GTF2I 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.
Alias Symbols: WBS, DIWS, SPIN, IB291, BAP135, BTKAP1, TFII-I, WBSCR6, GTFII-I
Protein Interaction Partner: TP53, ZMYM3, PIAS2, TUBG1, TRAF6, SUMO2, SUMO3, AP2B1, DPY30, GCC1, MTUS2, MDM2, UBC, SUMO1, RPA3, RPA2, RPA1, EED, RNF2, SUZ12, CTPS2, WARS, RPL28, RAD23B, PRPS2, PRKDC, NUCB1, METTL1, ADSL, FBXO6, UBD, CBX2, TAB2, AP4S1, CBX4, MAPK12, C4BPA, MAP3K3, SLU
Protein Size: 978