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A novel pathogenic variant in OTX2, c.651delC, p.(Thr218Hisfs*76) identified in a patient with syndromic bilateral anophthalmia .
demonstrated the role of OTX2 on TAp63 regulation necessary for the correct formation of macular neuroepithelium
Loss of OTX2 expression resulted in decreased expression of C-MYC (show MYC ELISA Kits) and CRX (show CRX ELISA Kits), genes previously implicated in retinoblastoma tumorigenesis. Loss of OTX2 expression increased the phosphorylation of RB, a potential mechanism of modulating cell proliferation
A novel role for OTX2 in self-renewal and migration of human embryonic neural precursors and Medulloblastoma cells, is reported.
We showed that miR (show MLXIP ELISA Kits)-410 directly regulates predicted target genes OTX2 and RPE65 (show RPE65 ELISA Kits).
This epigenome-wide DNA methylation (show HELLS ELISA Kits) analysis in postmortem hippocampus and prefrontal cortex specimens confirmed OTX2 DNA methylation (show HELLS ELISA Kits) profiles in major depression
OTX2 overexpression is associated with medulloblastoma.
SOX2 (show SOX2 ELISA Kits), OTX2 and PAX6 (show PAX6 ELISA Kits) analysis in subjects with anophthalmia and microphthalmia
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.
OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.
barH-like homeobox-2 (show BARHL2 ELISA Kits) gene barhl2 (show BARHL2 ELISA Kits) acts downstream of orthodentricle-2 and together with iroquois-3 in establishment of the caudal (show CAD ELISA Kits) forebrain signaling center induced by Sonic Hedgehog (show SHH ELISA Kits)
While otx2 and otx5 are both capable to promote cement gland formation, otx1 is not.
direct interaction and interdependence between the Otx2 and Sox2 (show SOX2 ELISA Kits) proteins coordinate Rax (show RAX ELISA Kits) expression in eye development, providing molecular linkages among the genes responsible for ocular malformation.
Lbh (show LBH ELISA Kits)-like is a new regulator of photoreceptor differentiation directly through modulating otx2 expression in zebrafish.
These findings suggest that one or more Otx targets in addition to mitfa (show MITF ELISA Kits) and mitfb (show MITF ELISA Kits), possibly another mitf (show MITF ELISA Kits) family member, are necessary for development of the retinal pigmented epithelium in zebrafish.
In vertebrates, the Otx2 promoter acquires multiple, spatiotemporally specific cis (show CISH ELISA Kits)-regulators in order to precisely control highly coordinated processes in head development.
The Zona limitans intrathalamica is induced within the competence area established by Otx1l/2, and is posteriorly restricted by Irx1b.
bipolar cell subpopulation imports Otx2 protein from photoreceptors to protect itself from glutamate (show GRIN1 ELISA Kits) excitotoxicity in the dark.
The Hmga2 gene is activated by Otx2 and Hmga2 protein binds to the enhancers targeted by Otx2, thus facilitating the engagement and/or the stable association of Otx2.
the Otx2 interactome in the adult neural retina
Otx2S is a novel variant of the Otx2 gene with a deletion within the homeodomain sequence. Otx2S is expressed in both the neural retina and retinal pigmented epithelium, and encodes a protein that is targeted to the nucleus.
Otx2 critically depends on Lmx1b (show LMX1B ELISA Kits) for the formation of mdDA neurons.
Otx2 was required for ventral, but not dorsal, identity, thus controlling the production of specific MGE derivatives.
Deregulated FGF8 (show FGF8 ELISA Kits) and Otx2/Gbx2 (show GBX2 ELISA Kits) gene expression underlies cerebellar vermis hypoplasia in mouse model of CHARGE syndrome.
Otx2 is required for thyroid hormone (show PTH ELISA Kits)-dependent DA neuron differentiation from embryonic VM NSCs.
Otx2 acts downstream of N-myc (show MYCN ELISA Kits) and is essential for patterning and spatial restriction of the sensory domain of the mammalian cochlea.
Otx2 expression early in head development is important for establishing normal craniofacial features including development of the brain, eyes and pituitary gland.
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.
homeobox protein OTX2
, orthodenticle homolog 2
, orthodenticle homeobox protein 2
, homeobox Otx2
, homeobox protein OTX2-A
, orthodenticle 2-A
, orthodenticle-A-like protein A