Recombinant Human Homeobox protein OTX2 (OTX2)

1. This second report of maculopathy associated with a heterozygous mutation in OTX2 confirms that mutations in OTX2 should be considered in the differential diagnosis of atypical hereditary maculopathy, with or without rod-cone dystrophy. PMID: 29204067
2. OTX2 acts as a pioneer factor and, in cooperation with NEUROD1, controls the group 3 medulloblastoma active enhancer landscape. PMID: 28213356
3. Syndromic microphthalmia due to mutations in OTX2 can present with significant intrafamilial phenotypic variability. PMID: 28388256
4. We report a rare case of inherited 14q22.3 deletion in a very large family presenting with variable features of eye abnormalities (microphthalmia, anophthalmia and peripapillary pigmentation), pituitary anomalies, and learning difficulties. PMID: 26860946
5. Our data refine the clinical spectrum associated with OTX2 mutations and suggests that OTX2 haploinsufficiency should be considered as a possible cause for isolated mandibular dysostosis. PMID: 27378064
6. One subgroup of atypical teratoid rhabdoid tumors was characterized by high expression of OTX2. PMID: 28025236
7. TNF-alpha, secreted from activated Monocytes, mediates the downregulation of OTX2 and essential retinal pigment epithelium genes. PMID: 27660103
8. OTX2 gene frameshift mutation is associated with microphthalmia, ectopic pituitary and growth hormone deficiency. PMID: 26974134
9. OTX2 mutations can cause ACTH deficiency in the neonatal period. Study also shows that OTX2 mutations are associated with agenesis of the Left Internal Carotid Artery. PMID: 27299576
10. A novel pathogenic variant in OTX2, c.651delC, p.(Thr218Hisfs*76) identified in a patient with syndromic bilateral anophthalmia . PMID: 26130484
11. demonstrated the role of OTX2 on TAp63 regulation necessary for the correct formation of macular neuroepithelium PMID: 26554466
12. A novel role for OTX2 in self-renewal and migration of human embryonic neural precursors and Medulloblastoma cells, is reported. PMID: 26398939
13. We showed that miR-410 directly regulates predicted target genes OTX2 and RPE65. PMID: 25351180
14. This epigenome-wide DNA methylation analysis in postmortem hippocampus and prefrontal cortex specimens confirmed OTX2 DNA methylation profiles in major depression PMID: 25571874
15. OTX2 overexpression is associated with medulloblastoma. PMID: 25198066
16. SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia PMID: 25542770
17. Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2. PMID: 25589041
18. OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. PMID: 25293953
19. Endogenous OTX2 from a medulloblastoma cell line is O-GlcNAcylated at several sites. PMID: 24580054
20. a role for OTX2 dosage sensitivity in human craniofacial development PMID: 24816892
21. VEGF-A, Otx2 homeobox and p53 family genes are expressed in proliferative vitreoretinopathy PMID: 24227910
22. OTX2 gene duplication is associated with autosomal dominant oculoauriculovertebral syndrome. PMID: 23794319
23. This study showed that OTX2 sustains a bivalent-like state of OTX2-bound promoters in medulloblastoma by maintaining their H3K27me3 levels. PMID: 23179372
24. Otx2c is a novel alternative splicing variant of Otx2 gene and it is tightly regulated during the differentiation process demonstrating that it may have a potential role in embryonic stem cell maintenance and differentiation. PMID: 23566845
25. OTX2 functions via its homeobox domain as a suppressor of differentiation, and the loss of OTX2 expression is linked to the myogenesis in medullomyoblastoma. PMID: 22986744
26. This study reports a large family in which two cousins with micro/anophthalmia each gave birth to at least one child with otocephaly. The study subsequently identified in one unrelated otocephalic patient a sporadic OTX2 mutation. PMID: 22577225
27. We have identified a novel mutation of the OTX2 gene in a Han Chinese family featuring various anophthalmia and microphthalmia phenotypes. PMID: 22268617
28. A novel missense heterozygous OTX2 mutation acts as a dominant negative inhibitor of target gene expression in a patient with combined pituitary hormone deficiency (CPHD), pituitary malformation, and optic nerve hypoplasia. PMID: 22715480
