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RGS9

Chr 17q24.1

regulator of G protein signaling 9

Aliases:
PERRS, RGS9L, MGC26458, MGC111763
MANE:
ENST00000262406.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Glaucoma (developmental)

  • Structural eye disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • bradyopsia

    0.65
  • neurodegenerative disease

    0.37
  • eye disorder

    0.37
  • Retinal dystrophy

    0.36
  • Leber congenital amaurosis

    0.35
  • actinic keratosis

    0.28
  • hereditary disease

    0.19
  • alcohol drinking

    0.14
  • stroke disorder

    0.14
  • Hepatomegaly

    0.12

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

Protein function (UniProt)

Regulator of G protein signaling 9

Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to GNAT1. Involved in phototransduction; key element in the recovery phase of visual transduction (By similarity)

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.