OR1J4
Chr 9olfactory receptor family 1 subfamily J member 4
Also known as: HSHTPCRX01, HTPCRX01, OR9-21
The OR1J4 protein is an olfactory receptor that binds odorant molecules in the nose and initiates G-protein-coupled signaling to trigger smell perception through its 7-transmembrane domain structure. No established human diseases are currently associated with OR1J4 mutations based on the available data. The gene shows tolerance to loss-of-function variants (pLI 0.08, LOEUF 1.41), with a predicted gain-of-function mechanism for potential pathogenic variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative 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
OR1J4 · 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