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Gene Ontology Classifications
Symbol
Name
ID
Pax6
paired box 6
MGI:97490

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

GO curators for mouse genes have assigned the following annotations to the gene product of Pax6. (This text reflects annotations as of Thursday, July 24, 2014.)
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text for additional MGI annotations
References
  1. . () , :. (PubMed:)
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  26. Kim J et al. (2006) Analysis of Pax6 expression using a BAC transgene reveals the presence of a paired-less isoform of Pax6 in the eye and olfactory bulb. Dev Biol, 292:486-505. (PubMed:16464444)
  27. 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)
  28. Kioussi C et al. (1999) Pax6 is essential for establishing ventral-dorsal cell boundaries in pituitary gland development. Proc Natl Acad Sci U S A, 96:14378-82. (PubMed:10588713)
  29. Kredo-Russo S et al. (2012) Pancreas-enriched miRNA refines endocrine cell differentiation. Development, 139:3021-31. (PubMed:22764048)
  30. Kroll TT et al. (2005) Ventralized dorsal telencephalic progenitors in Pax6 mutant mice generate GABA interneurons of a lateral ganglionic eminence fate. Proc Natl Acad Sci U S A, 102:7374-9. (PubMed:15878992)
  31. Lee D et al. (2008) ER71 acts downstream of BMP, Notch, and Wnt signaling in blood and vessel progenitor specification. Cell Stem Cell, 2:497-507. (PubMed:18462699)
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  33. Li H et al. (2006) Potential target genes of EMX2 include Odz/Ten-M and other gene families with implications for cortical patterning. Mol Cell Neurosci, 33:136-49. (PubMed:16919471)
  34. Lyon MF et al. (2000) Further genetic analysis of two autosomal dominant mouse eye defects, ccw and Pax6-coop Mol Vis, 6:199-203. (PubMed:11062307)
  35. Makarenkova HP et al. (2000) FGF10 is an inducer and Pax6 a competence factor for lacrimal gland development. Development, 127:2563-72. (PubMed:10821755)
  36. Marakalala MJ et al. (2013) Differential adaptation of Candida albicans in vivo modulates immune recognition by dectin-1. PLoS Pathog, 9:e1003315. (PubMed:23637604)
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  38. Mi D et al. (2013) Pax6 exerts regional control of cortical progenitor proliferation via direct repression of Cdk6 and hypophosphorylation of pRb. Neuron, 78:269-84. (PubMed:23622063)
  39. Mui SH et al. (2005) Vax genes ventralize the embryonic eye. Genes Dev, 19:1249-59. (PubMed:15905411)
  40. Muzio L et al. (2003) Emx1, emx2 and pax6 in specification, regionalization and arealization of the cerebral cortex. Cereb Cortex, 13:641-7. (PubMed:12764040)
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  43. Okado H et al. (2009) The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex. Dev Biol, 331:140-51. (PubMed:19409883)
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  46. Ramaesh T et al. (2005) Developmental and cellular factors underlying corneal epithelial dysgenesis in the Pax6(+/-) mouse model of aniridia. Exp Eye Res, 81:224-235. (PubMed:16080917)
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  48. Schuurmans C et al. (2004) Sequential phases of cortical specification involve Neurogenin-dependent and -independent pathways. EMBO J, 23:2892-902. (PubMed:15229646)
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  50. Stoykova A et al. (2000) Pax6 modulates the dorsoventral patterning of the mammalian telencephalon J Neurosci, 20:8042-50. (PubMed:11050125)
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  52. Tetreault N et al. (2009) The LIM homeobox transcription factor Lhx2 is required to specify the retina field and synergistically cooperates with Pax6 for Six6 trans-activation. Dev Biol, 327:541-50. (PubMed:19146846)
  53. Tole S et al. (2005) Selective requirement of Pax6, but not Emx2, in the specification and development of several nuclei of the amygdaloid complex. J Neurosci, 25:2753-60. (PubMed:15758185)
  54. Tucker ES et al. (2008) Molecular specification and patterning of progenitor cells in the lateral and medial ganglionic eminences. J Neurosci, 28:9504-18. (PubMed:18799682)
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  56. Tuoc TC et al. (2008) Trim11 modulates the function of neurogenic transcription factor Pax6 through ubiquitin-proteosome system. Genes Dev, 22:1972-86. (PubMed:18628401)
  57. Wen J et al. (2008) Pax6 directly modulate Sox2 expression in the neural progenitor cells. Neuroreport, 19:413-7. (PubMed:18287938)
  58. Wissmuller S et al. (2006) The high-mobility-group domain of Sox proteins interacts with DNA-binding domains of many transcription factors. Nucleic Acids Res, 34:1735-44. (PubMed:16582099)
  59. Wolf LV et al. (2001) Coordinated expression of Hoxa2, Hoxd1 and Pax6 in the developing diencephalon. Neuroreport, 12:329-33. (PubMed:11209945)
  60. Yan Q et al. (2010) Sumoylation activates the transcriptional activity of Pax-6, an important transcription factor for eye and brain development. Proc Natl Acad Sci U S A, 107:21034-9. (PubMed:21084637)
  61. Yang Y et al. (2006) Regulation of alphaA-crystallin via Pax6, c-Maf, CREB and a broad domain of lens-specific chromatin. EMBO J, 25:2107-18. (PubMed:16675956)
  62. Yun K et al. (2001) Gsh2 and Pax6 play complementary roles in dorsoventral patterning of the mammalian telencephalon. Development, 128:193-205. (PubMed:11124115)
  63. Zhang X et al. (2002) Meis homeoproteins directly regulate Pax6 during vertebrate lens morphogenesis. Genes Dev, 16:2097-107. (PubMed:12183364)
  64. Zhu CC et al. (2002) Six3-mediated auto repression and eye development requires its interaction with members of the Groucho-related family of co-repressors. Development, 129:2835-49. (PubMed:12050133)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


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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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory