SCNN1B

Chr 16

sodium channel epithelial 1 subunit beta

Also known as: BESC1, ENaCb, ENaCbeta, LIDLS1, PHA1B2, SCNEB, beta-ENaC, beta-NaCH

NCBI Gene: 6338ENSG00000168447UniProt: P51168

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPseudohypoaldosteronism 1B2, autosomal recessive
UniProtLiddle syndrome 1
UniProtBronchiectasis with or without elevated sweat chloride 1
1
Active trials
35
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.80
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — SCNN1B
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.80LOEUF
pLI 0.000
Z-score 2.45
OE 0.53 (0.36–0.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.21Z-score
OE missense 0.97 (0.89–1.06)
362 obs / 373.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.53 (0.36–0.80)
0≤0.351.4
Missense OE?0.97 (0.89–1.06)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 17 / 32.0Missense obs/exp: 362 / 373.5Syn Z: -0.87

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SCNN1B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients