Affinage

OTX2

Homeobox protein OTX2 · UniProt P32243

Length
289 aa
Mass
31.6 kDa
Annotated
2026-06-10
100 papers in source corpus 54 papers cited in narrative 54 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 9/9 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

OTX2 is a paired-class homeodomain transcription factor that acts sequentially across development to specify rostral identity, patterning the embryo from the anterior visceral endoderm through the neuroectoderm to the retina (PMID:7590242, PMID:9449667). In the earliest role, OTX2 is required in the visceral endoderm for anteriorly directed morphogenetic movement and induction of forebrain and midbrain, binding the Dkk1 and Lhx1 loci to activate them so as to antagonize Nodal/Wnt signals, with this anterior-mesendoderm activity organized through an OTX2-LHX1-FOXA2-LDB1 complex (PMID:9449667, PMID:11171400, PMID:25231759, PMID:26494787). OTX2 then specifies brain territories in the neuroectoderm by mutual repression with Gbx2 at the Otx2/Gbx2 interface, which positions the isthmic organizer and Fgf8 expression; Gbx2 enforces the boundary by occupying the Otx2 FM enhancer and displacing competing POU factors (PMID:10490025, PMID:10704829, PMID:11731459, PMID:22566684). Within the midbrain it controls progenitor domain identity and dopaminergic versus serotonergic fate by repressing Nkx2.2 and Mash1, and in the adult VTA it maintains dopamine neuron subtype identity by antagonizing Girk2/Dat, conferring resistance to MPTP toxicity (PMID:15105370, PMID:16738237, PMID:21057506). In the eye, OTX2 determines photoreceptor and bipolar cell fate by transactivating Crx and maintaining Nrl, repressing alternative sister-cell fates, while in the RPE it coordinates cell-type-specific target networks essential for long-term retinal maintenance—occupancy differing from neural retina where Crx compensates (PMID:14625556, PMID:24382353, PMID:23761884, PMID:24558479, PMID:32347797). Acting non-cell-autonomously as a secreted homeoprotein from the choroid plexus, OTX2 is captured by parvalbumin interneurons through a glycosaminoglycan-recognition motif to drive their maturation and gate cortical critical-period plasticity via Gadd45b/g (PMID:28194008, PMID:29771284, PMID:31064838). In embryonic stem cells OTX2 pioneers enhancers during exit from naive pluripotency through a reciprocal axis with Oct4, antagonism with Nanog, and cooperation with Hmga2, and it represses germline entry upstream of PGC transcription factors (PMID:24931607, PMID:27292645, PMID:30283136, PMID:27036552). In Group 3 medulloblastoma OTX2 functions as an oncogenic pioneer factor cooperating with NEUROD1 at clustered enhancers to drive cell-cycle genes including NEK2 while repressing differentiation via intrinsic homeodomain repressor activity and suppression of a PAX3-mTORC1 axis (PMID:28213356, PMID:22986744, PMID:32686664). Haploinsufficient OTX2 mutations cause pituitary developmental defects through a hypothalamic FGF10-LHX3 paracrine axis (PMID:31845906).

Mechanistic history

Synthesis pass · year-by-year structured walk · 23 steps
  1. 1995 High

    Established OTX2 as a master determinant of rostral head identity, answering whether any single factor gates anterior body-plan formation.

    Evidence Homozygous and heterozygous targeted Otx2 knockout mice with embryological phenotyping

    PMID:7590242 PMID:8565836

    Open questions at the time
    • Did not identify direct transcriptional targets
    • Dose-sensitivity mechanism with Otx1 not resolved at molecular level
  2. 1994 Medium

    Showed OTX2 expression is itself set by mesoderm-derived inductive cues, defining how its anterior domain is positioned upstream of its patterning function.

    Evidence Explant-recombination assays with retinoic acid treatment

    PMID:7607086

    Open questions at the time
    • Identity of the positive/negative signals not molecularly defined
    • Single-lab explant system
  3. 1998 High

    Separated OTX2's two temporally distinct requirements—first in visceral endoderm to induce, then in neuroectoderm to specify forebrain/midbrain—and named downstream regional markers.

    Evidence Chimeric embryo analysis with Otx2-/- ES cells plus explant-recombination

    PMID:9449667

    Open questions at the time
    • Direct vs indirect regulation of Hesx1/Six3/Pax2/Wnt1/En not distinguished
    • Mechanism of tissue switch unresolved
  4. 1999 High

    Demonstrated the caudal Otx2 boundary positions the isthmic organizer, establishing OTX2 as a boundary-defining factor controlling Fgf8 placement and tectal/cerebellar fate.

    Evidence En1-locus knock-in gain-of-function and chimeric marker analysis in mouse

    PMID:10477297 PMID:10490025

    Open questions at the time
    • Did not establish reciprocal Gbx2 repression mechanism
    • Cell-autonomous vs non-autonomous targets only partly resolved
  5. 2000 Medium

    Defined the molecular logic of the Otx2/Gbx2 boundary as mutual transcriptional repression positioning Fgf8 and the optic tectum limit.

    Evidence In ovo electroporation gain-of-function in chick with target in situ hybridization

    PMID:10704829

    Open questions at the time
    • Direct binding at each other's loci not shown here
    • Single model species
  6. 2000 Medium

    Provided the first biochemical view of OTX2 DNA recognition and protein partnerships, showing C-terminal sequences mediate DNA binding, dimerization, and interaction with LIM1/HNF-3β to tune transcription.

    Evidence EMSA and binding assays with recombinant deletion mutants; co-IP and luciferase reporters; EMSA in GnRH neurons

    PMID:10069392 PMID:10623575 PMID:10935548

    Open questions at the time
    • No structural model of the OTX2-DNA or dimer interface
    • Functional relevance of GnRH-promoter binding in vivo not tested
  7. 2001 High

    Mechanistically anchored the earliest OTX2 role to visceral-endoderm morphogenesis via Lefty1/Mdkk1-dependent antagonism of Nodal/Wnt, and uncovered UTR-dependent translational control restricting OTX2 to specific tissues.

    Evidence Lineage tracing and marker analysis in mutants; otd-UTR knock-in alleles; Otx2/Gbx2 compound mutants

    PMID:11171400 PMID:11731459 PMID:11731460

    Open questions at the time
    • Trans-factors mediating UTR-dependent export/translation not identified
    • Direct vs indirect control of Lefty1/Mdkk1 unresolved at this stage
  8. 2003 High

    Identified Crx as a direct OTX2 target and established OTX2 as the determinant steering retinal progenitors to photoreceptor fate, plus a direct RPE target (DCT).

    Evidence Conditional knockout and retroviral gain-of-function with cell-fate analysis; in vivo ChIP and antisense knockdown in RPE

    PMID:12559959 PMID:14625556

    Open questions at the time
    • Full photoreceptor target network not yet defined
    • RPE vs neural retina target divergence not yet addressed
  9. 2004 High

    Mapped the cis-regulatory architecture (FM, FM2, EP, AN enhancers) controlling Otx2's own dose-dependent expression in forebrain/midbrain and inner cell mass/neuroectoderm.

