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Gene Ontology Classifications
Symbol
Name
ID
Gli3
GLI-Kruppel family member GLI3
MGI:95729

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

GO curators for mouse genes have assigned the following annotations to the gene product of Gli3. (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 a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
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 based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
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  2. Alt B et al. (2006) Arteries define the position of the thyroid gland during its developmental relocalisation. Development, 133:3797-804. (PubMed:16968815)
  3. Aoto K et al. (2002) Mouse GLI3 Regulates Fgf8 Expression and Apoptosis in the Developing Neural Tube, Face, and Limb Bud. Dev Biol, 251:320-32. (PubMed:12435361)
  4. Bai CB et al. (2004) All mouse ventral spinal cord patterning by hedgehog is Gli dependent and involves an activator function of Gli3. Dev Cell, 6:103-15. (PubMed:14723851)
  5. Balmer CW et al. (2004) Loss of Gli3 and Shh function disrupts olfactory axon trajectories. J Comp Neurol, 472:292-307. (PubMed:15065125)
  6. Blaess S et al. (2006) Sonic hedgehog regulates Gli activator and repressor functions with spatial and temporal precision in the mid/hindbrain region. Development, 133:1799-809. (PubMed:16571630)
  7. Bok J et al. (2007) Opposing gradients of Gli repressor and activators mediate Shh signaling along the dorsoventral axis of the inner ear. Development, 134:1713-22. (PubMed:17395647)
  8. Buscher D et al. (1997) Evidence for genetic control of Sonic hedgehog by Gli3 in mouse limb development. Mech Dev, 62:175-82. (PubMed:9152009)
  9. Buttitta L et al. (2003) Interplays of Gli2 and Gli3 and their requirement in mediating Shh-dependent sclerotome induction. Development, 130:6233-43. (PubMed:14602680)
  10. Cain JE et al. (2009) GLI3 repressor controls nephron number via regulation of Wnt11 and Ret in ureteric tip cells. PLoS One, 4:e7313. (PubMed:19809516)
  11. Chen MH et al. (2009) Cilium-independent regulation of Gli protein function by Sufu in Hedgehog signaling is evolutionarily conserved. Genes Dev, 23:1910-28. (PubMed:19684112)
  12. Cheung HO et al. (2009) The kinesin protein Kif7 is a critical regulator of Gli transcription factors in mammalian hedgehog signaling. Sci Signal, 2:ra29. (PubMed:19549984)
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  14. Dakubo GD et al. (2008) Indian hedgehog signaling from endothelial cells is required for sclera and retinal pigment epithelium development in the mouse eye. Dev Biol, 320:242-55. (PubMed:18582859)
  15. Dunn NR et al. (1997) Haploinsufficient phenotypes in Bmp4 heterozygous null mice and modification by mutations in Gli3 and Alx4. Dev Biol, 188:235-47. (PubMed:9268572)
  16. Eggenschwiler JT et al. (2006) Mouse Rab23 regulates Hedgehog signaling from Smoothened to Gli proteins. Dev Biol, 290:1-12. (PubMed:16364285)
  17. Furimsky M et al. (2006) Complementary Gli activity mediates early patterning of the mouse visual system. Dev Dyn, 235:594-605. (PubMed:16342201)
  18. Grindley JC et al. (1997) Evidence for the involvement of the Gli gene family in embryonic mouse lung development. Dev Biol, 188:337-48. (PubMed:9268579)
  19. Hager-Theodorides AL et al. (2009) The Gli3 transcription factor expressed in the thymus stroma controls thymocyte negative selection via Hedgehog-dependent and -independent mechanisms. J Immunol, 183:3023-32. (PubMed:19667090)
  20. Hager-Theodorides AL et al. (2005) The transcription factor Gli3 regulates differentiation of fetal CD4- CD8- double-negative thymocytes. Blood, 106:1296-304. (PubMed:15855276)
  21. Hardcastle Z et al. (1998) The Shh signalling pathway in tooth development: defects in Gli2 and Gli3 mutants. Development, 125:2803-11. (PubMed:9655803)
  22. Hasenpusch-Theil K et al. (2012) Transcriptional analysis of Gli3 mutants identifies Wnt target genes in the developing hippocampus. Cereb Cortex, 22:2878-93. (PubMed:22235033)
  23. Hatsell SJ et al. (2006) Gli3-mediated repression of Hedgehog targets is required for normal mammary development. Development, 133:3661-70. (PubMed:16914490)
  24. Haycraft CJ et al. (2005) Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function. PLoS Genet, 1:e53. (PubMed:16254602)
  25. Hu MC et al. (2006) GLI3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis. Development, 133:569-78. (PubMed:16396903)
