TAF8
Chr 6ARTATA-box binding protein associated factor 8
Also known as: II, NEDMLHB, TAF, TAF(II)43, TAFII-43, TAFII43, TBN
TAF8 encodes a TATA-binding protein-associated factor that is an integral subunit of the TFIID transcription complex, which recognizes gene promoters and initiates RNA polymerase II-dependent transcription. Biallelic mutations cause a neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, inherited in an autosomal recessive pattern. The gene shows extreme intolerance to loss-of-function variants (pLI nearly 1), reflecting its essential role in basic cellular transcription machinery.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
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
107 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 | 4 | 0 | 8 | 1 | 13 |
Likely Pathogenic | 2 | 0 | 1 | 0 | 3 |
VUS | 1 | 48 | 4 | 0 | 53 |
Likely Benign | 0 | 2 | 2 | 3 | 7 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 7 | 50 | 15 | 4 | 76 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TAF8 · 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