Gene: TAF2

Alternate names for this Gene: CIF150|MRT40|TAF2B|TAFII150

Gene Summary: 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.12

Description of this Gene: TATA-box binding protein associated factor 2

Type of Gene: protein-coding

rs398124645 in TAF2 gene and MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 PMID 24084144 2013 Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

rs10092747 in TAF2 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.