Aliases for GTF2I Gene
External Ids for GTF2I Gene
Previous HGNC Symbols for GTF2I Gene
Previous GeneCards Identifiers for GTF2I Gene
This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]
GeneCards Summary for GTF2I Gene
GTF2I (General Transcription Factor IIi) is a Protein Coding gene. Diseases associated with GTF2I include Williams-Beuren Syndrome and Supravalvular Aortic Stenosis. Among its related pathways are cGMP-PKG signaling pathway and RNA Polymerase II Transcription Initiation And Promoter Clearance. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and mitogen-activated protein kinase binding. An important paralog of this gene is GTF2IRD2.
UniProtKB/Swiss-Prot Summary for GTF2I Gene
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.