OR1D2

Chr 17

olfactory receptor family 1 subfamily D member 2

NCBI Gene: 4991ENSG00000184166UniProt: P34982

Odorant receptor which may be involved in sperm chemotaxis. Bourgeonal is a strong chemoattractant for sperm in vitro and is shown to be a strong agonist for OR1D2 in vitro. May also function in olfactory reception

0
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— OR1D2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (2)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

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?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.60LOEUF
pLI 0.001
Z-score 0.49
OE 0.79 (0.41–1.60)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.07Z-score
OE missense 0.98 (0.86–1.12)
159 obs / 161.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.79 (0.41–1.60)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.98 (0.86–1.12)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.00
0≤1.21.6
LoF obs/exp: 5 / 6.3Missense obs/exp: 159 / 161.6Syn Z: -0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

OR1D2 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Human olfactory sensitivity for bourgeonal and male infertility: a preliminary investigation.
Ottaviano G et al.·Eur Arch Otorhinolaryngol
2013
Decreased perception of bourgeonal may be linked to male idiopathic infertility.
Sinding C et al.·Chem Senses
2013
Olfactory threshold for bourgeonal and sexual desire in young adult males.
Ottaviano G et al.·Med Hypotheses
2015
Novel bourgeonal fragrance conjugates for the detection of prostate cancer.
Sturzu A et al.·Invest New Drugs
2013
Development and Optimization of an RNA-Isolating Protocol for Mammalian Spermatozoa.
Mounia EO et al.·Int J Mol Sci
2025
Designing exons for human olfactory receptor gene subfamilies using a mathematical paradigm.
Hassan SS et al.·J Biosci
2010
Odorant-receptor interactions and odor percept: a chemical perspective.
Triller A et al.·Chem Biodivers
2008
Effects of 3-octen-2-one on human olfactory receptor responses to vanilla flavor.
Yasunaga M et al.·Biosci Biotechnol Biochem
2022
In Silico Peptide Repertoire of Human Olfactory Receptor Proteomes on High-Stringency Mass Spectrometry.
Adhikari S et al.·J Proteome Res
2019
Computational approaches for decoding structure-saltiness enhancement and aroma perception mechanisms of odorants: From machine learning to molecular simulation.
Ji H et al.·Food Res Int
2025Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools