TAF4B

Chr 18

TATA-box binding protein associated factor 4b

Also known as: SPGF13, TAF2C2, TAFII105

NCBI Gene: 6875 ENSG00000141384 UniProt: Q92750

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.

ResearchSummary from RefSeq, OMIM, UniProt

TATA binding protein (TBP) and TBP-associated factors (TAFs) participate in the formation of the TFIID protein complex, which is involved in initiation of transcription of genes by RNA polymerase II. This gene encodes a cell type-specific TAF that may be responsible for mediating transcription by a subset of activators in B cells. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpermatogenic failure 13

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.41

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429