Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Otx2. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Otx2
  • participates in the following biological processes:
    • positive regulation of transcription from RNA polymerase II promoter ^[3]
    • regulation of transcription from RNA polymerase II promoter ^[15]
  • is located in the following cellular components:
    • cytoplasm ^[1]
    • nucleus ^{[1, 13]}
• The gene product of Otx2 has been shown to bind to the gene products of Tle4. ^[15] Researchers have inferred, based on physical interactions, that the gene product of Otx2
  • performs the following molecular functions:
    • protein heterodimerization activity ^[6]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Otx2
  • participates in the following biological processes:
    • anterior/posterior pattern specification ^{[2, 16]}
    • cell differentiation ^[12]
    • cell fate commitment ^[15]
    • cell fate specification ^[18]
    • central nervous system development ^{[10, 16]}
    • dorsal/ventral pattern formation ^[16]
    • eye photoreceptor cell fate commitment ^[12]
    • forebrain development ^{[9, 12]}
    • midbrain development ^{[9, 18]}
    • neuron differentiation ^[18]
    • neuron fate commitment ^[14]
    • organ morphogenesis ^[12]
    • positive regulation of embryonic development ^[7]
    • positive regulation of gastrulation ^[7]
    • positive regulation of transcription, DNA-dependent ^[7]
    • primitive streak formation ^[7]
    • somite rostral/caudal axis specification ^[7]
• Researchers have inferred, based on genetic interactions, that the gene product of Otx2
  • participates in the following biological processes:
    • anatomical structure development based on interactions with Cfc1 ^[4]
    • anterior/posterior pattern specification based on interactions with Cfc1 ^[4]
    • diencephalon morphogenesis based on interactions with Otx1 ^[17]
    • endoderm development based on interactions with Cfc1 ^[4]
    • forebrain development based on interactions with Emx2, Otx1 ^{[5, 9]}
    • inner ear morphogenesis based on interactions with Otx1 ^[11]
    • metencephalon development based on interactions with Otx1 ^[17]
    • midbrain development based on interactions with Otx1 ^{[8, 17]}
    • positive regulation of transcription from RNA polymerase II promoter based on interactions with Dmbx1 ^[6]
• Based on the experimental annotations above, MGI curators have inferred, that the gene product of Otx2
  • is located in the following cellular components:
    • nucleus ^[15]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Otx2:
  • participates in the following biological processes:
    • axon guidance
    • positive regulation of transcription from RNA polymerase II promoter
    • protein complex assembly
  • performs the following molecular functions:
    • RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
  • is located in the following cellular components:
    • growth cone
    • protein complex

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Summary text based on GO annotations supported by structural data

• Otx2 encodes a protein or proteins that contain the following InterPro domains: Homeobox, conserved site, Homeodomain, Homeodomain-like, Transcription factor Otx, Transcription factor Otx, C-terminal, Transcription factor Otx2, indicating that the gene product:
  • participates in the following biological processes:
    • multicellular organismal development
    • regulation of transcription, DNA-dependent
  • performs the following molecular functions:
    • DNA binding
    • sequence-specific DNA binding
    • sequence-specific DNA binding transcription factor activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Otx2 indicates that it:
  • participates in the following biological processes:
    • multicellular organismal development
  • performs the following molecular functions:
    • DNA binding

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References

1. Baas D et al. (2000) The subcellular localization of OTX2 is cell-type specific and developmentally regulated in the mouse retina Brain Res Mol Brain Res, 78:26-37. (PubMed:10891582)
2. Biben C et al. (1998) Murine cerberus homologue mCer-1: a candidate anterior patterning molecule. Dev Biol, 194:135-51. (PubMed:9501024)
3. Inoue T et al. (2006) Cloning and characterization of mr-s, a novel SAM domain protein, predominantly expressed in retinal photoreceptor cells. BMC Dev Biol, 6:15. (PubMed:16539743)
4. Kimura C et al. (2001) Complementary functions of Otx2 and Cripto in initial patterning of mouse epiblast. Dev Biol, 235:12-32. (PubMed:11412024)
5. Kimura J et al. (2005) Emx2 and Pax6 function in cooperation with Otx2 and Otx1 to develop caudal forebrain primordium that includes future archipallium. J Neurosci, 25:5097-108. (PubMed:15917450)
6. Kimura K et al. (2005) Functional analysis of transcriptional repressor Otx3/Dmbx1. FEBS Lett, 579:2926-32. (PubMed:15890343)
7. Kinder SJ et al. (2001) Defects of the body plan of mutant embryos lacking Lim1, Otx2 or Hnf3beta activity. Int J Dev Biol, 45:347-55. (PubMed:11291865)
8. Kurokawa D et al. (2004) Regulation of Otx2 expression and its functions in mouse forebrain and midbrain. Development, 131:3319-31. (PubMed:15201224)
9. Kurokawa D et al. (2004) Regulation of Otx2 expression and its functions in mouse epiblast and anterior neuroectoderm. Development, 131:3307-17. (PubMed:15201223)
10. Martinez-Barbera JP et al. (2001) Regionalisation of anterior neuroectoderm and its competence in responding to forebrain and midbrain inducing activities depend on mutual antagonism between OTX2 and GBX2. Development, 128:4789-800. (PubMed:11731459)
11. Morsli H et al. (1999) Otx1 and Otx2 activities are required for the normal development of the mouse inner ear. Development, 126:2335-43. (PubMed:10225993)
12. Nishida A et al. (2003) Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development. Nat Neurosci, 6:1255-63. (PubMed:14625556)
13. Nishiyama A et al. (2009) Uncovering early response of gene regulatory networks in ESCs by systematic induction of transcription factors. Cell Stem Cell, 5:420-33. (PubMed:19796622)
14. Prakash N et al. (2006) A Wnt1-regulated genetic network controls the identity and fate of midbrain-dopaminergic progenitors in vivo. Development, 133:89-98. (PubMed:16339193)
15. Puelles E et al. (2004) Otx2 regulates the extent, identity and fate of neuronal progenitor domains in the ventral midbrain. Development, 131:2037-48. (PubMed:15105370)
16. Puelles E et al. (2003) Otx dose-dependent integrated control of antero-posterior and dorso-ventral patterning of midbrain. Nat Neurosci, 6:453-60. (PubMed:12652306)
17. Sakurai Y et al. (2010) Otx2 and Otx1 protect diencephalon and mesencephalon from caudalization into metencephalon during early brain regionalization. Dev Biol, 347:392-403. (PubMed:20816794)
18. Vernay B et al. (2005) Otx2 regulates subtype specification and neurogenesis in the midbrain. J Neurosci, 25:4856-67. (PubMed:15888661)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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