Entrez gene ID | | 2969 |
Official gene symbol | | GTF2I |
Full name | | general transcription factor IIi |
Aliases | | ,BAP135,BTKAP1,DIWS,FLJ38776,FLJ56355,GTFII-I,IB291,SPIN,TFII-I,WBS,WBSCR6, |
Gene summary | | This gene encodes a multifunctional phosphoprotein with roles in transcription and signal transduction. It is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7, 13 and 21. [provided by RefSeq] |
Location | | Chromosome: 7 Locus: 7q11.23 |
Gene position | | 74072030 - 74175022 Map Viewer |
Gene orientation | | plus |
Gene size | | 102993 bp |
Gene sequence |
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OMIM ID | | 601679 |
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