TFE3
Chr XX-linkedtranscription factor binding to IGHM enhancer 3
TFE3 encodes a transcription factor that regulates lysosomal biogenesis and cellular responses to nutrient availability by binding to specific DNA sequences and promoting expression of lysosomal genes. Mutations cause X-linked intellectual developmental disorder with syndromic features including pigmentary mosaicism and coarse facies. The gene follows X-linked inheritance and is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.29).
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
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
TFE3 · 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
Cabozantinib or Sunitinib Malate in Treating Participants With Metastatic Variant Histology Renal Cell Carcinoma
ACTIVE NOT RECRUITINGStudy of Kidney Tumors in Younger Patients
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools