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OTX2 is a 289 amino acid containing protein encoding a member of the bicoid sub-family of homeodomain-containing transcription factors. It has two known alternative splice variants with distinct isoforms though presence of other isoforms cannot be excluded. The protein is an early marker of endodermal differentiation of embryonic stem cells and may play a role in the development of the brain and the sensory organs. The protein may bind to BCD target sequence (BTS): 5-'TCTAATCCC-3'. Defects in OTX2 are the cause of microphthalmia syndromic type 5 (MCOPS5).
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Protein Aliases: Homeobox protein OTX2; Orthodenticle homolog 2; OTX
Gene Aliases: CPHD6; MCOPS5; OTX2
UniProt ID: (Human) P32243
Entrez Gene ID: (Human) 5015
Molecular Function: homeodomain transcription factor