Skip to content
GenoLensGenoLens

IMPG2

Chr 3q12.3

interphotoreceptor matrix proteoglycan 2

Aliases:
IPM200, RP56, SPACRCAN
MANE:
ENST00000193391.8

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

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • retinitis pigmentosa

    0.75
  • retinitis pigmentosa 56

    0.71
  • vitelliform macular dystrophy 5

    0.64
  • Retinal dystrophy

    0.57
  • autosomal recessive retinitis pigmentosa

    0.51
  • adult-onset foveomacular vitelliform dystrophy

    0.47
  • vitelliform macular dystrophy 2

    0.47
  • IMPG2-related recessive retinopathy

    0.44
  • vitelliform macular dystrophy

    0.37
  • Posterior column ataxia - retinitis pigmentosa

    0.37

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

Protein function (UniProt)

Interphotoreceptor matrix proteoglycan 2

Chondroitin sulfate- and hyaluronan-binding proteoglycan involved in the organization of interphotoreceptor matrix; may participate in the maturation and maintenance of the light-sensitive photoreceptor outer segment. Binds heparin

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.