TCF7
Chr 5transcription factor 7
Also known as: TCF-1
The encoded protein is a transcriptional activator that binds to T-lymphocyte-specific enhancer elements and is necessary for T-cell differentiation and survival of CD4+CD8+ immature thymocytes. Loss-of-function mutations in TCF7 cause autosomal recessive T-cell immunodeficiency with absent or severely reduced T-cells, leading to severe combined immunodeficiency. The pathogenic mechanism involves disrupted T-lymphocyte development due to impaired Wnt/beta-catenin signaling and loss of transcriptional activation of essential T-cell genes.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TCF7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools