SCGB3A2

Chr 5AD

secretoglobin family 3A member 2

Also known as: LU103, PNSP1, UGRP1, pnSP-1

NCBI Gene: 117156ENSG00000164265UniProt: Q96PL1OMIM: 606531

The protein encoded by this gene is a secreted lung surfactant protein and a downstream target of thyroid transcription factor. A single nucleotide polymorphism in the promoter of this gene results in susceptibility to asthma.[provided by RefSeq, Mar 2010]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Asthma, susceptibility to}MIM #600807
AD
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.87
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.87LOEUF
pLI 0.006
Z-score -0.05
OE 1.03 (0.44–1.87)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.11Z-score
OE missense 0.95 (0.75–1.23)
44 obs / 46.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.03 (0.44–1.87)
0≤0.351.4
Missense OE?0.95 (0.75–1.23)
0≤0.61.4
Synonymous OE?0.76
0≤1.21.6
LoF obs/exp: 3 / 2.9Missense obs/exp: 44 / 46.1Syn Z: 0.83

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SCGB3A2 · 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