OR3A3

Chr 17

olfactory receptor family 3 subfamily A member 3

Also known as: OR17-137, OR17-16, OR17-201, OR3A6, OR3A7, OR3A8P

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
MultiplemechanismLOEUF 1.91
Clinical SummaryOR3A3
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.91LOEUF
pLI 0.000
Z-score -0.54
OE 1.30 (0.641.91)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.57Z-score
OE missense 0.87 (0.761.00)
143 obs / 163.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.30 (0.641.91)
00.351.4
Missense OE?0.87 (0.761.00)
00.61.4
Synonymous OE?0.86
01.21.6
LoF obs/exp: 5 / 3.8Missense obs/exp: 143 / 163.5Syn Z: 0.95

This gene — mechanism propensity

DN
0.87top 5%
GOF
0.90top 5%
LOF
0.1399th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

OR3A3 · 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

No active trials found for this gene.

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