OPN1MW2: Opsin 1, Medium Wave Sensitive 2
A cone opsin gene involved in color vision and potential retinal disorders.
Gene Information Card
| Symbol | OPN1MW2 |
|---|---|
| Full Name | opsin 1, medium wave sensitive 2 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 2652 ncbi.nlm.nih.gov/gene/2652 |
| Ensembl ID | ENSG00000102076 |
| UniProt ID | P04001 |
| OMIM ID | 300824 |
| HGNC ID | 9936 |
| Aliases | GCP, MOP, CBBM, OPN1MW, OPN1MW1 |
Description
OPN1MW2 encodes a medium-wavelength-sensitive cone opsin protein, essential for color vision in the green spectrum. It is part of the opsin gene family on the X chromosome and is expressed in retinal cone photoreceptors. Variations in this gene can affect color perception and are associated with X-linked color vision deficiencies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Color vision deficiency (protanomaly/deuteranomaly) | Altered spectral sensitivity due to missense or structural variants in OPN1MW2 | ClinVar, OMIM |
| Retinitis pigmentosa (rare) | Loss-of-function mutations leading to cone degeneration | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Testis | 0.2 | Low |
| Brain | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.0 | Not expressed |
| Y79 (retinoblastoma) | 8.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.607C>T (p.Arg203Trp) | missense | 0.01% | Alters spectral tuning; associated with deuteranomaly |
| c.203A>G (p.Asn68Ser) | missense | 0.005% | Reduced opsin stability; linked to color vision deficiency |
Mutation functional classification
Loss of Function (LOF)
Missense mutations that disrupt chromophore binding or protein folding lead to loss of function and color vision defects.
Gain of Function (GOF)
Not reported for OPN1MW2.
Dominant Negative (DN)
Not documented; OPN1MW2 is X-linked and typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • photoreceptor activity |
| • visual perception | • response to light stimulus |
Pathways
• Phototransduction cascade
• Visual signal transduction
Protein Summary
OPN1MW2 encodes a 364-amino acid opsin protein that binds 11-cis-retinal as a chromophore. Upon light absorption, it activates the G protein transducin, initiating the phototransduction cascade. The protein is specifically expressed in cone photoreceptors of the retina and is responsible for medium-wavelength (green) light sensitivity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OPN1MW2 Knockout HEK293 Cell Line | EDJ-KQ14566 | Human | 728458 | Details Get a Quote |
| OPN1MW2 Knockout HeLa Cell Line | EDJ-KQ60711 | Human | 728458 | Details Get a Quote |
| OPN1MW2 Knockout A-549 Cell Line | EDJ-KQ69183 | Human | 728458 | Details Get a Quote |
| OPN1MW2 Knockout HCT 116 Cell Line | EDJ-KQ77537 | Human | 728458 | Details Get a Quote |
