| Symbol
| OTX2
| contributors: mct/npt/pgu/shn - updated : 04-04-2018
|
| HGNC name
| orthodenticle homeobox 2
|
| HGNC id
| 8522
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
|
| --over
|
| |
in medulloblastoma | | constitutional
| germinal mutation
|
|
|
| |
acts as a dominant inhibitor of HESX1 that plays a critical role in pituitary development and leads to hypopituitarism | | constitutional
|
|
| --over
|
|
increases GNRH1 promoter activity in GNRH1 neuronal cell lines  | | tumoral
|
|
| --low
|
| |
resulted in decreased expression of MYC and CRX, genes previously implicated in retinoblastoma tumorigenesis | | tumoral
|
|
| --other
|
| |
aberrant expression of OTX2 may contribute to the development of retinoblastoma | | constitutional
|
|
| --low
|
| |
in the adult retina disrupts retinal pigment epithelium function, causing photoreceptor degeneration | |
| Susceptibility
|
to bipolar disorder |
| Variant & Polymorphism
other
| variations might confer risk for the development of bipolar disorder |
| 
|
Candidate gene
Marker
Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| neurosensorial | visual | retina | |
| therapeutic potential of OTX2 protein transduction in retinal dystrophy |
| | | |
|
| by ectopical expression of Otx2 in the presumptive anterior hindbrain using a knock-in mousestrategy into the En1 locus in, animals display a cerebellar ataxia, brains reveal that most of the anterior cerebellar vermis is missing, whereas the inferior colliculus is complementarily enlarged ( | |
mice homozygous for Otx2 deficiency in early head development and pituitary oral ectoderm exhibit craniofacial defects and pituitary gland dysmorphology, but normal pituitary cell specification |