| Entrez gene ID | | 7050 |
|
| Official gene symbol | | TGIF1 |
|
| Full name | | TGFB-induced factor homeobox 1 |
|
| Aliases | | ,HPE4,MGC39747,MGC5066,TGIF, |
|
| Gene summary | | The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and eight variants, encoding four distinct isoforms, are described. [provided by RefSeq] |
|
| Location | | Chromosome: 18 Locus: 18p11.3 |
|
| Gene position | | 3412072 - 3458409 Map Viewer |
|
| Gene orientation | | plus |
|
| Gene size | | 46338 bp |
|
| Gene sequence |
| |
|
| OMIM ID | | 602630 |
|
|
