OPN1MW3: Opsin 1, Medium Wave Sensitive 3
A cone opsin gene involved in color vision and potential retinal disorders.
Gene Information Card
| Symbol | OPN1MW3 |
|---|---|
| Full Name | Opsin 1, Medium Wave Sensitive 3 |
| 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 | 300822 |
| HGNC ID | 8142 |
| Aliases | GCP, MOP, CBBM, OPN1MW, OPN1MW2 |
Description
OPN1MW3 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 chromosome Xq28 and is expressed in retinal cone photoreceptors. Variations in this gene can affect color discrimination and are associated with X-linked color vision deficiencies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Color vision deficiency (protanomaly/deuteranomaly) | Altered opsin spectral sensitivity due to missense or structural variants | ClinVar, OMIM |
| Cone dystrophy | Loss of cone function from pathogenic mutations | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High (nTPM ~200) | Tissue-specific |
| Testis | Low (nTPM ~1) | Minimal expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | nTPM 0.5 | Low/background |
| Y79 (retinoblastoma) | nTPM 15 | Moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.203A>G (p.Asn68Ser) | missense | Rare | Alters spectral tuning |
| c.607C>T (p.Arg203Trp) | missense | Rare | Reduced opsin stability |
Mutation functional classification
Loss of Function (LOF)
Missense variants that disrupt opsin folding or chromophore binding lead to loss of cone function.
Gain of Function (GOF)
Not reported for OPN1MW3.
Dominant Negative (DN)
Not documented; most variants are recessive or X-linked.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • photoreceptor activity |
| • visual perception | • response to light stimulus |
Pathways
• Phototransduction cascade
• Retinol metabolism
Protein Summary
OPN1MW3 encodes a 364-amino acid G protein-coupled receptor (opsin) that binds 11-cis-retinal as a chromophore. Upon photon absorption, it activates transducin to initiate the phototransduction cascade. The protein is specifically expressed in medium-wavelength-sensitive cone cells of the retina, enabling green color vision.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OPN1MW3 Knockout HEK293 Cell Line | EDJ-KQ14567 | Human | 101060233 | Details Get a Quote |
