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GTF2IRD2 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.
Gene Name: | GTF2I repeat domain containing 2 |
Synonyms: | GTF2IRD2, FP630, GTF2IRD2 alpha, GTF2IRD2A, Transcription factor GTF2IRD2 |
Target Sequences: | NM_173537 NP_775808.3 Q86UP8 |
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