29. MiR-206 regulates Otx2 expression in glioma and neuroblastoma cell lines. PMID: 22508046
30. silencing of OTX2 inhibited cell proliferation and resulted in a neuronal-like differentiation; downregulated genes were enriched for cycle and visual perception genes; upregulated genes were enriched for genes involved development and differentiation PMID: 21964830
31. There is no genotype-phenotype correlation and the severity of the disease varies not only by the specific OTX2 mutations but also among individuals harboring the same mutation, suggesting the involvement of multiple levels of regulation. PMID: 22783640
32. these findings emphasize the role of OTX2 in regulating the human TYR gene, with implications for inter-individual differences in melanin synthesis, retinal development, and function as well as susceptibility to retinal degeneration associated with aging. PMID: 22259223
33. Mutation analysis was performed after sequencing the entire coding regions of OTX2 and PRRX1 genes isolated from the proband and his parents. After thorough analysis, no DNA variations were detected PMID: 22198066
34. The OTX2 mutation in c.313C > T causing p.Gln105X and a premature stop codon is consistent with the loss of function mutations observed in A/M patients. PMID: 22204637
35. OTX2 directly induces a series of cell cycle genes but requires cooperating genes for an oncogenic acceleration of the cell cycle. PMID: 21047732
36. This high frequency of causal submicroscopic chromosomal aberrations in patients with congenital ocular malformation warrants implementation of array comparative genomic hybridization in the diagnostic work-up of these patients. PMID: 21353197
37. Four of the five OTX2-positive anophthalmia/microphthalmia patients in our study displayed additional systemic findings, including two novel features, Wolf-Parkinson-White syndrome and an anteriorly placed anus PMID: 20486942
38. Otx2 is required to specify neuron subtype in ventral tegmental area and confers resistance to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-HCl (MPTP) poisoning. PMID: 21057506
39. SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epithelium. PMID: 20530484
40. OTX2 overexpression protects dopaminergic neurons in ventral mesencephalic cultures from Parkinson's disease-relevant toxin, 1-methyl-4-phenylpyridinium, whereas OTX2 downregulation using short hairpin RNA increases their susceptibility. PMID: 20573704
41. The early expression of OTX2 in proliferative cell layers of the human fetal brain supports the concept that this homeobox gene is important in neuronal cell development and differentiation. PMID: 20354145
42. A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. PMID: 20396904
43. OTX2 mutations are associated with variable pituitary phenotype, with no genotype-phenotype correlations, and that OTX2 can transactivate GNRH1 as well as HESX1 and POU1F1. PMID: 19965921
44. Our findings define OTX2 as an important oncogenic driver in medulloblastoma. PMID: 20028867
45. Data suggest that OTX2 may regulate retinal pigment epithelium (RPE)-specific target genes, such as DOPAchrome tautomerase (DCT), thereby maintaining the homeostasis of RPE. PMID: 12559959
46. OTX2 functions to specify the fate of neuroectoderm in various regions of the developing brain. This developmental role is consistent with the evidence suggesting that OTX2 is a medulloblastoma oncogene. PMID: 15705863
47. Gene expression analyses showed that OTX2 transcripts were present at high levels in 14 of 15 (93%) medulloblastomas with anaplastic histopathologic features. PMID: 15705891
48. Heterozygous mutations of OTX2 cause severe ocular malformations. PMID: 15846561
49. Molecular diagnostic of human mutant OTX2 proteins discriminates hypomorphic and loss of function mutations from other mutations that may not be relevant to ocular pathology PMID: 16607563
50. This review describes how cross regulation for PAX6, SOX2 and perhaps OTX2 has now been uncovered, pointing to the mechanisms that can fine-tune the expression of three such essential components in eye development. PMID: 16712695

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HGNC: 8522

OMIM: 600037

KEGG: hsa:5015

STRING: 9606.ENSP00000343819

UniGene: Hs.288655