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Gene Ontology Classifications
paired box 6

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 Tuesday, May 26, 2015.)
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
  1. Andrews GL et al. (2003) R-cadherin is a Pax6-regulated, growth-promoting cue for pioneer axons. J Neurosci, 23:9873-80. (PubMed:14586016)
  2. Asami M et al. (2011) The role of Pax6 in regulating the orientation and mode of cell division of progenitors in the mouse cerebral cortex. Development, 138:5067-78. (PubMed:22031545)
  3. Ashery-Padan R et al. (2000) Pax6 activity in the lens primordium is required for lens formation and for correct placement of a single retina in the eye Genes Dev, 14:2701-11. (PubMed:11069887)
  4. Baumer N et al. (2003) Retinal pigmented epithelium determination requires the redundant activities of Pax2 and Pax6. Development, 130:2903-15. (PubMed:12756174)
  5. Bishop KM et al. (2002) Distinct actions of Emx1, Emx2, and Pax6 in regulating the specification of areas in the developing neocortex. J Neurosci, 22:7627-38. (PubMed:12196586)
  6. Carney RS et al. (2009) Differential regulation of telencephalic pallial-subpallial boundary patterning by pax6 and gsh2. Cereb Cortex, 19:745-59. (PubMed:18701439)
  7. Chen Y et al. (2008) Cited2 is required for the proper formation of the hyaloid vasculature and for lens morphogenesis. Development, 135:2939-48. (PubMed:18653562)
  8. Cho A et al. (2008) FKBP8 cell-autonomously controls neural tube patterning through a Gli2- and Kif3a-dependent mechanism. Dev Biol, 321:27-39. (PubMed:18590716)
  9. Chu K et al. (2005) Neuronatin, a downstream target of BETA2/NeuroD1 in the pancreas, is involved in glucose-mediated insulin secretion. Diabetes, 54:1064-73. (PubMed:15793245)
  10. Collinson JM et al. (2003) The roles of Pax6 in the cornea, retina, and olfactory epithelium of the developing mouse embryo. Dev Biol, 255:303-12. (PubMed:12648492)
  11. Cooper ST et al. (2005) A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11. BMC Genet, 6:43. (PubMed:16098226)
  12. Elsen GE et al. (2013) The protomap is propagated to cortical plate neurons through an Eomes-dependent intermediate map. Proc Natl Acad Sci U S A, 110:4081-6. (PubMed:23431145)
  13. Engelkamp D et al. (1999) Role of Pax6 in development of the cerebellar system. Development, 126:3585-96. (PubMed:10409504)
  14. Ericson J et al. (1997) Pax6 controls progenitor cell identity and neuronal fate in response to graded Shh signaling. Cell, 90:169-80. (PubMed:9230312)
  15. Favor J. (1983) A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea. Mutat Res, 110:367-82. (PubMed:6877261)
  16. Genethliou N et al. (2009) Spatially distinct functions of PAX6 and NKX2.2 during gliogenesis in the ventral spinal cord. Biochem Biophys Res Commun, 382:69-73. (PubMed:19258013)
  17. Gosmain Y et al. (2010) Pax6 controls the expression of critical genes involved in pancreatic {alpha} cell differentiation and function. J Biol Chem, 285:33381-93. (PubMed:20592023)
  18. Goudreau G et al. (2002) Mutually regulated expression of Pax6 and Six3 and its implications for the Pax6 haploinsufficient lens phenotype. Proc Natl Acad Sci U S A, 99:8719-24. (PubMed:12072567)
  19. Grocott T et al. (2007) The MH1 domain of Smad3 interacts with Pax6 and represses autoregulation of the Pax6 P1 promoter. Nucleic Acids Res, 35:890-901. (PubMed:17251190)
  20. Haubst N et al. (2004) Molecular dissection of Pax6 function: the specific roles of the paired domain and homeodomain in brain development. Development, 131:6131-40. (PubMed:15548580)
  21. Heller RS et al. (2004) The role of Brn4/Pou3f4 and Pax6 in forming the pancreatic glucagon cell identity. Dev Biol, 268:123-34. (PubMed:15031110)
  22. Hevner RF et al. (2002) Cortical and thalamic axon pathfinding defects in Tbr1, Gbx2, and Pax6 mutant mice: Evidence that cortical and thalamic axons interact and guide each other. J Comp Neurol, 447:8-17. (PubMed:11967891)
  23. Itoh Y et al. (2013) Scratch regulates neuronal migration onset via an epithelial-mesenchymal transition-like mechanism. Nat Neurosci, 16:416-25. (PubMed:23434913)
  24. Jaskoll T et al. (2002) Embryonic Submandibular Gland Morphogenesis: Stage-Specific Protein Localization of FGFs, BMPs, Pax6 and Pax9 in Normal Mice and Abnormal SMG Phenotypes in FgfR2-IIIc(+/Delta), BMP7(-/-) and Pax6(-/-) Mice. Cells Tissues Organs, 170:83-98. (PubMed:11731698)
  25. Kim BJ et al. (2014) Mouse model reveals the role of RERE in cerebellar foliation and the migration and maturation of Purkinje cells. PLoS One, 9:e87518. (PubMed:24466353)
  26. Kim EA et al. (2006) Phosphorylation and transactivation of Pax6 by homeodomain-interacting protein kinase 2. J Biol Chem, 281:7489-97. (PubMed:16407227)
