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TNFRSF13C

Chr 22q13.2

TNF receptor superfamily member 13C

Aliases:
BAFFR, CD268
MANE:
ENST00000291232.5

Annotations refreshed 9 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)

  • immunodeficiency, common variable, 4

    0.63
  • common variable immunodeficiency

    0.44
  • recurrent infections associated with rare immunoglobulin isotypes deficiency

    0.42
  • systemic lupus erythematosus

    0.37
  • Sjogren syndrome

    0.37
  • autoimmune thrombocytopenic purpura

    0.35
  • lupus nephritis

    0.33
  • autoimmune hemolytic anemia

    0.26
  • autoimmune hepatitis

    0.19
  • immunodeficiency, common variable, 2

    0.12

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

Protein function (UniProt)

Tumor necrosis factor receptor superfamily member 13C

B-cell receptor specific for TNFSF13B/TALL1/BAFF/BLyS. Promotes the survival of mature B-cells and the B-cell response

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.