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CD59

Chr 11p13

CD59 molecule (CD59 blood group)

Aliases:
16.3A5, EJ16, EJ30, EL32, G344
MANE:
ENST00000642928.2

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Cytopenias and congenital anaemias

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary neuropathy

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary neuropathy or pain disorder

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Rare anaemia

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • primary CD59 deficiency

    0.77
  • paroxysmal nocturnal hemoglobinuria

    0.50
  • complement deficiency

    0.46
  • dyskeratosis congenita, X-linked

    0.37
  • dyskeratosis congenita

    0.37
  • hereditary disease

    0.18
  • neoplasm

    0.10
  • neuromyelitis optica

    0.10
  • cancer

    0.10
  • breast cancer

    0.09

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

Protein function (UniProt)

CD59 glycoprotein

Potent inhibitor of the complement membrane attack complex (MAC) action, which protects human cells from damage during complement activation (PubMed:11882685, PubMed:1698710, PubMed:2475111, PubMed:2475570, PubMed:2606909, PubMed:9053451). Acts by binding to the beta-haipins of C8 (C8A and C8B) components of the assembling MAC, forming an intermolecular beta-sheet that prevents incorporation of the multiple copies of C9 required for complete formation of the osmolytic pore (PubMed:11882685, PubMed:1698710, PubMed:36797260)

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.