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GenoLensGenoLens

RHO

Chr 3q22.1

rhodopsin

Aliases:
OPN2, CSNBAD1
MANE:
ENST00000296271.4

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Retinal disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Glaucoma (developmental)

  • Structural eye disease

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • retinitis pigmentosa

    0.85
  • congenital stationary night blindness

    0.70
  • Retinal dystrophy

    0.58
  • fundus albipunctatus

    0.53
  • retinitis punctata albescens

    0.46
  • retinal disorder

    0.44
  • autosomal recessive primary microcephaly

    0.37
  • Rod-cone dystrophy

    0.36
  • Cone rod dystrophy

    0.36
  • Coats disease

    0.36

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

Protein function (UniProt)

Rhodopsin

G protein-coupled photoreceptor that activates the G protein transducin (t) signaling pathway in response to light and is essential for image-forming vision under low-light conditions (PubMed:6140680, PubMed:7846071, PubMed:8107847). Required for postnatal photoreceptor cell viability (PubMed:12566452, PubMed:2215617). Activation occurs when the covalently bound 11-cis-retinal chromophore absorbs a photon and isomerizes to all-trans-retinal, inducing a conformational change in the opsin that triggers G protein-mediated phototransduction (Probable) (PubMed:26200343, PubMed:28753425, PubMed:8107847). Signal termination occurs via receptor phosphorylation, which promotes binding of arrestin (SAG) and displacement of the G protein alpha subunit (Probable) (PubMed:26200343)

Curated MONDO disease pages that list RHO 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.