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TCF3

Chr 19p13.3

transcription factor 3

Aliases:
E2A, ITF1, MGC129647, MGC129648, bHLHb21
MANE:
ENST00000262965.12

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Haematological malignancies cancer susceptibility

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • agammaglobulinemia 8, autosomal dominant

    0.69
  • agammaglobulinemia 8b, autosomal recessive

    0.64
  • neurodegenerative disease

    0.50
  • autosomal agammaglobulinemia

    0.47
  • B-cell acute lymphoblastic leukemia

    0.42
  • hereditary disease

    0.42
  • acute lymphoblastic leukemia

    0.40
  • T-cell acute lymphoblastic leukemia

    0.37
  • hemangioblastoma

    0.37
  • lung adenocarcinoma in situ

    0.37

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

Protein function (UniProt)

Transcription factor 7-like 1

Participates in the Wnt signaling pathway. Binds to DNA and acts as a repressor in the absence of CTNNB1, and as an activator in its presence. Necessary for the terminal differentiation of epidermal cells, the formation of keratohyalin granules and the development of the barrier function of the epidermis (By similarity). Down-regulates NQO1, leading to increased mitomycin c resistance

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.