OTX2 Antibody – Mouse Monoclonal

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]

OTX2: Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5'-TCTAC-3'. Expressed in brain. Belongs to the paired homeobox family. Bicoid subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 14q22.3

Cellular Component: growth cone; nucleus; protein complex

Molecular Function: eukaryotic initiation factor 4E binding; protein binding

Biological Process: axon guidance; forebrain development; midbrain development; positive regulation of embryonic development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; protein complex assembly; regulation of fibroblast growth factor receptor signaling pathway; regulation of smoothened signaling pathway

Disease: Microphthalmia, Syndromic 5; Pituitary Hormone Deficiency, Combined, 6