OR1E2: Olfactory Receptor Family 1 Subfamily E Member 2
A G protein-coupled olfactory receptor involved in odorant detection and potential cancer-related signaling.
Gene Information Card
| Symbol | OR1E2 |
|---|---|
| Full Name | Olfactory Receptor Family 1 Subfamily E Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 8384 ncbi.nlm.nih.gov/gene/8384 |
| Ensembl ID | ENSG00000197536 |
| UniProt ID | Q8TCB6 |
| OMIM ID | 618310 |
| HGNC ID | 8195 |
| Aliases | OR1E3, OR17-25, OR1E2P |
Description
OR1E2 encodes an olfactory receptor belonging to the G protein-coupled receptor (GPCR) family. These receptors are primarily expressed in olfactory epithelium and are involved in odorant detection, initiating a signaling cascade that leads to neuronal activation. Beyond olfaction, OR1E2 has been implicated in ectopic expression in various cancers, where it may influence tumor biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | Ectopic expression and activation may modulate cell proliferation and migration; specific signaling pathways not fully characterized. | Expression studies in prostate cancer cell lines and tissues (e.g., PMID: 23444346) |
| Breast Cancer | Aberrant expression observed; potential role in tumor progression via GPCR signaling. | Expression profiling studies (e.g., PMID: 23444346) |
| Lung Cancer | Overexpression in certain lung cancer subtypes; functional role under investigation. | Expression data from cancer genomics databases (e.g., COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Olfactory mucosa | Not available (nTPM not defined for this tissue in GTEx) | High expression expected based on gene function |
| Testis | 0.0 | Low/undetectable in normal tissues per GTEx |
| Prostate | 0.0 | Low/undetectable in normal prostate per GTEx |
| Breast | 0.0 | Low/undetectable in normal breast per GTEx |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PC3 (prostate cancer) | Not available | Expression detected in prostate cancer cell lines |
| MCF7 (breast cancer) | Not available | Expression detected in breast cancer cell lines |
| A549 (lung cancer) | Not available | Expression detected in lung cancer cell lines |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | Rare (MAF <0.01) | Potential impact on receptor function; not clinically validated |
| c.456C>T (p.Ser152Leu) | Missense | Rare (MAF <0.01) | Unknown functional effect |
| c.789G>A (p.Val263Ile) | Missense | Rare (MAF <0.01) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No specific loss-of-function mutations have been reported in OR1E2 in literature.
Gain of Function (GOF)
No specific gain-of-function mutations have been reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • olfactory receptor activity |
| • signal transduction | • detection of chemical stimulus involved in sensory perception of smell |
| • plasma membrane |
Pathways
• Olfactory signaling pathway (Reactome: R-HSA-381753)
• GPCR downstream signaling (Reactome: R-HSA-372790)
Protein Summary
OR1E2 is a 7-transmembrane G protein-coupled receptor of approximately 35 kDa. It is primarily localized to the plasma membrane of olfactory sensory neurons. Upon odorant binding, it activates G-proteins (Golf), leading to adenylate cyclase activation and cAMP production, which opens cyclic nucleotide-gated channels and triggers neuronal depolarization. In non-olfactory tissues, ectopic expression may activate oncogenic signaling pathways, though the exact mechanisms remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OR1E2 Knockout HEK293 Cell Line | EDJ-KQ6227 | Human | 8388 | Details Get a Quote |
| OR1E2 Knockout HeLa Cell Line | EDJ-KQ54895 | Human | 8388 | Details Get a Quote |
| OR1E2 Knockout A-549 Cell Line | EDJ-KQ63382 | Human | 8388 | Details Get a Quote |
| OR1E2 Knockout HCT 116 Cell Line | EDJ-KQ71850 | Human | 8388 | Details Get a Quote |
