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FASLG

Chr 1q24.3

Fas ligand

Aliases:
FasL, CD178
MANE:
ENST00000367721.3

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
  • Cytopenia - NOT Fanconi anaemia

    BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Disease associations (Open Targets)

  • autoimmune lymphoproliferative syndrome type 1

    0.70
  • autoimmune lymphoproliferative syndrome

    0.60
  • systemic lupus erythematosus

    0.44
  • open-angle glaucoma

    0.42
  • immunodeficiency 98 with autoinflammation, X-linked

    0.35
  • lung cancer

    0.33
  • atopic eczema

    0.29
  • celiac disease

    0.29
  • allergic rhinitis

    0.28
  • psoriasis

    0.27

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

Protein function (UniProt)

Tumor necrosis factor ligand superfamily member 6

Cytokine that binds to TNFRSF6/FAS, a receptor that transduces the apoptotic signal into cells (PubMed:26334989, PubMed:9228058). Involved in cytotoxic T-cell-mediated apoptosis, natural killer cell-mediated apoptosis and in T-cell development (PubMed:7528780, PubMed:9228058, PubMed:9427603). Initiates fratricidal/suicidal activation-induced cell death (AICD) in antigen-activated T-cells contributing to the termination of immune responses (By similarity). TNFRSF6/FAS-mediated apoptosis also has a role in the induction of peripheral tolerance (By similarity). Binds to TNFRSF6B/DcR3, a decoy receptor that blocks apoptosis (PubMed:27806260)

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.