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CD40

Chr 20q13.12

CD40 molecule

Aliases:
p50, Bp50
MANE:
ENST00000372285.8

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
  • Cytopenia - NOT Fanconi anaemia

    BIALLELIC, autosomal or pseudoautosomal
  • Familial Meniere Disease

Disease associations (Open Targets)

  • hyper-IgM syndrome type 3

    0.80
  • rheumatoid arthritis

    0.60
  • Graves disease

    0.57
  • inflammatory bowel disease

    0.50
  • Crohn disease

    0.50
  • multiple sclerosis

    0.48
  • bipolar disorder

    0.48
  • Kawasaki disease

    0.45
  • thyrotoxicosis

    0.45
  • mathematical ability

    0.45

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

Protein function (UniProt)

Tumor necrosis factor receptor superfamily member 5

Receptor for TNFSF5/CD40LG (PubMed:31331973). Transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells, leading to induction of immunoglobulin secretion (By similarity)

Curated MONDO disease pages that list CD40 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.