Aliases for GTF2IRD2 Gene
External Ids for GTF2IRD2 Gene
Previous GeneCards Identifiers for GTF2IRD2 Gene
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]
GeneCards Summary for GTF2IRD2 Gene
GTF2IRD2 (GTF2I Repeat Domain Containing 2) is a Protein Coding gene. Diseases associated with GTF2IRD2 include Williams-Beuren Syndrome and Chromosomal Deletion Syndrome. GO annotations related to this gene include nucleic acid binding. An important paralog of this gene is GTF2IRD2B.