    Evidence Enhancer-deletion knock-in mice with binding-site mutagenesis and reporters

    PMID:15201223 PMID:15201224

    Open questions at the time
    • Identity of all enhancer-binding factors not fully resolved
    • Quantitative dose thresholds per structure not defined
  10. 2005 High

    Showed OTX2 controls midbrain neuronal subtype identity and neurogenesis independent of organizer positioning, via repression of Nkx2.2/Math1.

    Evidence Nestin-Cre and En1-Cre conditional knockouts with progenitor marker analysis

    PMID:15105370 PMID:15888661

    Open questions at the time
    • Direct binding at Nkx2.2/Math1/Shh-pathway loci not demonstrated
    • Cofactors for repression not identified
  11. 2006 High

    Demonstrated cell-autonomous OTX2 repression of GABAergic fate in dorsal thalamus by repressing Mash1, broadening its progenitor-identity control.

    Evidence Thalamus-specific conditional knockout with fate-marker analysis

    PMID:16738237

    Open questions at the time
    • Direct Mash1 binding not shown
    • Link to proliferation control mechanistically open
  12. 2008 High

    Established that OTX2 partners physically with SOX2 to synergistically activate Rax during eye development, linking partner choice to disease-associated mutations.

    Evidence Co-IP, in vivo ChIP at CNS1, and luciferase reporters

    PMID:18385377

    Open questions at the time
    • Structural basis of OTX2-SOX2 cooperativity unknown
    • Genome-wide extent of co-occupancy not mapped
  13. 2010 High

    Defined OTX2's adult role in maintaining VTA dopamine neuron identity by antagonizing Girk2/Dat and conferring MPTP resistance, and its requirement for long-term RPE/photoreceptor maintenance.

    Evidence Reciprocal conditional loss/gain mouse models with MPTP assay; tamoxifen-inducible adult retinal knockout

    PMID:20657788 PMID:21057506

    Open questions at the time
    • Direct binding at Girk2/Dat loci not demonstrated
    • RPE-maintenance target genes not yet defined genome-wide
  14. 2011 High

    Identified OTX2 as an oncogenic driver of medulloblastoma proliferation, with cell-cycle genes as direct targets and differentiation suppressed.

    Evidence Inducible shRNA with time-course expression profiling and ChIP-on-chip; xenograft with MYC readout

    PMID:20028867 PMID:21964830

    Open questions at the time
    • Whether MYC is a direct vs indirect target unresolved
    • Mechanism of indirect differentiation-gene control unknown
  15. 2012 High

    Showed the OTX2 homeodomain has intrinsic repressor activity, binding the MyoD1 enhancer to block differentiation, and that Gbx2 enforces the Otx2 boundary by competing with POU factors at the FM enhancer.

    Evidence ChIP and domain mutagenesis with differentiation/xenograft assays; in vivo ChIP and competition assays

    PMID:22566684 PMID:22986744

    Open questions at the time
    • Corepressor machinery recruited by the homeodomain not identified
    • Generality of repressor activity across loci not mapped
  16. 2013 High

    Resolved OTX2's RPE target network and combinatorial cone/rod fate logic, and revealed a choroid-plexus secretory role shaping CSF composition and distant cortical signaling.

    Evidence RPE-specific knockout/rescue with ChIP-seq; cis-module reporter assays with Onecut1; dual-Cre choroid plexus knockouts with CSF protein analysis

    PMID:23364326 PMID:23761884 PMID:23867227

    Open questions at the time
    • Mechanism of OTX2 secretion from choroid plexus not defined
    • Direct vs indirect control of CSF Wnt4/Tgm2 unresolved
  17. 2014 High

    Identified direct OTX2 targets in anterior mesendoderm (Dkk1, Lhx1) and rod fate (Nrl), distinguished OTX2 from Crx genomic occupancy, and revealed OTX2 as an enhancer-pioneering factor in ESC pluripotency exit.

    Evidence Conditional knockouts with ChIP-qPCR/reporters; ChIP and rescue at Nrl in CrxRip mice; comparative ChIP-seq; ESC ChIP-seq with histone-mark profiling; Sox6/Otx2 reciprocal knockouts

    PMID:24382353 PMID:24558479 PMID:24931607 PMID:25127144 PMID:25231759

    Open questions at the time
    • How OTX2 distinguishes RPE vs neural-retina cis-elements mechanistically unresolved
    • Pioneer activity not yet linked to specific chromatin remodelers
  18. 2015 Medium

    Placed OTX2 within an LHX1-FOXA2-LDB1 chromatin-looping complex in anterior mesendoderm, providing a physical complex for its early head-organizing function.

    Evidence Proteomic co-IP, Lhx1 ChIP-seq, conditional knockout

    PMID:26494787

    Open questions at the time
    • Stoichiometry and direct contacts within the complex not defined
    • Single-lab proteomic identification
  19. 2016 High

    Defined OTX2's pluripotency network—direct repression of Nanog/Oct4, cooperation with Hmga2 in enhancer pioneering with positive feedback—establishing the regulatory axis governing naive-to-primed transition.

    Evidence ESC/EpiSC ChIP-seq with CRISPR binding-site deletion and blastocyst analysis; Hmga2-null ChIP-seq; TNF-α RPE coculture

    PMID:27036552 PMID:27292645 PMID:27660103

    Open questions at the time
    • Direct chromatin-opening mechanism of OTX2 with Hmga2 not biochemically reconstituted
    • How TNF-α represses OTX2 transcriptionally unresolved
  20. 2017 High

    Established OTX2's non-cell-autonomous control of PV interneuron maturation and critical-period plasticity via a glycosaminoglycan-recognition motif and Gadd45b/g, and its pioneer cooperation with NEUROD1 driving NEK2 in medulloblastoma.

    Evidence Otx2AA knock-in mice with multi-modal physiology; cortical OTX2 infusion with Gadd45b viral expression and methylation analysis; ChIP-seq/ATAC-seq with gain/loss of function in medulloblastoma

    PMID:28194008 PMID:28213356 PMID:29771284

    Open questions at the time
    • Identity of the GAG/perineuronal-net binding partner not molecularly defined
    • How secreted OTX2 reaches the nucleus of target interneurons unresolved
  21. 2018 High

    Revealed OTX2 as a transcriptional roadblock to germline entry, repressing PGC transcription factors so that its loss makes PGC differentiation cytokine- and BLIMP1-independent.

    Evidence In vitro ESC differentiation and in vivo Otx2 deletion with cytokine-withdrawal assays

    PMID:30283136

    Open questions at the time
    • Direct PGC-TF target loci bound by OTX2 not mapped
    • Interaction with BLIMP1 pathway mechanistically open
  22. 2020 High

    Demonstrated OTX2/Crx functional non-equivalence and dose-dependent fate control in the retina, OTX2 repression of sister-cell fates, the V-SVZ secreted-homeoprotein role, the PAX3-mTORC1 differentiation axis in medulloblastoma, and a hypothalamic FGF10-LHX3 axis underlying pituitary disease.

