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Symbol OTX2 contributors: mct/npt/pgu/shn - updated : 04-04-2018
HGNC name orthodenticle homeobox 2
HGNC id 8522
corresponding disease(s) MCOPS5 , DEL14Q22 , MCOP2 , AGOTC2
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
Therapy target
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