Otx2 is a group of homeobox genes that are typically described as a head organizer in the primitive streak stage of embryonic development. Otx2, which is an encoded protein that plays the role of a transcription factor, has also been shown to be involved in the regional patterning of the midbrain and forebrain.

2024年12月25日 · OTX2 (Orthodenticle Homeobox 2) is a Protein Coding gene. Diseases associated with OTX2 include Microphthalmia, Syndromic 5 and Pituitary Hormone Deficiency, Combined, 6. Among its related pathways are Gastrulation and Nervous system development.

2014年6月26日 · The transcription factor Otx2 plays an important role in neural development and in the exit of embryonic stem cells from the pluripotent ground state. In this study, Yang et al. demonstrate that Otx2 drives enhancer activation and maintenance during the early cell-fate transition away from ground state pluripotency.

2013年6月1日 · The Otx2 homeobox gene is one of the most important genes for forebrain induction and head formation in vertebrates. In mouse embryo, Otx2 is already transcribed from the embryonic morula stage, and in the murine blastula, …

The OTX2 gene provides instructions for producing a protein that regulates the activity of other genes. On the basis of this action, the OTX2 protein is called a transcription factor. The OTX2 gene is part of a family of homeobox genes, which act during early embryonic development to control the formation of many body structures.

2023年2月27日 · Here, we discover an unconventional nuclear export of the TF, orthodenticle homeobox 2 (OTX2), in nuclear budding vesicles, which transport OTX2 to the lysosome. We further find that torsin1a...

2021年5月7日 · Here, we investigated the consequences of reduced OTX2 levels in Otx2 heterozygote mice, as well as in Otx2+/AA and scFvOtx2tg/0 mouse models for decreasing OTX2 transfer from choroid...

The Otx2 gene encodes a transcription factor essential for the normal development of brain, cerebellum, pineal gland, and eye. In the retina, Otx2 has essential functions from early embryogenesis to adulthood. As soon as the optic vesicle is formed, the gene is required for retinal pigment epitheliu …

OTX2 mutation is a cause of combined pituitary hormone deficiency (CPHD). OTR1, OTX2 and CRX act as positive modulators of the BEST1 promoter in the retinal pigment epithelium. A novel mutation in OTX2 binds normally to target genes and acts as a dominant negative inhibitor of HESX1 gene expression in combined pituittary hormone deficiency.

该基因的突变会导致综合征性小眼症 5 (MCOPS5) 和垂体激素联合缺乏症 6 (CPHD6) 。 该基因也被怀疑在髓母细胞瘤中具有致癌作用。 可变剪接导致编码不同异构体的多个转录变体。 已知该基因的假基因存在于二号和九号染色体上。 [RefSeq 提供，2012 年 7 月] This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors.