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.

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 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
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