TAF3
Chr 10TATA-box binding protein associated factor 3
Also known as: TAF140, TAFII-140, TAFII140
TAF3 encodes a subunit of the TFIID transcription factor complex that recognizes promoters and initiates RNA polymerase II-dependent transcription, and also functions in muscle cell differentiation by forming complexes that replace TFIID at specific promoters. Mutations cause autosomal recessive intellectual disability with dysmorphic facies and behavioral abnormalities. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
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
147 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 28 | 0 | 28 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 88 | 10 | 0 | 98 |
Likely Benign | 0 | 4 | 0 | 0 | 4 |
Benign | 0 | 1 | 1 | 2 | 4 |
| Total | 0 | 93 | 41 | 2 | 136 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TAF3 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools