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C4B

Chr 6p21.33

complement C4B (Chido/Rodgers blood group)

Aliases:
CPAMD3, C4F, CO4, C4B1, C4B3
MANE:
ENST00000435363.7

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

Disease associations (Open Targets)

  • immunodeficiency due to a classical component pathway complement deficiency

    0.62
  • complement deficiency

    0.46
  • systemic lupus erythematosus

    0.39
  • dengue disease

    0.38
  • neoplasm

    0.10
  • cancer

    0.09
  • coronary artery disorder

    0.08
  • cyclic hematopoiesis

    0.08
  • posterior cortical atrophy

    0.08
  • obstructive sleep apnea syndrome

    0.08

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

Protein function (UniProt)

Complement C4-B

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

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.