SCNN1A

Chr 12

sodium channel epithelial 1 subunit alpha

Also known as: BESC2, ENaCa, ENaCalpha, LIDLS3, PHA1B1, SCNEA, SCNN1

NCBI Gene: 6337ENSG00000111319UniProt: P37088

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 alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPseudohypoaldosteronism 1B1, autosomal recessive
UniProtBronchiectasis with or without elevated sweat chloride 2
UniProtLiddle syndrome 3

Clinical highlights

Gene-disease validity (ClinGen)
pseudohypoaldosteronism, type IB1, autosomal recessive · ARStrongappropriate for clinical testing
0
Active trials
29
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.91
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — SCNN1A
Authoritative clinical overview · Recommended first read
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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?
0.91LOEUF
pLI 0.000
Z-score 1.97
OE 0.64 (0.46–0.91)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.49Z-score
OE missense 1.07 (0.99–1.16)
443 obs / 414.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.64 (0.46–0.91)
0≤0.351.4
Missense OE?1.07 (0.99–1.16)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 23 / 35.7Missense obs/exp: 443 / 414.9Syn Z: -0.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SCNN1A · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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