GTF2I

Template:Short description Template:Infobox gene General transcription factor II-I is a protein that in humans is encoded by the GTF2I gene.

Function

This gene encodes a multifunctional phosphoprotein, TFII-I, with roles in transcription and signal transduction. Haploinsuffiency (deletion of one copy) of the GTF2I gene is noted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. It is duplicated in the 7q11.23 duplication syndrome. The exon(s) encoding 5' UTR has not been fully defined, but this gene is known to contain at least 34 exons, and its alternative splicing generates 4 transcript variants in humans. A single gain-of-function point mutation in GTF2I is also found in certain Thymomas. Single nucleotide polymorphism (SNP) in GTF2I is correlated to autoimmune disorders.

Interactions

GTF2I has been shown to interact with:

• Bruton's tyrosine kinase,
• HDAC3,
• Histone deacetylase 2,
• MAPK3,
• Myc,
• PRKG1,
• Serum response factor and
• USF1 (human gene).

External links

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.