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One subgroup of atypical teratoid rhabdoid tumors was characterized by high expression of OTX2.
TNF-alpha (show TNF Proteins), secreted from activated Monocytes, mediates the downregulation of OTX2 and essential retinal pigment epithelium genes.
OTX1 and OTX2 genes might have a role in the pathogenesis of different types of sinonasal neoplasms.
OTX2 gene frameshift mutation is associated with microphthalmia, ectopic pituitary and growth hormone (show GH1 Proteins) deficiency.
OTX2 mutations can cause ACTH (show POMC Proteins) deficiency in the neonatal period. Study also shows that OTX2 mutations are associated with agenesis of the Left Internal Carotid Artery.
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 Proteins) and CRX (show CRX Proteins), 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 Proteins)-410 directly regulates predicted target genes OTX2 and RPE65 (show RPE65 Proteins).
barH-like homeobox-2 (show BARHL2 Proteins) gene barhl2 (show BARHL2 Proteins) acts downstream of orthodentricle-2 and together with iroquois-3 in establishment of the caudal forebrain signaling center induced by Sonic Hedgehog (show SHH Proteins)
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 Proteins) proteins coordinate Rax (show RAX Proteins) expression in eye development, providing molecular linkages among the genes responsible for ocular malformation.
Lbh (show LBH Proteins)-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 Proteins) and mitfb (show MITF Proteins), possibly another mitf (show MITF Proteins) 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 Proteins)-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.
Our genetic model reveals that non-cell autonomous Otx2 regulates plasticity broadly across cortical modalities. In Otx2+/AAmice, PV+ cell maturation was delayed throughout the neocortex and ectopic windows of cortical plasticity arose in occipital, parietal and frontal areas, including A1 and mPFC.
Postnatal secretion of this single-chain antibody by PV cells delays PV maturation and reduces plasticity gene expression. Induced adult expression of this single-chain antibody in cerebrospinal fluid decreases Otx2 internalization by PV cells, strongly induces plasticity gene expression and reopens physiological plasticity.
bipolar cell subpopulation imports Otx2 protein from photoreceptors to protect itself from glutamate (show GRIN1 Proteins) 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 Proteins) 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 Proteins) and Otx2/Gbx2 (show GBX2 Proteins) gene expression underlies cerebellar vermis hypoplasia in mouse model of CHARGE syndrome.
Otx2 is required for thyroid hormone (show PTH Proteins)-dependent DA neuron differentiation from embryonic VM NSCs.
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