4.5 | Low expression |
| HaCaT (skin) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1439G>A (p.Arg480Lys) | Missense | <0.01% | Gain-of-function; Liddle syndrome |
| c.1685C>T (p.Thr562Met) | Missense | <0.01% | Loss-of-function; PHA1 |
| c.1471C>T (p.Arg491*) | Nonsense | <0.01% | Loss-of-function; PHA1 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations in SCNN1A reduce ENaC activity, causing pseudohypoaldosteronism type 1.
Gain of Function (GOF)
Missense mutations in the C-terminus increase ENaC open probability, causing Liddle syndrome.
Dominant Negative (DN)
Not reported for SCNN1A.
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 alpha subunit of ENaC is a 669-amino acid protein with two transmembrane domains, a large extracellular loop, and intracellular N- and C-termini. It forms the pore of the channel and is essential for channel assembly and function. The protein is cleaved by furin-like proteases for activation. Mutations in the C-terminus disrupt interaction with NEDD4L, leading to channel accumulation at the membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCNN1A Knockout HEK293 Cell Line | EDJ-KQ5724 | Human | 6337 | Details Get a Quote |
| SCNN1A Knockout A-549 Cell Line | EDJ-KQ29114 | Human | 6337 | Details Get a Quote |
| SCNN1A Knockout HeLa Cell Line | EDJ-KQ29116 | Human | 6337 | Details Get a Quote |
| SCNN1A Knockout HCT 116 Cell Line | EDJ-KQ27857 | Human | 6337 | Details Get a Quote |
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