OR13C3

Chr 9

olfactory receptor family 13 subfamily C member 3

Also known as: OR37G, OR9-8

NCBI Gene: 138803ENSG00000204246UniProt: Q8NGS6

OR13C3 encodes an olfactory receptor that recognizes and transduces odorant signals through G-protein-coupled receptor signaling in the nose. This gene is not tolerant to loss-of-function variants (very low pLI score), but no Mendelian diseases have been established for OR13C3 mutations. Most olfactory receptor genes do not cause recognizable clinical phenotypes when mutated.

ResearchSummary from RefSeq, UniProt
MultiplemechanismLOEUF 1.94
Clinical Summary— OR13C3
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
36 unique Pathogenic / Likely Pathogenic· 57 VUS of 99 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.94LOEUF
pLI 0.000
Z-score -1.22
OE 1.55 (0.88–1.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.58Z-score
OE missense 1.12 (1.00–1.26)
199 obs / 177.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.55 (0.88–1.94)
0≤0.351.4
Missense OE1.12 (1.00–1.26)
0≤0.61.4
Synonymous OE1.25
0≤1.21.6
LoF obs/exp: 9 / 5.8Missense obs/exp: 199 / 177.4Syn Z: -1.59
DN
0.83top 10%
GOF
0.84top 5%
LOF
0.2091th %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

99 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic34
Likely Pathogenic2
VUS57
Likely Benign6
34
Pathogenic
2
Likely Pathogenic
57
VUS
6
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
34
0
34
Likely Pathogenic
0
0
2
0
2
VUS
0
46
11
0
57
Likely Benign
0
4
2
0
6
Benign
0
0
0
0
0
Total05049099

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

OR13C3 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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