General transcription factor II-I repeat domain-containing protein 2 (GTF2IRD2)

General transcription factor II-I repeat domain-containing protein 2 (GTF2IRD2) is a member of the TFII-I family of transcriptional regulators encoded on human chromosome 7q11.23, within the Williams-Beuren syndrome (WBS) critical region[3][2]. The protein is characterized by two I-repeats (helix–loop–helix repeats), a leucine zipper motif, a BED-type zinc finger domain, and a unique C-terminal domain derived in part from a domesticated CHARLIE8 DNA transposon element[5][1]. GTF2IRD2 localizes to cytoplasmic microtubules and discrete nuclear speckles and can interact directly with other family members (TFII-I, GTF2IRD1) to modulate their subcellular localization and function, acting as a negative regulator by sequestering these proteins into inactive nuclear zones[1]. The gene is often deleted in Williams-Beuren syndrome, implicating it in cognitive, behavioral, and muscular phenotypes associated with the syndrome[3][4][2]. While GTF2IRD2 has clear roles in gene regulation and neural development, it is not currently considered a direct therapeutic target, and no drugs are known to interact with this protein.

Other names

GTF2IRD2AGeneral transcription factor II-I repeat domain-containing protein 2AFLJ37938FP630GTF2IRD2 alphaTranscription factor GTF2IRD2-alpha