TAF2
Function
The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC) (PubMed:33795473). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13 (PubMed:33795473, PubMed:9418870, PubMed:9774672). TAF2 forms a promoter DNA binding subcomplex of TFIID, together with TAF7 and TAF1 (PubMed:33795473, PubMed:9774672).
Involvement in disease
Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity
NEDFCF
An autosomal recessive disorder characterized by impaired intellectual development, microcephaly, delayed psychomotor development, pyramidal signs, thin corpus callosum, and foot deformity.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TAF2 family.
Tissue Specificity
Expressed in all tissues tested.
Cellular localization
- Nucleus
Alternative names
CIF150, TAF2B, TAF2, Transcription initiation factor TFIID subunit 2, 150 kDa cofactor of initiator function, RNA polymerase II TBP-associated factor subunit B, TBP-associated factor 150 kDa, Transcription initiation factor TFIID 150 kDa subunit, TAF(II)150, TAFII-150, TAFII150