| ncRNA Symbol: | GTF2IRD2 |
| Full Name: | GTF2I repeat domain containing 2 |
| Category: | mRNA |
| Synonyms: | FP630|GTF2IRD2 alpha|GTF2IRD2A |
| Chromosome: | chr7 |
| Strand: | - |
| Coordinate: | | Start Site(bp): | 74796144 | End Site(bp): | 74851551 |
|
| Gene Summary: | 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] |
| External Links: | |