OR7C2 Gene: Olfactory Receptor Family 7 Subfamily C Member 2
A comprehensive biomedical overview of the OR7C2 gene, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | OR7C2 |
|---|---|
| Full Name | Olfactory Receptor Family 7 Subfamily C Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.1 |
| NCBI Gene ID | 26658 ncbi.nlm.nih.gov/gene/26658 |
| Ensembl ID | ENSG00000127533 |
| UniProt ID | O60412 |
| OMIM ID | 611521 |
| HGNC ID | 8369 |
| Aliases | OR19-17, OR7C2P, OR7C2Q |
Description
OR7C2 encodes an olfactory receptor protein belonging to the G protein-coupled receptor (GPCR) superfamily. These receptors are primarily expressed in olfactory sensory neurons and are involved in odorant detection and signal transduction. The gene is located on chromosome 19p13.1 and is part of the olfactory receptor gene cluster. While its primary role is in olfaction, recent studies have suggested potential ectopic expression in non-olfactory tissues, with implications in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | Potential ectopic expression; may influence tumor progression via GPCR signaling pathways. | Limited evidence from expression studies; not yet validated in large cohorts. |
| Colorectal Cancer | Aberrant expression observed in some tumor samples; possible role in cell proliferation. | Preliminary data from transcriptomic analyses; functional studies lacking. |
| Olfactory Dysfunction | Variants may affect odorant binding or receptor function, contributing to anosmia or hyposmia. | Inferred from homology with other olfactory receptors; no direct clinical evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.8 | Low |
| Prostate | 0.5 | Low |
| Colon | 0.3 | Low |
| Brain | 0.1 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.2 | Low expression; used for heterologous expression studies. |
| HeLa | 0.1 | Minimal expression; not a typical model for OR7C2. |
| LNCaP (prostate cancer) | 0.6 | Moderate expression; potential relevance to prostate cancer. |
| HCT116 (colorectal cancer) | 0.4 | Low expression; possible role in tumor biology. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs201253979 | Missense (p.Arg258Cys) | 0.01% (global) | Potential alteration in ligand binding; functional impact unknown. |
| rs148211042 | Missense (p.Val123Met) | 0.02% (global) | May affect receptor stability; no clinical significance reported. |
| rs139977890 | Synonymous (p.Leu45Leu) | 0.05% (global) | No predicted effect on protein function. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for OR7C2.
Gain of Function (GOF)
No evidence of gain-of-function mutations; receptor activity may be altered but not characterized.
Dominant Negative (DN)
Not applicable; no dominant-negative effects described.
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
OR7C2 is a 312-amino acid protein with seven transmembrane domains, characteristic of olfactory receptors. It is a class A rhodopsin-like GPCR. The protein is involved in odorant recognition and initiates a signaling cascade via G-proteins, leading to cAMP production and neuronal depolarization. Structural studies suggest conserved motifs for ligand binding and G-protein coupling. Post-translational modifications include N-glycosylation at the N-terminus and disulfide bond formation, which are typical for GPCRs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OR7C2 Knockout HEK293 Cell Line | EDJ-KQ8577 | Human | 26658 | Details Get a Quote |
| OR7C2 Knockout HeLa Cell Line | EDJ-KQ55958 | Human | 26658 | Details Get a Quote |
| OR7C2 Knockout A-549 Cell Line | EDJ-KQ64445 | Human | 26658 | Details Get a Quote |
| OR7C2 Knockout HCT 116 Cell Line | EDJ-KQ72901 | Human | 26658 | Details Get a Quote |
