Entrez 2969 | Ensembl ENSG00000263001 | |
 | ||
Aliases GTF2I, BAP135, BTKAP1, DIWS, GTFII-I, IB291, SPIN, TFII-I, WBS, WBSCR6, general transcription factor IIi External IDs MGI: 1202722 HomoloGene: 7748 GeneCards: GTF2I | ||
Function
This gene encodes a multifunctional phosphoprotein with roles in transcription and signal transduction. It is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. 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.
Interactions
GTF2I has been shown to interact with:
References
GTF2I Wikipedia(Text) CC BY-SA