    Evidence Reciprocal Otx2/Crx knock-ins; chick CRISPR with scRNA-seq; retinal CRM ChIP/ATAC-seq; choroid-plexus knockout with CSF antibody sequestration; medulloblastoma ChIP-seq/scRNA-seq with PAX3 gain-of-function; patient iPSC pituitary organoids with mutation correction

    PMID:31064838 PMID:31845906 PMID:31968244 PMID:32347797 PMID:32631829 PMID:32686664

    Open questions at the time
    • Molecular basis of OTX2/Crx neofunctional divergence not fully defined
    • Direct OTX2 targets in pituitary progenitor maintenance not mapped
  23. 2021 High

    Resolved how Otx2 expression is initiated in nascent retinal cells, via redundant Ascl1/Neurog2 input at the DHS-4D enhancer.

    Evidence CRISPR enhancer/TF deletion with systematic mutagenesis and scRNA-seq

    PMID:34143204

    Open questions at the time
    • Whether other enhancers contribute in parallel not excluded
    • Direct bHLH binding kinetics not quantified

Open questions

Synthesis pass · forward-looking unresolved questions
  • How OTX2 is secreted, transferred, and re-internalized to act as a non-cell-autonomous homeoprotein, and the structural/biochemical basis of its pioneer and homeodomain-repressor activities, remain unresolved.
  • No structure of OTX2 bound to DNA or partners
  • Secretion/uptake machinery for the secreted homeoprotein unknown
  • Chromatin-remodeling cofactors enabling pioneer activity unidentified

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003677 DNA binding 8 GO:0140110 transcription regulator activity 8
Localization
GO:0005576 extracellular region 3 GO:0005634 nucleus 2 GO:0005829 cytosol 1
Pathway
R-HSA-1266738 Developmental Biology 6 R-HSA-4839726 Chromatin organization 4 R-HSA-74160 Gene expression (Transcription) 4 R-HSA-1643685 Disease 3
Complex memberships
OTX2-LHX1-FOXA2-LDB1 anterior mesendoderm complex

