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RAX2

Chr 19p13.3

retina and anterior neural fold homeobox 2

Aliases:
MGC15631, ARMD6, CORD11
MANE:
ENST00000555633.3

Annotations refreshed 9 hours 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

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • cone-rod dystrophy 11

    0.63
  • retinitis pigmentosa 95

    0.58
  • Cone rod dystrophy

    0.52
  • age-related macular degeneration

    0.46
  • cone-rod dystrophy

    0.46
  • Rod-cone dystrophy

    0.46
  • Retinal dystrophy

    0.39
  • retinitis pigmentosa

    0.37
  • age related macular degeneration 6

    0.19
  • macular degeneration

    0.12

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

Protein function (UniProt)

Retina and anterior neural fold homeobox protein 2

May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter

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.