{"symbol":"GTF2IRD2","synonyms":["FP630","GTF2IRD2A","GTF2IRD2 ALPHA"],"name":"GTF2I repeat domain containing 2","description":"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]","ncbiEntrezGeneId":84163,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/84163","proteins":[{"symbol":"GTD2A_HUMAN","href":"/api/1.0/protein/GTD2A_HUMAN"}],"hgncRootFamilies":[]}