TAF2
Chr 8ARTATA-box binding protein associated factor 2
TAF2 encodes a large subunit of transcription factor IID (TFIID) that contributes to RNA polymerase II-mediated transcription initiation and helps determine transcription complex response to activators. Mutations cause intellectual developmental disorder, autosomal recessive 40, through disruption of basal transcription machinery essential for proper gene expression.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TAF2 · 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