OR2C1
Olfactory Receptor Family 2 Subfamily C Member 1
Gene Information Card
| Symbol | OR2C1 |
|---|---|
| Full Name | Olfactory Receptor Family 2 Subfamily C Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 4993 ncbi.nlm.nih.gov/gene/4993 |
| Ensembl ID | ENSG00000196458 |
| UniProt ID | O95371 |
| OMIM ID | 618377 |
| HGNC ID | 8254 |
| Aliases | OR2C1P, OR2C1Q, OR2C1R, OR2C1S, OR2C1T, OR2C1U, OR2C1V, OR2C1W, OR2C1X, OR2C1Y, OR2C1Z |
Description
OR2C1 (Olfactory Receptor Family 2 Subfamily C Member 1) is a protein-coding gene located on chromosome 16p13.3. It encodes an olfactory receptor protein belonging to the G protein-coupled receptor (GPCR) superfamily. Olfactory receptors are responsible for the detection of odorants and initiate a neuronal response that triggers the perception of smell. The OR2C1 gene is part of the large olfactory receptor gene family, which is the largest gene family in the human genome. OR2C1 is expressed in the olfactory epithelium and other tissues, and its specific ligand is not yet fully characterized.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Olfactory mucosa | Not available | High |
| Testis | 0.3 | Low |
| Brain | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Not available | Not detected |
| HepG2 | Not available | Not detected |
| K562 | Not available | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No known loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No known gain-of-function variants reported.
Dominant Negative (DN)
No known dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • olfactory receptor activity |
| • detection of chemical stimulus involved in sensory perception of smell | • plasma membrane |
| • integral component of membrane |
Pathways
• Olfactory transduction (KEGG: hsa04740)
• GPCR downstream signaling
Protein Summary
OR2C1 is a 312-amino acid olfactory receptor protein with seven transmembrane domains, characteristic of GPCRs. It is involved in odorant recognition and signal transduction via G protein activation. The protein is localized to the plasma membrane of olfactory sensory neurons. Its specific odorant ligands remain unidentified.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OR2C1 Knockout HEK293 Cell Line | EDJ-KQ5386 | Human | 4993 | Details Get a Quote |
| OR2C1 Knockout HeLa Cell Line | EDJ-KQ54054 | Human | 4993 | Details Get a Quote |
| OR2C1 Knockout A-549 Cell Line | EDJ-KQ62542 | Human | 4993 | Details Get a Quote |
| OR2C1 Knockout HCT 116 Cell Line | EDJ-KQ71014 | Human | 4993 | Details Get a Quote |
