OR7D4
Olfactory Receptor Family 7 Subfamily D Member 4
Gene Information Card
| Symbol | OR7D4 |
|---|---|
| Full Name | Olfactory Receptor Family 7 Subfamily D Member 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 26696 ncbi.nlm.nih.gov/gene/26696 |
| Ensembl ID | ENSG00000174672 |
| UniProt ID | Q8NG98 |
| OMIM ID | 611538 |
| HGNC ID | 15398 |
| Aliases | OR19-10, OR7D4P, OR7D4Q |
Description
OR7D4 is a G protein-coupled olfactory receptor that specifically recognizes androstenone, a steroid pheromone found in human sweat and pork. Genetic polymorphisms, particularly the R88W and T133M variants, are associated with differences in androstenone odor perception, including anosmia or sensitivity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Androstenone anosmia | Loss-of-function variants (R88W, T133M) reduce receptor activation, leading to inability to perceive androstenone odor | ClinVar, NCBI |
| Olfactory dysfunction | Polymorphisms in OR7D4 contribute to interindividual variation in odor perception | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Olfactory mucosa | 0.0 | Not detected (nTPM < 1) |
| Testis | 0.0 | Not detected |
| Skin | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.0 | No endogenous expression; used in heterologous assays |
| Olfactory sensory neurons | N/A | Expressed in cilia of olfactory neurons |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| R88W | missense | ~30% (allele frequency in Europeans) | Reduced response to androstenone |
| T133M | missense | ~10% | Further reduces receptor function in combination with R88W |
Mutation functional classification
Loss of Function (LOF)
R88W and T133M variants impair receptor activation by androstenone, leading to decreased odor perception.
Gain of Function (GOF)
None reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • olfactory receptor activity |
| • detection of chemical stimulus involved in sensory perception of smell | • plasma membrane |
Pathways
• Olfactory transduction (KEGG: hsa04740)
• GPCR ligand binding (Reactome: R-HSA-375276)
Protein Summary
OR7D4 is a 312-amino acid olfactory receptor belonging to the rhodopsin-like GPCR family. It is expressed in olfactory sensory neurons and mediates detection of androstenone. The receptor is activated by androstenone and related steroids, triggering a signaling cascade that leads to odor perception.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OR7D4 Knockout HEK293 Cell Line | EDJ-KQ8836 | Human | 125958 | Details Get a Quote |
| OR7D4 Knockout HeLa Cell Line | EDJ-KQ58156 | Human | 125958 | Details Get a Quote |
| OR7D4 Knockout A-549 Cell Line | EDJ-KQ66640 | Human | 125958 | Details Get a Quote |
| OR7D4 Knockout HCT 116 Cell Line | EDJ-KQ75061 | Human | 125958 | Details Get a Quote |
