OR2V2 Gene: Olfactory Receptor Family 2 Subfamily V Member 2

A comprehensive guide to OR2V2, including genomic information, expression, and disease associations.

Gene Information Card

Symbol OR2V2
Full Name Olfactory Receptor Family 2 Subfamily V Member 2
Gene Type protein-coding
Chromosomal Location 5q35.3
NCBI Gene ID 81271 ncbi.nlm.nih.gov/gene/81271
Ensembl ID ENSG00000196873
UniProt ID Q8NG97
OMIM ID 612376
HGNC ID 14790
Aliases OR2V2P, OR2V2Q, OR5.3B4

Description

OR2V2 is a protein-coding gene that encodes an olfactory receptor belonging to the G protein-coupled receptor (GPCR) superfamily. Olfactory receptors are primarily expressed in the olfactory epithelium and are responsible for detecting odorants, initiating a neuronal response that triggers the perception of smell. The OR2V2 gene is located on chromosome 5 at band q35.3 and is part of the large olfactory receptor gene family. While its specific odorant ligands are not fully characterized, it is presumed to function in odor detection. The gene is also noted for its expression in various tissues, suggesting potential non-olfactory roles.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Disease Mechanism Evidence
No specific disease association Not established No curated disease associations found in OMIM, ClinVar, or COSMIC.

Expression Profile

Tissue Expression
Tissue nTPM level
Tissue nTPM Level
Testis 0.8 Low
Skin 0.5 Low
Lung 0.3 Low
Other tissues Not detected Not detected
Cell Line Expression
Cell Line nTPM Notes
Cell Line nTPM Notes
No data available N/A Expression in cell lines not reported in the Human Protein Atlas.
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
Variant Type Frequency Effect
No curated variants N/A N/A No variants reported in ClinVar or COSMIC for OR2V2.
Mutation functional classification

Loss of Function (LOF)

No loss-of-function mutations have been characterized for OR2V2.

Gain of Function (GOF)

No gain-of-function mutations have been characterized for OR2V2.

Dominant Negative (DN)

No dominant-negative mutations have been characterized for OR2V2.

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

The OR2V2 protein is a seven-transmembrane G protein-coupled receptor. It is predicted to localize to the plasma membrane and function in odorant detection. The protein is 312 amino acids long and has a molecular weight of approximately 35 kDa. Structural studies suggest a typical GPCR fold with an extracellular N-terminus and intracellular C-terminus. The protein is expressed at low levels in a few tissues, but its functional significance outside the olfactory system remains unclear.

Related Products

Product name Cat.No. Species Gene ID
OR2V2 Knockout HEK293 Cell Line EDJ-KQ2771 Human 285659 Details Get a Quote
OR2V2 Knockout HeLa Cell Line EDJ-KQ59526 Human 285659 Details Get a Quote
OR2V2 Knockout A-549 Cell Line EDJ-KQ67995 Human 285659 Details Get a Quote
OR2V2 Knockout HCT 116 Cell Line EDJ-KQ76373 Human 285659 Details Get a Quote
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