基因名：
GTF2IRD2
产品别名：
FP630； GTF2IRD2 alpha； GTF2IRD2A； GTF2IRD2； GTF2I repeat domain containing 2； GTF2I repeat domain containing 2； general transcription factor II-I repeat domain-containing protein 2A； GTF2I repeat domain-containing protein 2, alpha； GTF2I repeat domain-containing protein 2A； general transcription factor II i repeat domain 2 alpha； transcription factor GTF2IRD2-alpha； 通用转录因子II重复结构域α2蛋白；
背景信息：
This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
