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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for GTF2IRD1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID9569
Official gene symbolGTF2IRD1
Full nameGTF2I repeat domain containing 1
Aliases,BEN,CREAM1,GTF3,MUSTRD1,RBAP2,WBS,WBSCR11,WBSCR12,hMusTRD1alpha1,
Gene summaryThe 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]
LocationChromosome: 7   Locus: 7q11.23
Gene position73868120 - 74016917  Map Viewer
Gene orientationplus
Gene size148798 bp
Gene sequence
OMIM ID604318