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GTF2IRD2

Official Full Name
GTF2I repeat domain containing 2
Organism
Homo sapiens
GeneID
84163
Background
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]
Synonyms
FP630; GTF2IRD2A; GTF2IRD2 alpha;

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