Evidence

Reading pass · 54 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1995 Homozygous Otx2 knockout mice fail to develop any structures anterior to rhombomere 3, establishing Otx2 as a gap-like transcription factor essential for rostral head formation. Heterozygous mutants show craniofacial malformations (otocephaly) in regions where Otx1 is not co-expressed, revealing a dose-sensitive requirement. Gene knockout (targeted mutation), embryological phenotypic analysis Genes & development High 7590242
1996 A homeodomain-deletion mutation in Otx2 causes severe gastrulation defects, failure to form axial mesoderm, and deletion of rostral brain, demonstrating that Otx2 is required for proper epiblast development and anterior neural patterning. Gene knockout (homeodomain deletion), embryological analysis Development (Cambridge, England) High 8565836
1994 Positive signals from anterior mesendoderm are required to stabilize Otx2 expression in ectoderm, while negative signals from posterior mesendoderm repress it; exogenous retinoic acid mimics the posterior repressive signal, showing that Otx2 expression is regulated by mesoderm-derived inductive signals. Explant-recombination assays, retinoic acid treatment Development (Cambridge, England) Medium 7607086
1998 Chimeric embryo analysis shows Otx2 is required first in the visceral endoderm for induction of forebrain and midbrain, and subsequently in the neuroectoderm for specification of these territories; in the neuroectoderm, Otx2 is required for expression of Hesx1/Rpx, Six3, Pax2, Wnt1, and En. Chimeric embryo analysis (>90% Otx2-/- ES cells), explant-recombination assay Development (Cambridge, England) High 9449667
1999 The caudal boundary of Otx2 expression is sufficient to position the isthmic organizer; ectopic Otx2 expression in presumptive anterior hindbrain (via knock-in into En1 locus) shifts the Otx2/Gbx2 boundary caudally, causing caudal shift of Fgf8, Pax2, Wnt1, and Ephrin-A5 expression and transformation of cerebellum into inferior colliculus tissue. Knock-in gain-of-function strategy, morphological/histological analysis, in situ hybridization of downstream markers Nature High 10490025
1999 Otx2 functions both cell-autonomously and non-cell-autonomously in neurectoderm to regulate expression of region-specific genes including Rpx/Hesx1, Wnt1, R-cadherin, and ephrin-A2 (cell-autonomous) and En2 and Six3 (rescued non-cell-autonomously by surrounding wild-type cells). Forebrain Otx2 mutant cells undergo apoptosis. Chimeric embryo analysis (wild-type and Otx2 mutant cells mixed), molecular marker analysis Development (Cambridge, England) High 10477297
2000 Otx2 and Gbx2 mutually repress each other's expression; ectopic Otx2 represses endogenous Gbx2 and vice versa. The interface between Otx2 and Gbx2 expression domains determines the site of Fgf8 expression and positions the isthmic organizer and the posterior limit of the optic tectum. In ovo electroporation (gain-of-function in chick), in situ hybridization of target genes Mechanisms of development Medium 10704829
2000 Human OTX2 protein binds with high affinity to a specific DNA element (OTS) in the tenascin-C promoter; upon binding, a second OTX2 molecule is recruited to the complex without requiring a second nearby binding site. OTX2 sequences C-terminal to the homeodomain are required in addition to the homeodomain for DNA binding, and the same domains are needed for dimerization. Binding assays with recombinant full-length and deletion mutants, EMSA FEBS letters Medium 10069392
2000 OTX2 directly interacts with LIM1 via its C-terminal region binding the LIM1 homeodomain, and with HNF-3β via both homeodomain and C-terminal regions binding the HNF-3β fork head domain or OTX2 homeodomain. LIM1 enhances OTX2-directed transcription of a P3C reporter, while HNF-3β represses it. Co-immunoprecipitation/direct binding assay, luciferase reporter assay (transient transfection) Biochemical and biophysical research communications Medium 10623575
2000 OTX2 directly binds a bicoid-related Otx target sequence in the GnRH gene proximal promoter (shown by EMSA with baculovirus-expressed Otx2 and nuclear extracts of GT1-7 neurons). OTX2 overexpression in GT1-7 cells induces GnRH promoter activity in an Otx binding site-dependent manner. OTX2 protein is present in GnRH neurons of the adult mouse hypothalamus. EMSA, transient transfection reporter assay, immunohistochemistry Molecular endocrinology Medium 10935548
2001 Otx2 is required in the visceral endoderm for anteriorly directed morphogenetic movement (not proliferation); Otx2 mutation abolishes expression of Lefty1 and Mdkk1 in the anterior visceral endoderm, leading to failure to antagonize Nodal and Wnt signals, causing epiblast cells to acquire primitive streak characteristics. Lineage tracing, molecular marker analysis in Otx2 mutant embryos Development (Cambridge, England) Medium 11171400
2001 Otx2 and Gbx2 double-mutant embryos show broadly overlapping expression of forebrain, midbrain, and hindbrain markers and fail to establish distinct regional identities; FGF8 is expressed throughout the anterior neural plate in the double mutant independently of OTX2 and GBX2, demonstrating that OTX2 and GBX2 are required for segregating regional identities and conferring competence to anterior neuroectoderm. Compound mutant genetic analysis (multiple allele combinations), in situ hybridization of regional markers Development (Cambridge, England) High 11731459
2001 Otx2 5' and 3' UTR sequences are required for nucleo-cytoplasmic export and epiblast-restricted translation of Otx2 mRNA. When the otd coding sequence was fused to intact Otx2 5' and 3' UTRs, translation occurred in epiblast and neuroectoderm and rescued anterior patterning, but without these UTRs translation was restricted to visceral endoderm. Knock-in mouse models (otd2 and otd2FL), molecular analysis of mRNA and protein distribution Development (Cambridge, England) High 11731460
2003 Otx2 transactivates the Crx (cone-rod homeobox) gene; Otx2-deficiency in retinal progenitors converts differentiating photoreceptor cells into amacrine-like neurons, and retroviral gene transfer of Otx2 steers retinal progenitor cells toward photoreceptor cell fate. Conditional gene ablation (knockout), retroviral gene transfer, cell fate analysis Nature neuroscience High 14625556
2003 OTX2 binds the DOPAchrome tautomerase (DCT) gene promoter in vivo in RPE cells (shown by ChIP assay), and activates DCT promoter transcription through the OTX2-binding site in an RPE-specific manner; antisense knockdown of OTX2 decreases DCT protein. Chromatin immunoprecipitation (ChIP), antisense knockdown, transient expression reporter assay Biochemical and biophysical research communications Medium 12559959
2004 Otx2 expression in forebrain and midbrain is regulated by two distinct enhancers (FM at 75 kb 5' and FM2 at 115 kb 3') whose activities require OTX and TCF binding sites. Mice lacking the FM enhancer show dose-dependent loss of diencephalic and mesencephalic structures, with more caudal structures requiring higher OTX dosage. Enhancer deletion knockin mutants, reporter assays, site-directed mutagenesis of binding sites Development (Cambridge, England) High 15201224
2004 Otx2 acts in the ventral midbrain by repressing Nkx2.2 and maintaining the Nkx6.1-expressing domain through dorsal antagonism on Shh. Loss of Otx2 in the ventrolateral midbrain causes dopaminergic neuron reduction, disappearance of red nucleus precursors, and emergence of serotonergic neurons, demonstrating that Otx2 controls identity and fate of neuronal progenitor domains. Conditional Otx2 knockout (Cre under En1 control), in situ hybridization and immunohistochemistry of progenitor markers Development (Cambridge, England) High 15105370
2005 Conditional loss of Otx2 in midbrain neuronal progenitors (Nestin-Cre) causes dorsal midbrain progenitors to ectopically express Math1 generating cerebellar-like structures, and ventral progenitors to express Nkx2.2 ectopically causing serotonergic neuron formation and red nucleus hypoplasia, demonstrating that Otx2 regulates neuronal subtype identity and neurogenesis independently of mid-hindbrain organizer positioning. Conditional knockout (Nestin-Cre/Otx2flox), molecular marker analysis, histology The Journal of neuroscience High 15888661
