Orthodenticle homeobox 2

Orthodenticle homeobox 2
File:PBB Protein OTX2 image.jpg PDB rendering based on 2dms.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 2dms​
Identifiers
Symbols	OTX2 ; MCOPS5; MGC45000
External IDs	Template:OMIM5 Template:MGI HomoloGene: 11026
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE OTX2 gnf1h00384 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Orthodenticle homeobox 2, also known as OTX2, is a human gene.

This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mice is required for proper forebrain development. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants may exist, but their full length sequences have not been determined.

Further reading

• Hever AM, Williamson KA, van Heyningen V (2007). "Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2". Clin. Genet. 69 (6): 459–70. doi:10.1111/j.1399-0004.2006.00619.x. PMID 16712695.CS1 maint: Multiple names: authors list (link)
• Kastury K, Druck T, Huebner K; et al. (1994). "Chromosome locations of human EMX and OTX genes". Genomics. 22 (1): 41–5. doi:10.1006/geno.1994.1343. PMID 7959790.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Simeone A, Acampora D, Mallamaci A; et al. (1993). "A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo". EMBO J. 12 (7): 2735–47. PMID 8101484.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nagao T, Leuzinger S, Acampora D; et al. (1998). "Developmental rescue of Drosophila cephalic defects by the human Otx genes". Proc. Natl. Acad. Sci. U.S.A. 95 (7): 3737–42. PMID 9520436.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bobola N, Briata P, Ilengo C; et al. (1999). "OTX2 homeodomain protein binds a DNA element necessary for interphotoreceptor retinoid binding protein gene expression". Mech. Dev. 82 (1–2): 165–9. PMID 10354480.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fong SL, Fong WB (1999). "Elements regulating the transcription of human interstitial retinoid-binding protein (IRBP) gene in cultured retinoblastoma cells". Curr. Eye Res. 18 (4): 283–91. PMID 10372988.
• Nakano T, Murata T, Matsuo I, Aizawa S (2000). "OTX2 directly interacts with LIM1 and HNF-3beta". Biochem. Biophys. Res. Commun. 267 (1): 64–70. doi:10.1006/bbrc.1999.1872. PMID 10623575.CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Takeda K, Yokoyama S, Yasumoto K; et al. (2003). "OTX2 regulates expression of DOPAchrome tautomerase in human retinal pigment epithelium". Biochem. Biophys. Res. Commun. 300 (4): 908–14. PMID 12559959.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Martínez-Morales JR, Dolez V, Rodrigo I; et al. (2003). "OTX2 activates the molecular network underlying retina pigment epithelium differentiation". J. Biol. Chem. 278 (24): 21721–31. doi:10.1074/jbc.M301708200. PMID 12663655.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Puelles E, Annino A, Tuorto F; et al. (2004). "Otx2 regulates the extent, identity and fate of neuronal progenitor domains in the ventral midbrain". Development. 131 (9): 2037–48. doi:10.1242/dev.01107. PMID 15105370.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Boon K, Eberhart CG, Riggins GJ (2005). "Genomic amplification of orthodenticle homologue 2 in medulloblastomas". Cancer Res. 65 (3): 703–7. PMID 15705863.CS1 maint: Multiple names: authors list (link)
• Di C, Liao S, Adamson DC; et al. (2005). "Identification of OTX2 as a medulloblastoma oncogene whose product can be targeted by all-trans retinoic acid". Cancer Res. 65 (3): 919–24. PMID 15705891.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ragge NK, Brown AG, Poloschek CM; et al. (2005). "Heterozygous mutations of OTX2 cause severe ocular malformations". Am. J. Hum. Genet. 76 (6): 1008–22. doi:10.1086/430721. PMID 15846561.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Brunet I, Weinl C, Piper M; et al. (2005). "The transcription factor Engrailed-2 guides retinal axons". Nature. 438 (7064): 94–8. doi:10.1038/nature04110. PMID 16267555.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chatelain G, Fossat N, Brun G, Lamonerie T (2007). "Molecular dissection reveals decreased activity and not dominant negative effect in human OTX2 mutants". J. Mol. Med. 84 (7): 604–15. doi:10.1007/s00109-006-0048-2. PMID 16607563.CS1 maint: Multiple names: authors list (link)
• Lim J, Hao T, Shaw C; et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Heimbucher T, Murko C, Bajoghli B; et al. (2007). "Gbx2 and Otx2 interact with the WD40 domain of Groucho/Tle corepressors". Mol. Cell. Biol. 27 (1): 340–51. doi:10.1128/MCB.00811-06. PMID 17060451.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• OTX2+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.