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OPN1MW

Chr Xq28

opsin 1, medium wave sensitive

Aliases:
OPN1MW1, COD5
MANE:
ENST00000595290.6
OMIM: 300821 ↗NCBI: 2652 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Retinal disorders

    X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

  • red-green color blindness

    0.69

  • blue cone monochromacy

    0.64

  • Blue cone monochromatism

    0.54

  • Progressive cone dystrophy

    0.51

  • Cone rod dystrophy

    0.46

  • Rod-cone dystrophy

    0.39

  • cone-rod dystrophy

    0.39

  • retinal disorder

    0.37

  • achromatopsia

    0.36

  • retinitis pigmentosa

    0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Medium-wave-sensitive opsin 1

G protein-coupled photoreceptor that selectively activates G(i) proteins in response to medium-wavelength (green) light, thereby decreasing intracellular cAMP levels (PubMed:2937147, PubMed:6140680, Ref.6). Activation occurs when the opsin-bound cis-retinal chromophore absorbs a photon and isomerizes to all-trans-retinal, inducing a conformational change in the opsin that triggers a G protein-mediated phototransduction cascade (Ref.6). Mediates visual perception of green light in cone photoreceptor cells (PubMed:12051694, PubMed:1302020, PubMed:8666378)

Diseases associated with OPN1MW

Curated MONDO disease pages that list OPN1MW among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.