2006 Otx2 is cell-autonomously required in glutamatergic progenitors of the dorsal thalamus to repress GABAergic differentiation by repressing Mash1 in Ngn2-expressing progenitors. Loss of Otx2 leads to activation of Pax3, Pax7, and Lim1 (markers of pretectum/GABAergic fate) and increased proliferation forming hyperplastic masses. Conditional knockout (thalamus-specific), in situ hybridization, immunohistochemistry for fate markers The Journal of neuroscience High 16738237
2007 Otx2 in the retina is expressed under control of multiple cis-regulatory elements. Two Otx2 cis-regulatory sequences (EP and AN enhancers) at ~90 kb 5' upstream regulate expression in inner cell mass/epiblast (EP) and anterior neuroectoderm (AN); the AN enhancer is a component of the EP enhancer. AN enhancer deletion shows Otx2 expression under the AN enhancer maintains anterior neuroectoderm once induced. Enhancer deletion knockin mice, reporter assays, in situ hybridization Development (Cambridge, England) High 15201223
2007 In postnatal retina, Otx2 subcellular localization is cell-type specific: Otx2 is nuclear in RPE and bipolar cells but cytoplasmic in rod photoreceptors. Retinal explants and transfected cell lines confirm that cytoplasmic retention in immature rods is a developmentally regulated process, suggesting subcellular localization participates in cell fate determination. Immunohistochemistry, retinal explant culture, transfected cell line analysis Brain research. Molecular brain research Medium 10891582
2007 Otx2 plays a role in terminal differentiation of photoreceptors (Otx2+/-;Crx-/- double knockouts show more severe photoreceptor degeneration than Crx-/- alone) and in bipolar cell development; postnatal bipolar-cell-specific Otx2 conditional knockout causes loss of PKC expression (mature bipolar marker) and impaired bipolar cell electrophysiology. Double knockout (Otx2+/-;Crx-/-), postnatal conditional knockout (bipolar-cell-specific Cre), ERG, immunohistochemistry Molecular and cellular biology High 17908793
2008 OTX2 and SOX2 proteins physically interact with each other (interaction affected by Sox2-missense mutations associated with ocular disorders) and together bind to the conserved noncoding sequence CNS1 (~2 kb upstream of Rax promoter), synergistically activating Rax transcription. This interaction is required for eye development. Co-immunoprecipitation (physical interaction), chromatin immunoprecipitation (in vivo binding to CNS1), reporter/luciferase assay Proceedings of the National Academy of Sciences High 18385377
2009 OTX2 knockdown in medulloblastoma cells prolonged survival of animals bearing xenograft tumors; mechanistic investigations revealed upregulation of MYC as a potential mechanism whereby OTX2 promotes tumor progression. Ectopic OTX2 expression enhanced proliferation and tumorigenicity of immortalized primary cells. shRNA knockdown, xenograft mouse model, gene expression analysis, ectopic overexpression Cancer research Medium 20028867
2010 In the adult brain, Otx2 expression is restricted to VTA dopaminergic neurons and excluded from substantia nigra neurons. Otx2 controls VTA neuron subtype identity by antagonizing Girk2 and Dat expression; ectopic Otx2 in substantia nigra suppresses Dat expression and confers MPTP resistance, demonstrating that Otx2 limits efficient dopamine uptake and vulnerability to parkinsonian toxin. Conditional loss- and gain-of-function mouse models, MPTP toxicity assay, immunohistochemistry, behavioral analysis Nature neuroscience High 21057506
2010 Conditional Otx2 deletion in adult mouse retina (tamoxifen-induced) causes slow photoreceptor degeneration and rapid RPE dysfunction, revealing that Otx2 is required for long-term photoreceptor maintenance through control of RPE-specific activities. Conditional self-knockout (CreERT2/flox tamoxifen-induced), histology, ERG PloS one Medium 20657788
2011 Inducible shRNA silencing of OTX2 in D425 medulloblastoma cells strongly inhibits proliferation and causes neuronal-like differentiation. ChIP-on-chip identified cell cycle genes (including visual perception genes) as direct OTX2 targets, while differentiation genes are regulated indirectly. Inducible shRNA, expression profiling (time course), ChIP-on-chip International journal of cancer High 21964830
2011 RAX homeoprotein binds to the EELPOT enhancer (~500 bp conserved element) to transactivate Otx2 in embryonic retinal progenitors during their final cell cycle. NOTCH-HES signaling negatively regulates EELPOT to suppress Otx2 expression. Conditional Rax inactivation causes Otx2 downregulation in vivo. Enhancer identification/reporter assay, conditional knockout (Rax), in vivo ChIP, in situ hybridization The Journal of neuroscience High 22090505
2012 OTX2 binds to the MyoD1 core enhancer through its homeobox domain and acts as a transcriptional repressor; the homeobox domain has intrinsic repressor activity. shRNA-mediated OTX2 knockdown in medulloblastoma cells triggers myogenic and neuronal differentiation in vitro and prolongs survival in orthotopic mouse models. ChIP, domain deletion/mutagenesis to identify repressor activity, shRNA knockdown, in vitro differentiation assay, orthotopic xenograft Cancer research High 22986744
2012 Gbx2 homeodomain directly recognizes the TAATTA sequence in the FM enhancer of Otx2, competing with class III POU factors (Brn1, Brn2, Brn4, Oct6) that also bind this sequence. Gbx2 association with the FM enhancer in hindbrain displaces Brn2, restricting Otx2 expression to forebrain/midbrain. ChIP in anterior neural progenitor cells, microRNA-mediated knockdown of POU factors, electroporation reporter assay, molecular competition assay Molecular and cellular biology High 22566684
2013 Otx2 and Onecut1 combinatorially regulate the ThrbCRM1 cis-regulatory module for the cone marker Thrb; Onecut1 is sufficient to induce earliest cone and horizontal cell markers, while interference with Onecut1 leads to precocious rod development. OTX2 thus participates in combinatorial regulation of cone vs. rod fate. CRM identification by electroporation, in vivo reporter assay, gain- and loss-of-function of Onecut1 and Otx2 Developmental cell Medium 23867227
2013 RPE-specific ablation of Otx2 causes photoreceptor degeneration, and constitutive Otx2 expression in RPE prevents degeneration in Otx2-ablated retinas. ChIP-seq in RPE cells identifies four RPE-specific functional networks coordinated by Otx2, whose target genes are associated with human retinopathies. RPE-specific conditional knockout, ChIP-seq, ERG, gene expression analysis The Journal of neuroscience High 23761884
2013 Otx2 deletion abolishes all choroid plexuses when deleted at E9, and causes apoptosis and size reduction of the hindbrain choroid plexus when deleted later. Otx2 in the choroid plexus regulates CSF protein composition including Wnt4 and Tgm2 levels, affecting Wnt signaling and proliferation in the distant cerebral cortex. Conditional knockout (Otx2-CreERT2 and Gdf7-Cre drivers), histology, protein analysis of CSF, Wnt signaling assay Development (Cambridge, England) High 23364326
2014 Otx2 drives enhancer activation during ESC exit from ground-state pluripotency by affecting chromatin marks (H3K4me1, H3K27ac) at enhancers. Oct4 is required for Otx2 expression, and reciprocally Otx2 is required for efficient Oct4 recruitment to many enhancer regions, establishing a reciprocal Oct4-Otx2 regulatory axis. ChIP-seq, knockout and knockdown in ESCs, enhancer chromatin profiling (H3K4me1/H3K27ac) Cell reports High 24931607
2014 Sox6 and Otx2 define distinct midbrain dopamine neuron subpopulations at the progenitor stage; Sox6 is selectively expressed in SNc neurons while Otx2 is expressed in a VTA subset. Sox6 ablation decreases SNc markers and increases VTA markers; Otx2 ablation has the opposite effect. Sox6 ablation affects striatal innervation and dopamine levels. Conditional knockout of Sox6 and Otx2, immunohistochemistry, dopamine measurement, striatal innervation analysis Cell reports High 25127144
2014 OTX2 binds to the H1 regulatory region of Dkk1 to activate its expression in the anterior mesendoderm (AME). OTX2 also binds two conserved regions in the Lhx1 locus to activate Lhx1 expression. Tissue-specific ablation of Otx2 in the AME disrupts Dkk1 and Lhx1 expression and phenocopies head truncation of the Otx2 null mutant. Tissue-specific conditional knockout, ChIP-qPCR, luciferase reporter assay, cross-species comparative analysis Development (Cambridge, England) High 25231759
2014 OTX2 maintains Nrl expression in developing rods by binding to the Nrl promoter; in CrxRip dominant frameshift mutant mice, OTX2 binding at the Nrl promoter is obliterated. Ectopic OTX2 expression rescues the rod differentiation defect in CrxRip/+ mice. Spontaneous mutant mouse model, RNA-seq, ChIP (OTX2 at Nrl promoter), ectopic OTX2 overexpression rescue The Journal of clinical investigation High 24382353
