Name

GTF2IRD2 Gene

GTF2I repeat domain containing 2

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]

GTF2IRD2P1 Gene

GTF2I repeat domain containing 2 pseudogene 1

GTF2IRD2B Gene

GTF2I repeat domain containing 2B

This gene encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, one CHARLIE8 transposable element-like sequence, and a BED zinc finger. This gene lies within a region that is deleted in Williams-Beuren syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

GTF2IRD2 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for GTF2IRD2 from the Pathway Commons Protein-Protein Interactions dataset.

GTF2IRD2B Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for GTF2IRD2B from the Pathway Commons Protein-Protein Interactions dataset.