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Orthodenticle homeobox 2

PDB rendering based on 2dms.
Available structures
Symbols OTX2; MCOPS5; MGC45000
External IDs OMIM600037 MGI97451 HomoloGene11026 GeneCards: OTX2 Gene
RNA expression pattern
PBB GE OTX2 gnf1h00384 at tn.png
More reference expression data
Species Human Mouse
Entrez 5015 18424
Ensembl ENSG00000165588 ENSMUSG00000021848
UniProt P32243 Q8R0B5
RefSeq (mRNA) NM_021728 NM_144841
RefSeq (protein) NP_068374 NP_659090
Location (UCSC) Chr 14:
56.34 - 56.35 Mb
Chr 14:
47.58 - 47.59 Mb
PubMed search [1] [2]

Homeobox protein OTX2 is a protein that in humans is encoded by the OTX2 gene.[1][2]

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.[2]

Mutations in OTX2 can cause eye disorders including anophthalmia and microphthalmia.[3]


  1. ^ Kastury K, Druck T, Huebner K, Barletta C, Acampora D, Simeone A, Faiella A, Boncinelli E (Dec 1994). "Chromosome locations of human EMX and OTX genes". Genomics 22 (1): 41-5. doi:10.1006/geno.1994.1343. PMID 7959790.  
  2. ^ a b "Entrez Gene: OTX2 orthodenticle homeobox 2".  
  3. ^ Verma AS, Fitzpatrick DR (2007). "Anophthalmia and microphthalmia". Orphanet J Rare Dis 2: 47. doi:10.1186/1750-1172-2-47. PMID 18039390.  

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.  
  • 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.  
  • 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. doi:10.1073/pnas.95.7.3737. PMID 9520436.  
  • 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. doi:10.1016/S0925-4773(98)00162-2. PMID 10354480.  
  • 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. doi:10.1076/ceyr. 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.  
  • 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.  
  • 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. doi:10.1016/S0006-291X(02)02934-0. PMID 12559959.  
  • 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.  
  • 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.  
  • 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.  
  • Boon K, Eberhart CG, Riggins GJ (2005). "Genomic amplification of orthodenticle homologue 2 in medulloblastomas.". Cancer Res. 65 (3): 703–7. PMID 15705863.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  

External links

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



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