TFAP2E
Chr 1transcription factor AP-2 epsilon
Also known as: AP-2epsilon, AP2E
TFAP2E encodes a sequence-specific DNA-binding transcription factor that regulates genes involved in eye, face, body wall, limb and neural tube development, and plays a role in CNS development and cartilage differentiation. Mutations cause neurodevelopmental disorders with intellectual disability and multiple congenital anomalies, inherited in an autosomal dominant pattern. The gene shows low constraint against loss-of-function variants, suggesting tolerance to complete gene loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
TFAP2E · 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