  27. 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)
  28. 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)
  29. 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)
  30. Kredo-Russo S et al. (2012) Pancreas-enriched miRNA refines endocrine cell differentiation. Development, 139:3021-31. (PubMed:22764048)
  31. 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)
  32. 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)
  33. Lei Q et al. (2006) Wnt signaling inhibitors regulate the transcriptional response to morphogenetic Shh-Gli signaling in the neural tube. Dev Cell, 11:325-37. (PubMed:16950124)
  34. 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)
  35. 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)
  36. Makarenkova HP et al. (2000) FGF10 is an inducer and Pax6 a competence factor for lacrimal gland development. Development, 127:2563-72. (PubMed:10821755)
  37. Marakalala MJ et al. (2013) Differential adaptation of Candida albicans in vivo modulates immune recognition by dectin-1. PLoS Pathog, 9:e1003315. (PubMed:23637604)
  38. Mastick GS et al. (1997) Pax-6 functions in boundary formation and axon guidance in the embryonic mouse forebrain. Development, 124:1985-97. (PubMed:9169845)
  39. 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)
  40. Mui SH et al. (2005) Vax genes ventralize the embryonic eye. Genes Dev, 19:1249-59. (PubMed:15905411)
  41. 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)
  42. Nishida A et al. (2003) Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development. Nat Neurosci, 6:1255-63. (PubMed:14625556)
  43. Nural HF et al. (2004) Pax6 guides a relay of pioneer longitudinal axons in the embryonic mouse forebrain. J Comp Neurol, 479:399-409. (PubMed:15514979)
  44. 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)
  45. Pinto L et al. (2009) AP2gamma regulates basal progenitor fate in a region- and layer-specific manner in the developing cortex. Nat Neurosci, 12:1229-37. (PubMed:19749747)
  46. Purcell P et al. (2005) Pax6-dependence of Six3, Eya1 and Dach1 expression during lens and nasal placode induction. Gene Expr Patterns, 6:110-8. (PubMed:16024294)
  47. 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)
  48. Sansom SN et al. (2009) The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis. PLoS Genet, 5:e1000511. (PubMed:19521500)
  49. Schuurmans C et al. (2004) Sequential phases of cortical specification involve Neurogenin-dependent and -independent pathways. EMBO J, 23:2892-902. (PubMed:15229646)
  50. Sharp P et al. (2006) Heat shock protein 27 rescues motor neurons following nerve injury and preserves muscle function. Exp Neurol, 198:511-8. (PubMed:16497297)
  51. Shimozaki K et al. (2013) Paired related homeobox protein 1 is a regulator of stemness in adult neural stem/progenitor cells. J Neurosci, 33:4066-75. (PubMed:23447615)
  52. Stoykova A et al. (2000) Pax6 modulates the dorsoventral patterning of the mammalian telencephalon J Neurosci, 20:8042-50. (PubMed:11050125)
  53. Sun T et al. (1998) Pax6 influences the time and site of origin of glial precursors in the ventral neural tube. Mol Cell Neurosci, 12:228-39. (PubMed:9828088)
  54. 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)
  55. 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)
  56. 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)
  57. Tuoc TC et al. (2013) Chromatin Regulation by BAF170 Controls Cerebral Cortical Size and Thickness. Dev Cell, 25:256-69. (PubMed:23643363)
  58. 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)
  59. Wen J et al. (2008) Pax6 directly modulate Sox2 expression in the neural progenitor cells. Neuroreport, 19:413-7. (PubMed:18287938)
  60. 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)
  61. Wolf LV et al. (2001) Coordinated expression of Hoxa2, Hoxd1 and Pax6 in the developing diencephalon. Neuroreport, 12:329-33. (PubMed:11209945)
  62. 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)
  63. 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)
  64. Yun K et al. (2001) Gsh2 and Pax6 play complementary roles in dorsoventral patterning of the mammalian telencephalon. Development, 128:193-205. (PubMed:11124115)
  65. Zhang X et al. (2002) Meis homeoproteins directly regulate Pax6 during vertebrate lens morphogenesis. Genes Dev, 16:2097-107. (PubMed:12183364)
  66. 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)

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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  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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