RelevanceGTF2IRD2 N-terminal half contains a leucine zipper motif, followed by 2 helix-loop-helix motifs (I repeats) that share homology with the TFII-I family of transcription factors. The C-terminal half of GTF2IRD2A contains a CHARLIE8 transposable element-like sequence, including 3 transposase-related domains that may be functional, and a BED zinc finger DNA-binding motif. It is inferred to be a transcription factor based on the presence of GTF2I-like repeats (containing helix-loop-helix motifs), also found in other proteins such as GTF2IRD1 and GTF2I. GTF2IRD2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. There are six different isoforms, generated by alternative splicing.