TLE4
Chr 9TLE family member 4, transcriptional corepressor
Also known as: BCE-1, BCE1, E(spI), E(spl), ESG, ESG4, GRG4, Grg-4
TLE4 encodes a transcriptional corepressor that inhibits gene expression by binding to transcription factors and regulating Wnt signaling pathways. Mutations cause neurodevelopmental disorders with intellectual disability, seizures, and brain malformations, inherited in an autosomal dominant pattern. This gene is extremely intolerant to loss-of-function variants, indicating that even single gene copies are critical for normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TLE4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools