| Tbio | Homeobox protein OTX2 |
Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5'-TCTAATCCC-3'.
This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sensory organ development. The encoded protein also influences the proliferation and differentiation of dopaminergic neuronal progenitor cells during mitosis. Mutations in this gene cause syndromic microphthalmia 5 (MCOPS5) and combined pituitary hormone deficiency 6 (CPHD6). This gene is also suspected of having an oncogenic role in medulloblastoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Pseudogenes of this gene are known to exist on chromosomes two and nine. [provided by RefSeq, Jul 2012]
This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sensory organ development. The encoded protein also influences the proliferation and differentiation of dopaminergic neuronal progenitor cells during mitosis. Mutations in this gene cause syndromic microphthalmia 5 (MCOPS5) and combined pituitary hormone deficiency 6 (CPHD6). This gene is also suspected of having an oncogenic role in medulloblastoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Pseudogenes of this gene are known to exist on chromosomes two and nine. [provided by RefSeq, Jul 2012]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| medulloblastoma | 720 | 4.79 | 2.4 |
| Combined Pituitary Hormone Deficiency | 1 | 0.0 | 0.0 |
| Jaw Abnormalities | 5 | 0.0 | 0.0 |
| Microphthalmia, Syndromic 5 | 3 | 0.0 | 0.0 |
| Nerve Degeneration | 121 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| group 3 medulloblastoma | 4104 | 5.5e-09 |
| medulloblastoma, large-cell | 6241 | 2.3e-06 |
| atypical teratoid / rhabdoid tumor | 5112 | 2.4e-03 |
| cystic fibrosis and chronic rhinosinusitis | 214 | 9.2e-03 |
| chronic rhinosinusitis | 512 | 2.6e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Microphthalmia | 76 | 5.498 | 2.7 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| agnathia-otocephaly complex | 8 | 6.037 | 3.0 |
| Hypopituitarism | 40 | 4.469 | 2.2 |
| Parkinson's disease | 392 | 3.462 | 1.7 |
| CHARGE syndrome | 26 | 3.28 | 1.6 |
| Congenital aphakia | 6 | 3.175 | 1.6 |
| Fetal valproate syndrome | 4 | 3.138 | 1.6 |
| Retinal Degeneration | 106 | 3.033 | 1.5 |
| Disease | log2 FC | p |
|---|---|---|
| atypical teratoid / rhabdoid tumor | 4.100 | 2.4e-03 |
| chronic rhinosinusitis | 1.106 | 2.6e-02 |
| cystic fibrosis and chronic rhinosinusit... | 2.277 | 9.2e-03 |
| group 3 medulloblastoma | 7.200 | 5.5e-09 |
| medulloblastoma, large-cell | 7.000 | 2.3e-06 |
MMSYLKQPPYAVNGLSLTTSGMDLLHPSVGYPATPRKQRRERTTFTRAQLDVLEALFAKTRYPDIFMREE 1 - 70 VALKINLPESRVQVWFKNRRAKCRQQQQQQQNGGQNKVRPAKKKTSPAREVSSESGTSGQFTPPSSTSVP 71 - 140 TIASSSAPVSIWSPASISPLSDPLSTSSSCMQRSYPMTYTQASGYSQGYAGSTSYFGGMDCGSYLTPMHH 141 - 210 QLPGPGATLSPMGTNAVTSHLNQSPASLSTQGYGASSLGFNSTTDCLDYKDQTASWKLNFNADCLDYKDQ 211 - 280 TSSWKFQVL 281 - 289 //
