OR2AG1 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the olfactory receptor 2AG1 gene, including its genomic location, expression patterns, and potential disease associations.
Gene Information Card
| Symbol | OR2AG1 |
|---|---|
| Full Name | Olfactory Receptor Family 2 Subfamily AG Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q12.1 |
| NCBI Gene ID | 390857 ncbi.nlm.nih.gov/gene/390857 |
| Ensembl ID | ENSG00000181744 |
| UniProt ID | Q9H205 |
| OMIM ID | 611493 |
| HGNC ID | 19617 |
| Aliases | OR2AG1, OR2AG1P, OR2AG1_1 |
Description
OR2AG1 encodes an olfactory receptor belonging to the G protein-coupled receptor (GPCR) family. These receptors are primarily expressed in the olfactory epithelium and are involved in odorant detection and signal transduction. The gene is located on chromosome 11q12.1 and is part of a large cluster of olfactory receptor genes. While its primary role is in olfaction, recent studies suggest potential expression in non-olfactory tissues and possible involvement in various physiological processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Olfactory dysfunction | Altered OR2AG1 expression or function may impair odorant detection, contributing to anosmia or hyposmia. | Limited evidence from genetic association studies; further research needed. |
| Cancer (potential) | Aberrant expression of olfactory receptors, including OR2AG1, has been observed in some cancers, suggesting a possible role in tumor biology. | Preliminary studies; not yet clinically validated. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Olfactory epithelium | Not available | High expression expected based on gene function |
| Testis | Not available | Low expression reported in some datasets |
| Lung | Not available | Low expression reported in some datasets |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Not available | Used in heterologous expression studies for functional assays |
| HeLa | Not available | Low endogenous expression; often used for transfection studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs201253747 | SNV | 0.1% (global) | Missense variant; functional impact unknown |
| rs143182343 | SNV | 0.05% (global) | Synonymous variant; no predicted effect |
Mutation functional classification
Loss of Function (LOF)
No specific loss-of-function mutations have been characterized for OR2AG1.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been identified.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • olfactory receptor activity |
| • plasma membrane | • signal transduction |
| • detection of chemical stimulus involved in sensory perception of smell |
Pathways
• Olfactory transduction pathway (KEGG: hsa04740)
• GPCR downstream signaling (e.g.
• cAMP pathway)
Protein Summary
OR2AG1 is a 7-transmembrane G protein-coupled receptor. It is composed of approximately 320 amino acids and is localized to the plasma membrane. Upon odorant binding, it activates G-proteins, leading to increased cAMP and subsequent ion channel opening, generating an action potential in olfactory neurons. Structural studies suggest a typical GPCR fold with an extracellular N-terminus and intracellular C-terminus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OR2AG1 Knockout HEK293 Cell Line | EDJ-KQ10405 | Human | 144125 | Details Get a Quote |
| OR2AG1 Knockout HeLa Cell Line | EDJ-KQ58502 | Human | 144125 | Details Get a Quote |
| OR2AG1 Knockout A-549 Cell Line | EDJ-KQ66990 | Human | 144125 | Details Get a Quote |
| OR2AG1 Knockout HCT 116 Cell Line | EDJ-KQ75391 | Human | 144125 | Details Get a Quote |
