Skip to content
GenoLensGenoLens

PDCD2

Chr 6q27

programmed cell death 2

Aliases:
ZMYND7, RP8
MANE:
ENST00000541970.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegenerative disease

    0.52
  • hydrops fetalis

    0.37
  • hepatocellular carcinoma

    0.18
  • Congenital ptosis

    0.09
  • retinitis pigmentosa

    0.09
  • Marcus-Gunn syndrome

    0.08
  • congenital fibrosis of the extraocular muscles

    0.08
  • Duane retraction syndrome

    0.08
  • cancer

    0.07
  • ptosis, hereditary congenital, 1

    0.07

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

Protein function (UniProt)

uS5 assembly chaperone PDCD2

Chaperone for ribosomal protein uS5; cotranslationally associates with uS5 and accompanies the ribosomal protein to assembly sites in the nucleus; appears to function redundantly to PDCD2L

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.