2014 ChIP-seq in mature mouse neural retina shows Otx2 and Crx occupy largely overlapping genomic loci in the neural retina but different functional domains in RPE. In RPE cells, Otx2 occupies different cis-regulatory elements and regulates mostly different gene sets than in neural retina, explaining its essential role in RPE and non-essential role in neural retina (where Crx compensates). ChIP-seq (two independent assays for Otx2 in neural retina and RPE), comparison with Crx ChIP-seq data PloS one High 24558479
2015 Lhx1, Otx2, and Foxa2 form a protein complex (also containing the chromatin-looping protein Ldb1) in the anterior mesendoderm, identified by proteomic experiments (co-IP/MS). Lhx1 ChIP-seq shows binding at enhancers controlling Otx2 and Foxa2 expression, and conditional Lhx1 knockout disrupts anterior definitive endoderm development. Proteomic co-immunoprecipitation, ChIP-seq (Lhx1), conditional knockout Genes & development Medium 26494787
2016 Otx2 directly binds the Nanog promoter (strongest Otx2-binding site identified by ChIP-seq in ESCs); deletion of this Otx2-binding site in the Nanog promoter modulates ESC subtype compartment sizes and reduces Nanog expression in vivo, predisposing ICM differentiation to epiblast. Nanog and Oct4 are identified as direct Otx2 targets in ESCs. ChIP-seq in ESCs and EpiSCs, CRISPR/Cas9 targeting of Otx2 binding site in Nanog promoter, in vivo blastocyst analysis Cell reports High 27292645
2017 A genetic point mutation in the glycosaminoglycan (GAG) recognition motif of Otx2 (Otx2AA) broadly delays maturation of parvalbumin-positive (PV+) interneurons across visual, auditory, and prefrontal cortex, delaying critical period plasticity in multiple modalities, and causes dynamic turnover of perineuronal net (PNN) components beyond normal critical period. Knock-in mouse model (Otx2AA point mutation), electrophysiology, immunohistochemistry for PV and PNN markers, behavioral analysis Molecular psychiatry High 28194008
2017 OTX2 functions as a pioneer factor in Group 3 medulloblastoma, occupying most active distal regulatory elements. OTX2 cooperates with NEUROD1 at clustered enhancer elements; OTX2 knockdown reduces enhancer activity and ectopic OTX2 can generate new regulatory elements de novo. NEK2 kinase is identified as a direct OTX2 target gene. ChIP-seq, ATAC-seq, shRNA knockdown, ectopic OTX2 expression in primary cells, NEK2 pharmacologic inhibition Cancer discovery High 28213356
2017 Non-cell-autonomous transfer of OTX2 homeoprotein into juvenile mouse visual cortex directly induces Gadd45b/g expression via transcriptional regulation. In the adult cortex, reducing cortical OTX2 has the reverse effect (Gadd45b/g upregulation). Viral Gadd45b expression in adult V1 induces ocular dominance plasticity with MeCP2 foci changes and methylation changes at plasticity gene promoters. OTX2 cortical infusion, Otx2+/GFP mice, viral expression of Gadd45b, MeCP2 immunohistochemistry, DNA methylation analysis, ocular dominance plasticity assay Cerebral cortex Medium 29771284
2018 OTX2 acts as a transcriptional repressor upstream of PGC transcription factors in the epiblast, functioning as a roadblock to limit germline entry. Otx2 deletion in vitro markedly increases PGC-like cell differentiation efficiency and prolongs PGC competence; in the absence of Otx2, PGC-like cell differentiation becomes independent of normally essential cytokine signals and of BLIMP1. Otx2 deletion in vivo increases PGC numbers. In vitro Otx2 deletion (ESC differentiation system), in vivo Otx2 deletion (PGC counting), cytokine withdrawal experiments Nature High 30283136
2019 OTX2 secreted by choroid plexus is transferred non-cell-autonomously to supporting cells of the ventricular-subventricular zone (V-SVZ) and rostral migratory stream. Deletion of Otx2 in choroid plexus impairs neuroblast migration and reduces olfactory bulb newborn neurons. OTX2 modifies extracellular matrix components and signaling molecules produced by supporting astrocytes. Choroid plexus-specific Otx2 deletion, secreted antibody sequestration of OTX2 in CSF, neurosphere migration assay, ECM analysis eNeuro Medium 31064838
2020 OTX2 and Crx cannot be functionally substituted for each other in photoreceptor development (knockin of Crx into Otx2 locus and vice versa show non-equivalence). High Otx2 levels induce photoreceptor cell fate but not bipolar cell fate; reduced Otx2 impairs bipolar cell maturation and survival. Synteny analysis identifies both Otx2 and Crx in lamprey, suggesting the ancestor possessed both, with neofunctionalization of Otx2 in jawed vertebrates. Knockin mouse lines (Crx replaced by Otx2, Otx2 replaced by Crx), histology, ERG, synteny analysis Cell reports High 31968244
2020 OTX2 CRISPR/Cas9 somatic knockout in chick retina confirms requirement for photoreceptor generation and identifies repression of specific retinal ganglion and horizontal cell fates as additional OTX2 functions. Single-cell RNA sequencing demonstrates OTX2 represses sister cell fate choices in OTX2-expressing progenitors. CRISPR/Cas9 somatic gene editing in chick retina, single-cell RNA sequencing eLife High 32347797
2020 Seven Otx2 cis-regulatory modules (CRMs) regulate its expression in the mouse retina in a cell type- and stage-specific manner. Otx2, Crx, and Sox2 bind to and activate distinct CRMs (O5, O7, O9 respectively), and these CRMs have distinct chromatin states in different retinal cell types. Reporter assay by electroporation, ChIP for TF binding, ATAC-seq for chromatin status Development (Cambridge, England) High 32631829
2020 OTX2 silencing in Group 3 medulloblastoma cells modulates repressive chromatin landscape, decreases PRC2 complex gene levels, and increases expression of PAX3 and PAX6. PAX3 (but not PAX6) inhibits self-renewal in vitro and increases survival in vivo. mTORC1 signaling is identified as a downstream effector of the OTX2-PAX3 axis. OTX2 silencing (shRNA), ChIP-seq (chromatin landscape), single-cell RNA-seq, PAX3/PAX6 gain-of-function, orthotopic xenograft Nature communications High 32686664
2020 OTX2 in hypothalamic neural ectoderm (not oral ectoderm) is essential for pituitary progenitor cell maintenance; OTX2 in hypothalamus regulates FGF10 expression, which in turn drives LHX3 expression in oral ectoderm (Rathke's pouch). OTX2-haploinsufficient patient iPSCs show increased apoptosis in pituitary progenitor cells in a 3D organoid model. Patient iPSC-derived 3D organoids, tissue-specific Otx2 ablation, iPSC mutation correction, haploinsufficiency modeling The Journal of clinical investigation High 31845906
2021 Ascl1 and Neurog2 act redundantly/in a compensatory fashion through three bHLH binding sites in the DHS-4D enhancer to initiate Otx2 expression in newly formed OTX2+ retinal cells. Simultaneous CRISPR loss of both Ascl1 and Neurog2 prevents OTX2 expression; loss of either alone does not. CRISPR/Cas9 enhancer deletion and TF knockout, scRNA-seq of nascent Otx2+ cells, systematic enhancer mutagenesis, reporter assay Development (Cambridge, England) High 34143204
2016 Hmga2 cooperates with Otx2 in pioneering new enhancers during ESC differentiation to EpiLCs. In Hmga2-null cells, Otx2 fails to engage and activate new enhancers and regulate its target genes upon differentiation induction. Otx2 activates Hmga2 transcription, forming a positive feedback loop. Hmga2 knockout iPSCs, ChIP-seq for Otx2 binding in WT vs KO cells, gene expression profiling BMC biology Medium 27036552
2017 Functional antagonism between OTX2 and NANOG specifies ESC heterogeneity: Otx2-null ESCs exhibit naive identity features similar to Nanog-overexpressing ESCs; Nanog-null or Otx2-overexpressing ESCs exhibit primed identity. Double inactivation of both shows primed identity, demonstrating mutual antagonism specifies the balance between naive and primed states. Knockout and overexpression of Otx2 and Nanog in ESCs, LIF+FBS and 2i/FGF conversion assays, gene expression analysis Stem cell reports Medium 29056334
2016 Activated monocytes downregulate OTX2 expression in RPE cells via TNF-α secretion; TNF-α mediates downregulation of OTX2 and essential RPE genes (including visual cycle genes) in coculture experiments with human RPE cells. Coculture assay (monocytes + primary porcine RPE / iPSC-derived human RPE), TNF-α neutralization, gene expression analysis Aging cell Medium 27660103

