TAF2

Chr 8

TATA-box binding protein associated factor 2

Also known as: CIF150, MRT40, TAF2B, TAFII150

NCBI Gene: 6873 ENSG00000064313 UniProt: Q6P1X5

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.

ResearchSummary from RefSeq, OMIM, UniProt

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.42

LOEUF

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Mechanism

Some data sources returned errors (1)

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