OR13C8
Chr 9olfactory receptor family 13 subfamily C member 8
Also known as: OR37H, OR9-10
The OR13C8 protein is an olfactory receptor that recognizes odorant molecules and mediates G protein-coupled signal transduction to initiate smell perception. No human diseases have been definitively associated with OR13C8 mutations based on the available information. The gene shows high tolerance to loss-of-function variants (pLI near 0, LOEUF 1.86), suggesting haploinsufficiency is unlikely to cause disease, though gain-of-function mechanisms are predicted if pathogenic variants occur.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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.
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
OR13C8 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools