GTF2IRD1, Official Symbol GTF2IRD1provided by HGNC Official Full Name GTF2I repeat domain containing 1provided by HGNC Primary source HGNC:HGNC:4661 See related Ensembl:ENSG00000006704 MIM:604318; AllianceGenome:HGNC:4661 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 BEN; WBS; GTF3; RBAP2; CREAM1; MUSTRD1; WBSCR11; WBSCR12; hMusTRD1alpha1 Summary The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in thyroid (RPKM 6.1), esophagus (RPKM 4.7) and 23 other tissues See more Orthologs mouse all