SCNN1B: Sodium Channel Epithelial 1 Beta Subunit
Key regulator of sodium transport in epithelial tissues, associated with Liddle syndrome and pseudohypoaldosteronism type 1
Gene Information Card
| Symbol | SCNN1B |
|---|---|
| Full Name | Sodium Channel Epithelial 1 Beta Subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 16p12.2 |
| NCBI Gene ID | 6338 ncbi.nlm.nih.gov/gene/6338 |
| Ensembl ID | ENSG00000168447 |
| UniProt ID | P51168 |
| OMIM ID | 600760 |
| HGNC ID | 10600 |
| Aliases | ENaCbeta, SCNEB, BETAENaC, ENaCb |
Description
The SCNN1B gene encodes the beta subunit of the epithelial sodium channel (ENaC), a heterotrimeric channel composed of alpha, beta, and gamma subunits. ENaC mediates the transport of sodium ions across apical membranes of epithelial cells in the kidney, lung, and colon, playing a critical role in sodium homeostasis, blood pressure regulation, and airway surface liquid volume. Mutations in SCNN1B cause Liddle syndrome (gain-of-function) and pseudohypoaldosteronism type 1 (loss-of-function).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Liddle syndrome | Gain-of-function mutations in the C-terminal PY motif increase ENaC activity, leading to hypertension, hypokalemia, and metabolic alkalosis. | ClinVar, OMIM |
| Pseudohypoaldosteronism type 1 (PHA1) | Loss-of-function mutations reduce ENaC activity, causing salt wasting, hyperkalemia, and metabolic acidosis. | ClinVar, OMIM |
| Cystic fibrosis | Altered ENaC function contributes to airway surface liquid dehydration; SCNN1B variants may modify disease severity. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Colon | 6.7 | Low |
| Salivary gland | 5.1 | Low |
| Prostate | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung) | 15.2 | High expression |
| Caco-2 (colon) | 9.8 | Medium expression |
| HEK 293 (kidney) | 7.4 | Medium expression |
| HPAEpiC (airway epithelial) | 11.6 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1859C>T (p.Pro620Leu) | Missense | <0.01% | Gain-of-function; associated with Liddle syndrome |
| c.2218C>T (p.Arg740*) | Nonsense | <0.01% | Loss-of-function; associated with PHA1 |
| c.1685_1686del (p.Leu562Argfs*27) | Frameshift | <0.01% | Loss-of-function; associated with PHA1 |
Mutation functional classification
Loss of Function (LOF)
Mutations that truncate or disrupt the C-terminal PY motif or channel assembly reduce ENaC activity, causing pseudohypoaldosteronism type 1.
Gain of Function (GOF)
Mutations in the C-terminal PY motif (e.g., Pro620Leu) impair NEDD4-2-mediated ubiquitination, increasing surface expression and activity, leading to Liddle syndrome.
Dominant Negative (DN)
Not commonly reported for SCNN1B; most pathogenic mutations are either loss- or gain-of-function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Epithelial sodium channel (ENaC) pathway
• Aldosterone-regulated sodium reabsorption
• Sodium transport in kidney collecting duct
Protein Summary
The beta subunit of the epithelial sodium channel (ENaC) is a 640-amino acid protein with two transmembrane domains, a large extracellular loop, and intracellular N- and C-termini. The C-terminal PY motif (PPxY) is critical for interaction with NEDD4-2 ubiquitin ligase, regulating channel turnover. The beta subunit co-assembles with alpha and gamma subunits to form a functional amiloride-sensitive sodium channel. Mutations in the PY motif cause Liddle syndrome, while truncating mutations cause pseudohypoaldosteronism type 1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCNN1B Knockout HEK293 Cell Line | EDJ-KQ5727 | Human | 6338 | Details Get a Quote |
| SCNN1B Knockout A-549 Cell Line | EDJ-KQ29117 | Human | 6338 | Details Get a Quote |
| SCNN1B Knockout HeLa Cell Line | EDJ-KQ54407 | Human | 6338 | Details Get a Quote |
| SCNN1B Knockout HCT 116 Cell Line | EDJ-KQ71363 | Human | 6338 | Details Get a Quote |
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