Gene: OTX2

Alternate names for this Gene: CPHD6|MCOPS5

Gene Summary: 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q22.3

Description of this Gene: orthodenticle homeobox 2

Type of Gene: protein-coding

Gene: OTX2-AS1

Alternate names for this Gene: OTX2OS1

Gene Summary:

Gene is located in Chromosome: 14

Location in Chromosome : 14q22.3

Description of this Gene: OTX2 antisense RNA 1 (head to head)

Type of Gene: ncRNA

rs61997667 in OTX2;OTX2-AS1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.