NCIt definition : Human OTX2 wild-type allele is located in the vicinity of 14q22.3 and is approximately
10 kb in length. This allele, which encodes homeobox protein OTX2, plays a role in
the positive regulation of gene expression during embryonic pattern formation. Mutation
of the gene is associated with both microphthalmia syndromic type 5 and pituitary
hormone deficiency combined type 6.;
NCIt note : Aberrant expression of the OTX2 gene may be associated with subgroup 3 medulloblastoma.
(Nature. 2012; 488:49-56.);