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GenoLensGenoLens

TDRD7

Chr 9q22.33

tudor domain containing 7

Aliases:
PCTAIRE2BP
MANE:
ENST00000355295.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bilateral congenital or childhood onset cataracts

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Structural eye disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • early-onset non-syndromic cataract

    0.73
  • Developmental cataract

    0.37
  • gastric cancer

    0.28
  • pericarditis

    0.28
  • hereditary disease

    0.19
  • Posterior polar cataract

    0.11
  • Total congenital cataract

    0.11
  • cataract

    0.11
  • early-onset zonular cataract

    0.11
  • Partial congenital cataract

    0.11

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

Protein function (UniProt)

Tudor domain-containing protein 7

Component of specific cytoplasmic RNA granules involved in post-transcriptional regulation of specific genes: probably acts by binding to specific mRNAs and regulating their translation. Required for lens transparency during lens development, by regulating translation of genes such as CRYBB3 and HSPB1 in the developing lens. Also required during spermatogenesis

Curated MONDO disease pages that list TDRD7 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.