OTX2
OTX2 (orthodenticle homeobox 2) is a homeodomain-containing transcription factor of the bicoid subfamily that contributes to brain, craniofacial and sensory organ development. It was previously named orthodenticle homolog 2 (Drosophila). Browse Assay Genie's current range of OTX2 research reagents below, or read on for the biology behind the target.
OTX2 is a transcription factor that is probably involved in the development of the brain and the sense organs. It can bind the bicoid target sequence (BTS), 5'-TCTAATCCC-3', a DNA element recognised through its homeodomain. According to the NCBI Gene summary, the protein plays a role in brain, craniofacial and sensory organ development, and it also influences the proliferation and differentiation of dopaminergic neuronal progenitor cells during mitosis.
The OTX2 gene encodes a member of the paired homeobox family, bicoid subfamily, and the HGNC places it in the orthodenticle homeobox family. The protein is located in the nucleus, consistent with its role in regulating gene expression. Alternative splicing of the OTX2 gene produces multiple transcript variants that encode distinct isoforms, and pseudogenes are known on chromosomes two and nine. Mouse and rat both carry an orthologous gene, Otx2, which allows the factor to be studied in common model systems.
Mutations in OTX2 cause syndromic microphthalmia 5 (MCOPS5) and combined pituitary hormone deficiency 6 (CPHD6). The gene is also suspected of having an oncogenic role in medulloblastoma. The name reflects the Drosophila gene orthodenticle, and the human gene is related to OTX1, another member of the orthodenticle homeobox family.
OTX2 is probably involved in brain development and influences proliferation and differentiation of dopaminergic neuronal progenitor cells during mitosis.
The protein plays a role in craniofacial and sensory organ development, making it a focus for studies of how these tissues form.
Mutations in OTX2 cause syndromic microphthalmia 5 and combined pituitary hormone deficiency 6, linking the gene to eye and pituitary conditions.
OTX2 is suspected of having an oncogenic role in medulloblastoma, prompting investigation of its function in brain tumour biology.
OTX2 is a nuclear transcription factor that is probably involved in the development of the brain and sense organs. It can bind the bicoid target sequence 5'-TCTAATCCC-3'. It also influences proliferation and differentiation of dopaminergic neuronal progenitor cells during mitosis.
The HGNC full name is orthodenticle homeobox 2, and the previous name was orthodenticle homolog 2 (Drosophila). UniProt lists the protein as Homeobox protein OTX2. Alternative splicing of the OTX2 gene yields multiple transcript variants encoding distinct isoforms.
Mutations in OTX2 cause syndromic microphthalmia 5 and combined pituitary hormone deficiency 6, and an oncogenic role in medulloblastoma is suspected. Mouse and rat each have an ortholog named Otx2; check the datasheet of any product for its validated reactivity.
Other orthodenticle homeobox family members and developmental transcription factors with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P32243; product specifications from Assay Genie datasheets.