TAF4B
Chr 18ARTATA-box binding protein associated factor 4b
Also known as: SPGF13, TAF2C2, TAFII105
TAF4B encodes a cell type-specific subunit of the TFIID transcription factor complex that functions as a gene-selective coactivator, particularly in B cells, and plays roles in spermiogenesis and oogenesis. Biallelic mutations cause spermatogenic failure with autosomal recessive inheritance. The gene shows high constraint against loss-of-function variants (LOEUF 0.41), suggesting intolerance to complete protein loss.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
226 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 | 35 | 0 | 35 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 119 | 8 | 0 | 127 |
Likely Benign | 0 | 8 | 2 | 5 | 15 |
Benign | 0 | 7 | 1 | 5 | 13 |
| Total | 0 | 134 | 47 | 10 | 191 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TAF4B · 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