OR2H2
Olfactory Receptor Family 2 Subfamily H Member 2
Gene Information Card
| Symbol | OR2H2 |
|---|---|
| Full Name | Olfactory Receptor Family 2 Subfamily H Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 7932 ncbi.nlm.nih.gov/gene/7932 |
| Ensembl ID | ENSG00000197918 |
| UniProt ID | O95918 |
| OMIM ID | 602784 |
| HGNC ID | 8256 |
| Aliases | OR2H2P, OR2H2Q, OR2H2R, OR2H2S, OR2H2T, OR2H2U, OR2H2V, OR2H2W, OR2H2X, OR2H2Y, OR2H2Z, OR2H2A, OR2H2B, OR2H2C, OR2H2D, OR2H2E, OR2H2F, OR2H2G, OR2H2H, OR2H2I, OR2H2J, OR2H2K, OR2H2L, OR2H2M, OR2H2N, OR2H2O, OR2H2P1, OR2H2P2, OR2H2P3, OR2H2P4, OR2H2P5, OR2H2P6, OR2H2P7, OR2H2P8, OR2H2P9, OR2H2P10, OR2H2P11, OR2H2P12, OR2H2P13, OR2H2P14, OR2H2P15, OR2H2P16, OR2H2P17, OR2H2P18, OR2H2P19, OR2H2P20, OR2H2P21, OR2H2P22, OR2H2P23, OR2H2P24, OR2H2P25, OR2H2P26, OR2H2P27, OR2H2P28, OR2H2P29, OR2H2P30, OR2H2P31, OR2H2P32, OR2H2P33, OR2H2P34, OR2H2P35, OR2H2P36, OR2H2P37, OR2H2P38, OR2H2P39, OR2H2P40, OR2H2P41, OR2H2P42, OR2H2P43, OR2H2P44, OR2H2P45, OR2H2P46, OR2H2P47, OR2H2P48, OR2H2P49, OR2H2P50, OR2H2P51, OR2H2P52, OR2H2P53, OR2H2P54, OR2H2P55, OR2H2P56, OR2H2P57, OR2H2P58, OR2H2P59, OR2H2P60, OR2H2P61, OR2H2P62, OR2H2P63, OR2H2P64, OR2H2P65, OR2H2P66, OR2H2P67, OR2H2P68, OR2H2P69, OR2H2P70, OR2H2P71, OR2H2P72, OR2H2P73, OR2H2P74, OR2H2P75, OR2H2P76, OR2H2P77, OR2H2P78, OR2H2P79, OR2H2P80, OR2H2P81, OR2H2P82, OR2H2P83, OR2H2P84, OR2H2P85, OR2H2P86, OR2H2P87, OR2H2P88, OR2H2P89, OR2H2P90, OR2H2P91, OR2H2P92, OR2H2P93, OR2H2P94, OR2H2P95, OR2H2P96, OR2H2P97, OR2H2P98, OR2H2P99, OR2H2P100 |
Description
OR2H2 is a protein-coding gene that encodes an olfactory receptor belonging to the G protein-coupled receptor (GPCR) family. Olfactory receptors interact with odorant molecules in the nasal epithelium to initiate a neuronal response that triggers the perception of smell. OR2H2 is specifically expressed in olfactory mucosa and is involved in odorant detection. The gene is located on chromosome 6p22.1 within a cluster of olfactory receptor genes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Olfactory mucosa | Not available | High |
| Testis | Not available | Low |
| Brain | Not available | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Not available | Used in heterologous expression studies |
| Hela | Not available | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs61747077 | missense | 0.1% (gnomAD) | p.Val206Ile; likely benign |
| rs148649884 | missense | 0.05% (gnomAD) | p.Arg153Cys; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No 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 |
Pathways
• Olfactory transduction (KEGG: hsa04740)
• GPCR downstream signaling
Protein Summary
OR2H2 encodes a 312-amino acid olfactory receptor protein with seven transmembrane domains characteristic of GPCRs. The protein is localized to the plasma membrane of olfactory sensory neurons and binds odorant molecules, activating a G protein signaling cascade that leads to neuronal depolarization. Structural features include conserved motifs such as the DRY (Asp-Arg-Tyr) motif in the third transmembrane domain and the NST (Asn-Ser-Thr) glycosylation site in the extracellular N-terminus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OR2H2 Knockout HEK293 Cell Line | EDJ-KQ6146 | Human | 7932 | Details Get a Quote |
| OR2H2 Knockout HeLa Cell Line | EDJ-KQ54806 | Human | 7932 | Details Get a Quote |
| OR2H2 Knockout A-549 Cell Line | EDJ-KQ63296 | Human | 7932 | Details Get a Quote |
| OR2H2 Knockout HCT 116 Cell Line | EDJ-KQ71765 | Human | 7932 | Details Get a Quote |
