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GPR179

Chr 17q12

G protein-coupled receptor 179

Aliases:
CSNB1E
MANE:
ENST00000616987.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Glaucoma (developmental)

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Structural eye disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • congenital stationary night blindness

    0.66
  • Retinal dystrophy

    0.47
  • optic atrophy

    0.45
  • skin disorder

    0.34
  • hereditary disease

    0.19
  • retinitis pigmentosa

    0.16
  • myopia

    0.09
  • open-angle glaucoma

    0.09
  • Leber congenital amaurosis

    0.08
  • Cone rod dystrophy

    0.08

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

Protein function (UniProt)

Probable G protein-coupled receptor 179

Orphan receptor involved in vision (PubMed:22325362, PubMed:24084093). Required for signal transduction through retinal depolarizing bipolar cells (PubMed:22325362). Acts as an atypical G protein-coupled receptor that recruits and regulates the R7 group RGS-GNB5 complexes instead of activating G proteins: promotes the GTPase activator activity of R7 RGS proteins, increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (By similarity). Associates with components of metabotropic signaling cascade in retina ON-bipolar neurons, such as TRPM1 and GRM6: may control the ability of the GRM6 cascade to gate TRPM1 (By similarity)

Curated MONDO disease pages that list GPR179 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.