OTX2

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]

Orthodenticle Homeobox 2

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'.

Axon guidanceManual Assertion Based On ExperimentIDA:UniProtKB
Dopaminergic neuron differentiationManual Assertion Based On ExperimentIGI:ParkinsonsUK-UCL
Forebrain developmentManual Assertion Based On ExperimentTAS:UniProtKB
Midbrain developmentManual Assertion Based On ExperimentTAS:UniProtKB
Positive regulation of embryonic developmentISS:UniProtKB
Positive regulation of gastrulationISS:UniProtKB
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of transcription, DNA-templatedISS:UniProtKB
Primitive streak formationISS:UniProtKB
Protein-containing complex assemblyManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of fibroblast growth factor receptor signaling pathwayManual Assertion Based On ExperimentTAS:UniProtKB
Regulation of smoothened signaling pathwayManual Assertion Based On ExperimentTAS:UniProtKB
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central

Nucleus

Microphthalmia, syndromic, 5 (MCOPS5):
Patients manifest unilateral or bilateral microphthalmia/clinical anophthalmia and variable additional features including pituitary dysfunction, coloboma, microcornea, cataract, retinal dystrophy, hypoplasia or agenesis of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
Pituitary hormone deficiency, combined, 6 (CPHD6):
Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD6 patients manifest neonatal hypoglycemia, and deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone.
Retinal dystrophy, early-onset, with or without pituitary dysfunction (RDEOP):
An autosomal dominant ocular disease characterized by pattern dystrophy of the retinal pigment epithelium, and photoreceptor degeneration. Mild developmental anomalies include optic nerve head dysplasia, microcornea, and Rathke's cleft cyst. Some patients manifest pituitary dysfunction.