SMR3A

Chr 4

submaxillary gland androgen regulated protein 3A

Also known as: P-B1, PBI, PRL5, PROL5

NCBI Gene: 26952ENSG00000109208UniProt: Q99954

Predicted to enable endopeptidase inhibitor activity. Predicted to be involved in regulation of sensory perception of pain. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.73
LOEUF
DN
Mechanism· predicted
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?
1.73LOEUF
pLI 0.391
Z-score 0.92
OE 0.00 (0.00–1.73)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.59Z-score
OE missense 1.20 (1.00–1.44)
84 obs / 70.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.00 (0.00–1.73)
0≤0.351.4
Missense OE?1.20 (1.00–1.44)
0≤0.61.4
Synonymous OE?0.81
0≤1.21.6
LoF obs/exp: 0 / 1.0Missense obs/exp: 84 / 70.1Syn Z: 0.75

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SMR3A · 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