| Tbio | Pituitary homeobox 3 |
Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during development, it also has roles in the long-term survival and maintenance of the mdDA neurons. Activates NR4A2/NURR1-mediated transcription of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons. Acts by decreasing the interaction of NR4A2/NURR1 with the corepressor NCOR2/SMRT which acts through histone deacetylases (HDACs) to keep promoters of NR4A2/NURR1 target genes in a repressed deacetylated state. Essential for the normal lens development and differentiation. Plays a critical role in the maintenance of mitotic activity of lens epithelial cells, fiber cell differentiation and in the control of the temporal and spatial activation of fiber cell-specific crystallins. Positively regulates FOXE3 expression and negatively regulates PROX1 in the anterior lens epithelium, preventing activation of CDKN1B/P27Kip1 and CDKN1C/P57Kip2 and thus maintains lens epithelial cells in cell cycle (By similarity).
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Anterior segment mesenchymal dysgenesis | 7 | 6.095 | 3.0 |
| Cataract | 297 | 3.956 | 2.0 |
| Cataract, posterior polar, 4 | 1 | 0.0 | 0.0 |
| Microphthalmos | 100 | 0.0 | 0.0 |
| Neoplasm Recurrence, Local | 37 | 0.0 | 0.0 |
| Neurologic Manifestations | 4 | 0.0 | 0.0 |
| Prostatic Neoplasms | 495 | 0.0 | 0.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Parkinson's disease | 392 | 5.689 | 2.8 |
| Niemann-Pick disease | 14 | 4.443 | 2.2 |
| Microphthalmia | 76 | 4.204 | 2.1 |
| Glaucoma | 239 | 3.457 | 1.7 |
| Peters anomaly | 16 | 3.045 | 1.5 |
| Disease | Target Count |
|---|---|
| Cataract 11, Multiple Types | 1 |
MEFGLLSEAEARSPALSLSDAGTPHPQLPEHGCKGQEHSDSEKASASLPGGSPEDGSLKKKQRRQRTHFT 1 - 70 SQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKRERSQQAELCKGSFAAPLGGL 71 - 140 VPPYEEVYPGYSYGNWPPKALAPPLAAKTFPFAFNSVNVGPLASQPVFSPPSSIAASMVPSAAAAPGTVP 141 - 210 GPGALQGLGGGPPGLAPAAVSSGAVSCPYASAAAAAAAAASSPYVYRDPCNSSLASLRLKAKQHASFSYP 211 - 280 AVHGPPPAANLSPCQYAVERPV 281 - 302 //
