GTF2IRD2, Official Symbol GTF2IRD2provided by HGNC Official Full Name GTF2I repeat domain containing 2provided by HGNC Primary source HGNC:HGNC:30775 See related Ensembl:ENSG00000196275 MIM:608899; AllianceGenome:HGNC:30775 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FP630; GTF2IRD2A; GTF2IRD2 alpha 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] Expression Ubiquitous expression in ovary (RPKM 19.9), endometrium (RPKM 13.6) and 25 other tissues See more Orthologs mouse all