OR12D1 Gene - Olfactory Receptor Family 12 Subfamily D Member 1
A comprehensive biomedical overview of the OR12D1 gene, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | OR12D1 |
|---|---|
| Full Name | Olfactory Receptor Family 12 Subfamily D Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 26533 ncbi.nlm.nih.gov/gene/26533 |
| Ensembl ID | ENSG00000172123 |
| UniProt ID | Q8NGH5 |
| OMIM ID | Not available |
| HGNC ID | 14787 |
| Aliases | OR12D1P, OR12D1Q |
Description
OR12D1 is a member of the olfactory receptor (OR) gene family, which encodes G-protein-coupled receptors (GPCRs) responsible for odorant detection in the nasal epithelium. These receptors are characterized by a seven-transmembrane domain structure and are involved in the sensory perception of smell. OR12D1 is located on chromosome 6p22.1 within a cluster of olfactory receptor genes. While its specific odorant ligands are not fully characterized, it is expressed in olfactory tissues and may also have ectopic expression in other tissues, suggesting potential non-olfactory functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated disease association found in ClinVar or OMIM. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected |
| Nasal epithelium | Not available | Expected expression based on gene family |
| Blood | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.0 | Not expressed |
| A549 | 0.0 | Not expressed |
| MCF7 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | Not applicable | Not available | No clinically significant variants reported in ClinVar. |
Mutation functional classification
Loss of Function (LOF)
No evidence of loss-of-function mutations in OR12D1.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • G-protein coupled receptor activity | • olfactory receptor activity |
| • plasma membrane | • integral component of membrane |
| • signal transduction | • detection of chemical stimulus involved in sensory perception of smell |
Pathways
• Olfactory signaling pathway (Reactome: R-HSA-381753)
Protein Summary
OR12D1 is a 312-amino-acid protein with a typical GPCR structure, including seven transmembrane helices. It is predicted to localize to the plasma membrane and function as a receptor for odorant molecules. The protein is part of the olfactory receptor family, which is the largest gene family in the human genome. OR12D1 may also be involved in chemosensory processes beyond olfaction, as some olfactory receptors are ectopically expressed in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OR12D1 Knockout HEK293 Cell Line | EDJ-KQ8545 | Human | 26530 | Details Get a Quote |
| OR12D1 Knockout A-549 Cell Line | EDJ-KQ34695 | Human | 26530 | Details Get a Quote |
| OR12D1 Knockout HCT 116 Cell Line | EDJ-KQ34696 | Human | 26530 | Details Get a Quote |
| OR12D1 Knockout HeLa Cell Line | EDJ-KQ34697 | Human | 26530 | Details Get a Quote |