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1995 Mouse Otx2 functions in the formation and patterning of rostral head. Genes & development 591 7590242
2003 Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development. Nature neuroscience 499 14625556
1996 A targeted mouse Otx2 mutation leads to severe defects in gastrulation and formation of axial mesoderm and to deletion of rostral brain. Development (Cambridge, England) 430 8565836
1994 Positive and negative signals from mesoderm regulate the expression of mouse Otx2 in ectoderm explants. Development (Cambridge, England) 296 7607086
1994 Otx1 and Otx2 define layers and regions in developing cerebral cortex and cerebellum. The Journal of neuroscience : the official journal of the Society for Neuroscience 266 7931541
1999 The caudal limit of Otx2 expression positions the isthmic organizer. Nature 255 10490025
1998 Sequential roles for Otx2 in visceral endoderm and neuroectoderm for forebrain and midbrain induction and specification. Development (Cambridge, England) 243 9449667
2001 Coordinate expression of Fgf8, Otx2, Bmp4, and Shh in the rostral prosencephalon during development of the telencephalic and optic vesicles. Neuroscience 220 11734354
2004 Otx2 regulates the extent, identity and fate of neuronal progenitor domains in the ventral midbrain. Development (Cambridge, England) 174 15105370
1999 Otx1 and Otx2 activities are required for the normal development of the mouse inner ear. Development (Cambridge, England) 172 10225993
2007 Functional roles of Otx2 transcription factor in postnatal mouse retinal development. Molecular and cellular biology 160 17908793
2006 Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2. Clinical genetics 149 16712695
1997 Implication of OTX2 in pigment epithelium determination and neural retina differentiation. The Journal of neuroscience : the official journal of the Society for Neuroscience 128 9151741
2014 Sox6 and Otx2 control the specification of substantia nigra and ventral tegmental area dopamine neurons. Cell reports 124 25127144
2000 Interaction between Otx2 and Gbx2 defines the organizing center for the optic tectum. Mechanisms of development 122 10704829
2005 Otx2 regulates subtype specification and neurogenesis in the midbrain. The Journal of neuroscience : the official journal of the Society for Neuroscience 121 15888661
2001 Otx2 is required for visceral endoderm movement and for the restriction of posterior signals in the epiblast of the mouse embryo. Development (Cambridge, England) 121 11171400
2013 Otx2 and Onecut1 promote the fates of cone photoreceptors and horizontal cells and repress rod photoreceptors. Developmental cell 117 23867227
2013 The homeobox gene Otx2 in development and disease. Experimental eye research 112 23523800
1998 Otx1 and Otx2 in the development and evolution of the mammalian brain. The EMBO journal 112 9843484
2014 Otx2 and Oct4 drive early enhancer activation during embryonic stem cell transition from naive pluripotency. Cell reports 109 24931607
2011 An essential role for RAX homeoprotein and NOTCH-HES signaling in Otx2 expression in embryonic retinal photoreceptor cell fate determination. The Journal of neuroscience : the official journal of the Society for Neuroscience 109 22090505
2010 Otx2 controls neuron subtype identity in ventral tegmental area and antagonizes vulnerability to MPTP. Nature neuroscience 104 21057506
2001 Regionalisation of anterior neuroectoderm and its competence in responding to forebrain and midbrain inducing activities depend on mutual antagonism between OTX2 and GBX2. Development (Cambridge, England) 99 11731459
2013 The transcription factor Otx2 regulates choroid plexus development and function. Development (Cambridge, England) 97 23364326
2009 OTX2 is critical for the maintenance and progression of Shh-independent medulloblastomas. Cancer research 97 20028867
2000 The subcellular localization of Otx2 is cell-type specific and developmentally regulated in the mouse retina. Brain research. Molecular brain research 91 10891582
1999 Cell autonomous and non-cell autonomous functions of Otx2 in patterning the rostral brain. Development (Cambridge, England) 88 10477297
2008 Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression. Proceedings of the National Academy of Sciences of the United States of America 85 18385377
2015 Lhx1 functions together with Otx2, Foxa2, and Ldb1 to govern anterior mesendoderm, node, and midline development. Genes & development 84 26494787
2004 Regulation of Otx2 expression and its functions in mouse forebrain and midbrain. Development (Cambridge, England) 84 15201224
2008 Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Human mutation 82 18781617
2001 Neuroepithelial co-expression of Gbx2 and Otx2 precedes Fgf8 expression in the isthmic organizer. Mechanisms of development 82 11231064
2005 Emx2 and Pax6 function in cooperation with Otx2 and Otx1 to develop caudal forebrain primordium that includes future archipallium. The Journal of neuroscience : the official journal of the Society for Neuroscience 79 15917450
2011 OTX2 directly activates cell cycle genes and inhibits differentiation in medulloblastoma cells. International journal of cancer 78 21964830
1999 Functional equivalency between Otx2 and Otx1 in development of the rostral head. Development (Cambridge, England) 78 9895322
2000 The Otx2 homeoprotein regulates expression from the gonadotropin-releasing hormone proximal promoter. Molecular endocrinology (Baltimore, Md.) 71 10935548
2010 Otx2 expression is restricted to dopaminergic neurons of the ventral tegmental area in the adult brain. The International journal of developmental biology 69 19924631
2006 OTX1 and OTX2 expression correlates with the clinicopathologic classification of medulloblastomas. Journal of neuropathology and experimental neurology 66 16462208
2004 Regulation of Otx2 expression and its functions in mouse epiblast and anterior neuroectoderm. Development (Cambridge, England) 66 15201223
2001 Complementary functions of Otx2 and Cripto in initial patterning of mouse epiblast. Developmental biology 66 11412024
2014 OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness. The Journal of clinical investigation 64 24382353
2009 Differential CRX and OTX2 expression in human retina and retinoblastoma. Journal of neurochemistry 64 19686387
2013 Loss of Otx2 in the adult retina disrupts retinal pigment epithelium function, causing photoreceptor degeneration. The Journal of neuroscience : the official journal of the Society for Neuroscience 63 23761884
2010 Expression of the homeobox genes OTX2 and OTX1 in the early developing human brain. The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 60 20354145
2020 Functional and Evolutionary Diversification of Otx2 and Crx in Vertebrate Retinal Photoreceptor and Bipolar Cell Development. Cell reports 59 31968244
2018 OTX2 restricts entry to the mouse germline. Nature 59 30283136
2017 Genetic Otx2 mis-localization delays critical period plasticity across brain regions. Molecular psychiatry 59 28194008
2017 OTX2 Activity at Distal Regulatory Elements Shapes the Chromatin Landscape of Group 3 Medulloblastoma. Cancer discovery 59 28213356
