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CD70

Chr 19p13.3

CD70 molecule

Aliases:
CD27L, CD27-L
MANE:
ENST00000245903.4

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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)

  • severe combined immunodeficiency due to CD70 deficiency

    0.66
  • combined immunodeficiency

    0.46
  • severe combined immunodeficiency

    0.46
  • non-Hodgkin lymphoma

    0.33
  • hematopoietic and lymphoid cell neoplasm

    0.32
  • neurodegenerative disease

    0.24
  • hereditary disease

    0.19
  • neoplasm

    0.15
  • acute myeloid leukemia

    0.13
  • renal cell carcinoma

    0.12

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

Protein function (UniProt)

CD70 antigen

Expressed at the plasma membrane of B cells, it is the ligand of the CD27 receptor which is specifically expressed at the surface of T cells (PubMed:28011863, PubMed:28011864, PubMed:8387892). The CD70-CD27 signaling pathway mediates antigen-specific T cell activation and expansion which in turn provides immune surveillance of B cells (PubMed:28011863, PubMed:28011864)

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.