Skip to content
GenoLensGenoLens

TCF7L2

Chr 10q25.2-q25.3

transcription factor 7 like 2

Aliases:
TCF-4
MANE:
ENST00000355995.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • type 2 diabetes mellitus

    0.67
  • colorectal adenocarcinoma

    0.61
  • prostate carcinoma

    0.58
  • diabetes mellitus

    0.57
  • breast carcinoma

    0.54
  • myopia

    0.54
  • type 1 diabetes mellitus

    0.53
  • colon adenocarcinoma

    0.52
  • coronary artery disorder

    0.51
  • gestational diabetes

    0.51

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

Protein function (UniProt)

Transcription factor 7-like 2

Participates in the Wnt signaling pathway and modulates MYC expression by binding to its promoter in a sequence-specific manner. Acts as a repressor in the absence of CTNNB1, and as activator in its presence. Activates transcription from promoters with several copies of the Tcf motif 5'-CCTTTGATC-3' in the presence of CTNNB1. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7L2/TCF4 and CTNNB1. Expression of dominant-negative mutants results in cell-cycle arrest in G1. Necessary for the maintenance of the epithelial stem-cell compartment of the small intestine

Curated MONDO disease pages that list TCF7L2 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.