DISEASES

Disease-gene associations mined from literature

Literature associating GTF2I and dyslexia

GTF2I [ENSP00000460070]

Williams-Beuren syndrome chromosomal region 6 protein; Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C- FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Required for the formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin heavy-chain transcription upon B-lymphocyte activation; General transcription factors

Synonyms:  GTF2I,  GTF2Ip,  hGTF2I,  B4DH52,  B4DM07 ...

Linkouts:  STRING  Pharos  UniProt