Skip to content
GenoLensGenoLens

C5

Chr 9q33.2

complement C5

Aliases:
CPAMD4, C5a, C5b
MANE:
ENST00000223642.3

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

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

    BIALLELIC, autosomal or pseudoautosomal
  • Ectodermal dysplasia

  • Familial cicatricial alopecia

Disease associations (Open Targets)

  • Immunodeficiency due to a late component of complements deficiency

    0.74
  • paroxysmal nocturnal hemoglobinuria

    0.61
  • myasthenia gravis

    0.59
  • atypical hemolytic-uremic syndrome

    0.54
  • neuromyelitis optica

    0.52
  • age-related macular degeneration

    0.49
  • hemolytic-uremic syndrome

    0.49
  • Protein-losing enteropathy

    0.48
  • atrophic macular degeneration

    0.48
  • complement deficiency

    0.47

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

Protein function (UniProt)

Complement C5

Precursor of the C5a anaphylatoxin and complement C5b components of the complement pathways, which consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system (PubMed:12878586, PubMed:18204047, PubMed:30643019, PubMed:6554279). Activated downstream of classical, alternative, lectin and GZMK complement pathways (PubMed:12878586, PubMed:18204047, PubMed:30643019, PubMed:39914456, PubMed:39814882, PubMed:6554279)

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.