2007 Otx1l, Otx2 and Irx1b establish and position the ZLI in the diencephalon. Development (Cambridge, England) 58 17670791
2016 Loss of the Otx2-Binding Site in the Nanog Promoter Affects the Integrity of Embryonic Stem Cell Subtypes and Specification of Inner Cell Mass-Derived Epiblast. Cell reports 57 27292645
2005 Specification of the meso-isthmo-cerebellar region: the Otx2/Gbx2 boundary. Brain research. Brain research reviews 57 16111544
2011 Identification of a retina-specific Otx2 enhancer element active in immature developing photoreceptors. Developmental biology 56 21963459
2000 OTX2 directly interacts with LIM1 and HNF-3beta. Biochemical and biophysical research communications 55 10623575
2006 Otx2 controls identity and fate of glutamatergic progenitors of the thalamus by repressing GABAergic differentiation. The Journal of neuroscience : the official journal of the Society for Neuroscience 53 16738237
2004 Otx2 homeobox gene induces photoreceptor-specific phenotypes in cells derived from adult iris and ciliary tissue. Investigative ophthalmology & visual science 53 15557469
2009 From brain formation to plasticity: insights on Otx2 homeoprotein. Development, growth & differentiation 51 19298552
2014 Otx2 ChIP-seq reveals unique and redundant functions in the mature mouse retina. PloS one 50 24558479
2010 Otx2 gene deletion in adult mouse retina induces rapid RPE dystrophy and slow photoreceptor degeneration. PloS one 50 20657788
2012 OTX2 mutations contribute to the otocephaly-dysgnathia complex. Journal of medical genetics 49 22577225
2007 Ontogenetic expression of the Otx2 and Crx homeobox genes in the retina of the rat. Experimental eye research 49 17467693
2020 Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells. The Journal of clinical investigation 48 31845906
2019 OTX2 Signals from the Choroid Plexus to Regulate Adult Neurogenesis. eNeuro 45 31064838
2018 Methylation in OTX2 and related genes, maltreatment, and depression in children. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 44 30089883
2004 Involvement of Pax6 and Otx2 in the forebrain-specific regulation of the vertebrate homeobox gene ANF/Hesx1. Developmental biology 42 15110720
2016 Activated monocytes resist elimination by retinal pigment epithelium and downregulate their OTX2 expression via TNF-α. Aging cell 41 27660103
2014 OTX2 duplication is implicated in hemifacial microsomia. PloS one 41 24816892
2012 MiR-206 regulates neural cells proliferation and apoptosis via Otx2. Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 41 22508046
2014 Deletion of OTX2 in neural ectoderm delays anterior pituitary development. Human molecular genetics 39 25315894
1999 Binding properties of the human homeodomain protein OTX2 to a DNA target sequence. FEBS letters 39 10069392
2010 Regulation of cell cycle genes and induction of senescence by overexpression of OTX2 in medulloblastoma cell lines. Molecular cancer research : MCR 38 21047732
2020 OTX2 represses sister cell fate choices in the developing retina to promote photoreceptor specification. eLife 36 32347797
2019 Non-cell Autonomous OTX2 Homeoprotein Regulates Visual Cortex Plasticity Through Gadd45b/g. Cerebral cortex (New York, N.Y. : 1991) 36 29771284
2017 Nitric oxide regulates homeoprotein OTX1 and OTX2 expression in the rat myenteric plexus after intestinal ischemia-reperfusion injury. American journal of physiology. Gastrointestinal and liver physiology 36 28154013
2009 Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 35 19414065
2003 OTX2 regulates expression of DOPAchrome tautomerase in human retinal pigment epithelium. Biochemical and biophysical research communications 35 12559959
2020 Cell type- and stage-specific expression of Otx2 is regulated by multiple transcription factors and cis-regulatory modules in the retina. Development (Cambridge, England) 34 32631829
2013 Graded Otx2 activities demonstrate dose-sensitive eye and retina phenotypes. Human molecular genetics 34 24234651
2012 OTX2 represses myogenic and neuronal differentiation in medulloblastoma cells. Cancer research 34 22986744
2003 New Otx2 mRNA isoforms expressed in the mouse brain. Journal of neurochemistry 34 12562527
2001 Otx2 and HNF3beta genetically interact in anterior patterning. The International journal of developmental biology 34 11291866
2001 Downstream of Otx2, or how to get a head. Trends in genetics : TIG 34 11672863
2001 OTD/OTX2 functional equivalence depends on 5' and 3' UTR-mediated control of Otx2 mRNA for nucleo-cytoplasmic export and epiblast-restricted translation. Development (Cambridge, England) 34 11731460
2017 OTX2 expression contributes to proliferation and progression in Myc-amplified medulloblastoma. American journal of cancer research 33 28401018
2004 Otx2, Gbx2, and Fgf8 expression patterns in the chick developing inner ear and their possible roles in otic specification and early innervation. Gene expression patterns : GEP 33 15465488
2010 The role of otx2 in adult mesencephalic-diencephalic dopaminergic neurons. Molecular neurobiology 32 21086067
2002 Gbx2 interacts with Otx2 and patterns the anterior-posterior axis during gastrulation in Xenopus. Mechanisms of development 30 11850185
2014 Head formation: OTX2 regulates Dkk1 and Lhx1 activity in the anterior mesendoderm. Development (Cambridge, England) 29 25231759
2001 otx2 expression in the ectoderm activates anterior neural determination and is required for Xenopus cement gland formation. Developmental biology 29 11784058
2018 Metastatic group 3 medulloblastoma is driven by PRUNE1 targeting NME1-TGF-β-OTX2-SNAIL via PTEN inhibition. Brain : a journal of neurology 28 29490009
2022 Brevican, Neurocan, Tenascin-C, and Tenascin-R Act as Important Regulators of the Interplay Between Perineuronal Nets, Synaptic Integrity, Inhibitory Interneurons, and Otx2. Frontiers in cell and developmental biology 27 35721494
2021 The phenotypic spectrum associated with OTX2 mutations in humans. European journal of endocrinology 27 33950863
2020 An OTX2-PAX3 signaling axis regulates Group 3 medulloblastoma cell fate. Nature communications 27 32686664
2017 Functional Antagonism between OTX2 and NANOG Specifies a Spectrum of Heterogeneous Identities in Embryonic Stem Cells. Stem cell reports 27 29056334
2016 Hmga2 is necessary for Otx2-dependent exit of embryonic stem cells from the pluripotent ground state. BMC biology 26 27036552
2013 Gene dosage of Otx2 is important for fertility in male mice. Molecular and cellular endocrinology 25 23811236
2005 Downregulation of Otx2 in the dedifferentiated RPE cells of regenerating newt retina. Brain research. Developmental brain research 25 15763275
2021 Initiation of Otx2 expression in the developing mouse retina requires a unique enhancer and either Ascl1 or Neurog2 activity. Development (Cambridge, England) 24 34143204
2017 Otx2-Genetically Modified Retinal Pigment Epithelial Cells Rescue Photoreceptors after Transplantation. Molecular therapy : the journal of the American Society of Gene Therapy 24 28988713
2012 Gbx2 directly restricts Otx2 expression to forebrain and midbrain, competing with class III POU factors. Molecular and cellular biology 24 22566684

Missed literature

Know a paper Affinage missed for OTX2? Flag it for the maintainers and the community.

No submissions yet.