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CD40LG

Chr Xq26.3

CD40 ligand

Aliases:
CD40L, TRAP, gp39, hCD40L, CD154
MANE:
ENST00000370629.7

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Gastrointestinal epithelial barrier disorders

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Infantile enterocolitis & monogenic inflammatory bowel disease

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Fetal anomalies

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Cytopenia - NOT Fanconi anaemia

    X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

  • hyper-IgM syndrome type 1

    0.84
  • X-linked hyper-IgM syndrome

    0.84
  • hyper-IgM syndrome

    0.55
  • hereditary disease

    0.41
  • systemic lupus erythematosus

    0.40
  • common variable immunodeficiency

    0.40
  • Sjogren syndrome

    0.37
  • neurodegenerative disease

    0.21
  • ulcerative colitis

    0.21
  • sarcoidosis

    0.19

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

Protein function (UniProt)

CD40 ligand

Cytokine that acts as a ligand to CD40/TNFRSF5 (PubMed:1280226, PubMed:31331973). Costimulates T-cell proliferation and cytokine production (PubMed:8617933). Its cross-linking on T-cells generates a costimulatory signal which enhances the production of IL4 and IL10 in conjunction with the TCR/CD3 ligation and CD28 costimulation (PubMed:8617933). Induces the activation of NF-kappa-B (PubMed:15067037, PubMed:31331973). Induces the activation of kinases MAPK8 and PAK2 in T-cells (PubMed:15067037). Induces tyrosine phosphorylation of isoform 3 of CD28 (PubMed:15067037). Mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL4 (By similarity). Involved in immunoglobulin class switching (By similarity)

Curated MONDO disease pages that list CD40LG 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.