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C4A

Chr 6p21.33

complement C4A (Chido/Rodgers blood group)

Aliases:
CPAMD2, C4S, CO4, C4, C4A3
MANE:
ENST00000428956.7

Annotations refreshed 7 hours 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

Disease associations (Open Targets)

  • complement component 4a deficiency

    0.60
  • immunodeficiency due to a classical component pathway complement deficiency

    0.56
  • complement deficiency

    0.47
  • systemic lupus erythematosus

    0.40
  • dengue disease

    0.37
  • hereditary disease

    0.19
  • neoplasm

    0.10
  • acute myeloid leukemia

    0.10
  • Alzheimer disease

    0.10
  • age-related macular degeneration

    0.10

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

Protein function (UniProt)

Complement C4-A

Precursor of non-enzymatic components of the classical, lectin and GZMK 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

Curated MONDO disease pages that list C4A 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.