| orthodenticle homeobox 2 | OKDB#: 3106 |
| Symbols: | OTX2 | Species: | human | ||
| Synonyms: | CPHD6, MCOPS5 | Locus: | 14q22.3 in Homo sapiens |
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| General Comment |
OTX2 restricts entry to the mouse germline
Jingchao Zhang, Man Zhang, Dario Acampora, Matúš Vojtek, Detian Yuan, Antonio Simeone & Ian Chambers
Nature (2018)
NCBI Summary: 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. [provided by RefSeq, Jul 2012] |
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| Ovarian localization | Oocyte | ||||
| Comment | The human cumulus-oocyte complex gene-expression profile. Assou S et al. BACKGROUND: The understanding of the mechanisms regulating human oocyte maturation is still rudimentary. We have identified transcripts differentially expressed between immature and mature oocytes and cumulus cells. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | June 20, 2006, 11:25 a.m. | by: |
Alex email:
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| last update: | Oct. 3, 2018, 1:30 p.m. | by: | hsueh email: |
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