OR2V1 Gene - Olfactory Receptor Family 2 Subfamily V Member 1
A comprehensive biomedical overview of the OR2V1 gene, including genomic context, expression patterns, and clinical relevance.
Gene Information Card
| Symbol | OR2V1 |
|---|---|
| Full Name | Olfactory Receptor Family 2 Subfamily V Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 26696 ncbi.nlm.nih.gov/gene/26696 |
| Ensembl ID | ENSG00000196873 |
| UniProt ID | Q8NGY2 |
| OMIM ID | Not available |
| HGNC ID | HGNC:8281 |
| Aliases | OR2V1P, OR2V2, OR5.2A |
Description
OR2V1 (Olfactory Receptor Family 2 Subfamily V Member 1) is a protein-coding gene located on the long arm of chromosome 5 (5q35.3). It encodes a member of the G-protein coupled receptor (GPCR) family, specifically belonging to the olfactory receptor superfamily. These receptors are primarily expressed in the olfactory epithelium and are responsible for the detection of odorants, initiating a signaling cascade that leads to the perception of smell. The protein is characterized by a 7-transmembrane domain structure typical of GPCRs. While its primary role is in olfaction, olfactory receptors have also been found in other tissues, suggesting potential non-olfactory functions. The gene is intronless, a common feature among olfactory receptor genes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No direct evidence found in ClinVar or OMIM for a specific disease association. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected |
| Skin | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No data available | N/A | No cell line expression data is available in the provided databases. |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No clinically significant variants | N/A | N/A | No pathogenic or likely pathogenic variants have been reported in ClinVar for this gene. |
Mutation functional classification
Loss of Function (LOF)
Not established for any specific disease phenotype.
Gain of Function (GOF)
Not established for any specific disease phenotype.
Dominant Negative (DN)
Not established for any specific disease phenotype.
View complete mutation data:
Gene Ontology (GO)
| • G protein-coupled receptor activity | • olfactory receptor activity |
| • integral component of membrane | • plasma membrane |
| • signal transduction | • detection of chemical stimulus involved in sensory perception of smell |
| • G protein-coupled receptor signaling pathway |
Pathways
• Olfactory Signaling Pathway (Reactome: R-HSA-381753)
Protein Summary
The OR2V1 protein is a typical olfactory receptor, a class A (rhodopsin-like) G-protein coupled receptor. It is predicted to have seven transmembrane alpha-helices, an extracellular N-terminus, and an intracellular C-terminus. The protein is involved in the detection of odorant molecules, which bind to the receptor and activate a G-protein (Golf), leading to the activation of adenylyl cyclase and an increase in cAMP. This triggers a signaling cascade that ultimately results in an action potential in the olfactory neuron. The specific odorant ligand for OR2V1 has not been identified. The protein is predicted to be localized to the plasma membrane of olfactory cilia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OR2V1 Knockout HEK293 Cell Line | EDJ-KQ2128 | Human | 26693 | Details Get a Quote |
| OR2V1 Knockout HeLa Cell Line | EDJ-KQ55966 | Human | 26693 | Details Get a Quote |
| OR2V1 Knockout A-549 Cell Line | EDJ-KQ64453 | Human | 26693 | Details Get a Quote |
| OR2V1 Knockout HCT 116 Cell Line | EDJ-KQ72909 | Human | 26693 | Details Get a Quote |