  26. Huang X et al. (2008) Gli3-deficient mice exhibit cleft palate associated with abnormal tongue development. Dev Dyn, 237:3079-3087. (PubMed:18816854)
  27. Hui CC et al. (1993) A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene. Nat Genet, 3:241-6. (PubMed:8387379)
  28. Humke EW et al. (2010) The output of Hedgehog signaling is controlled by the dynamic association between Suppressor of Fused and the Gli proteins. Genes Dev, 24:670-82. (PubMed:20360384)
  29. Keino H et al. (1994) Apoptotic degeneration in the arhinencephalic brain of the mouse mutant Pdn/Pdn. Brain Res Dev Brain Res, 78:161-8. (PubMed:8026071)
  30. Kim JH et al. (2005) Gli3 null mice display glandular overgrowth of the developing stomach. Dev Dyn, 234:984-91. (PubMed:16247775)
  31. Kim JW et al. (2006) Hedgehog-regulated localization of Vax2 controls eye development. Genes Dev, 20:2833-47. (PubMed:17043310)
  32. Kim PC et al. (2001) Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway. J Pediatr Surg, 36:381-4. (PubMed:11172440)
  33. Kimmel SG et al. (2000) New mouse models of congenital anorectal malformations J Pediatr Surg, 35:227-31. (PubMed:10693670)
  34. Ko HW et al. (2010) Broad-minded links cell cycle-related kinase to cilia assembly and hedgehog signal transduction. Dev Cell, 18:237-47. (PubMed:20159594)
  35. Koziel L et al. (2005) Gli3 acts as a repressor downstream of Ihh in regulating two distinct steps of chondrocyte differentiation. Development, 132:5249-60. (PubMed:16284117)
  36. Kuijper S et al. (2005) Genetics of shoulder girdle formation: roles of Tbx15 and aristaless-like genes. Development, 132:1601-10. (PubMed:15728667)
  37. Lai CK et al. (2011) Functional characterization of putative cilia genes by high-content analysis. Mol Biol Cell, 22:1104-19. (PubMed:21289087)
  38. Lallemand Y et al. (2009) Msx genes are important apoptosis effectors downstream of the Shh/Gli3 pathway in the limb. Dev Biol, 331:189-98. (PubMed:19422820)
  39. Lei Q et al. (2004) Transduction of graded Hedgehog signaling by a combination of Gli2 and Gli3 activator functions in the developing spinal cord. Development, 131:3593-604. (PubMed:15215207)
  40. Li Y et al. (2004) Sonic hedgehog signaling regulates Gli3 processing, mesenchymal proliferation, and differentiation during mouse lung organogenesis. Dev Biol, 270:214-31. (PubMed:15136151)
  41. Magnani D et al. (2010) The Gli3 hypomorphic mutation Pdn causes selective impairment in the growth, patterning, and axon guidance capability of the lateral ganglionic eminence. J Neurosci, 30:13883-94. (PubMed:20943929)
  42. Matera I et al. (2008) A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy. Hum Mol Genet, 17:2118-31. (PubMed:18397875)
  43. Mau E et al. (2007) PTHrP regulates growth plate chondrocyte differentiation and proliferation in a Gli3 dependent manner utilizing hedgehog ligand dependent and independent mechanisms. Dev Biol, 305:28-39. (PubMed:17328886)
  44. Mizugishi K et al. (2001) Molecular properties of Zic proteins as transcriptional regulators and their relationship to GLI proteins. J Biol Chem, 276:2180-8. (PubMed:11053430)
  45. Mo R et al. (2001) Anorectal malformations caused by defects in sonic hedgehog signaling. Am J Pathol, 159:765-74. (PubMed:11485934)
  46. Motoyama J et al. (1998) Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus [see comments] Nat Genet, 20:54-7. (PubMed:9731531)
  47. O'Rourke MP et al. (2002) Twist plays an essential role in FGF and SHH signal transduction during mouse limb development. Dev Biol, 248:143-56. (PubMed:12142027)
  48. Ocbina PJ et al. (2011) Complex interactions between genes controlling trafficking in primary cilia. Nat Genet, 43:547-53. (PubMed:21552265)
  49. Oh S et al. (2005) Specific requirements of sonic hedgehog signaling during oligodendrocyte development. Dev Dyn, 234:489-96. (PubMed:15880651)
  50. Pan Y et al. (2006) Sonic hedgehog signaling regulates Gli2 transcriptional activity by suppressing its processing and degradation. Mol Cell Biol, 26:3365-77. (PubMed:16611981)
  51. Persson M et al. (2002) Dorsal-ventral patterning of the spinal cord requires Gli3 transcriptional repressor activity. Genes Dev, 16:2865-78. (PubMed:12435629)
  52. Qin J et al. (2011) Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components. Proc Natl Acad Sci U S A, 108:1456-61. (PubMed:21209331)
  53. Rice DP et al. (2010) Gli3Xt-J/Xt-J mice exhibit lambdoid suture craniosynostosis which results from altered osteoprogenitor proliferation and differentiation. Hum Mol Genet, 19:3457-67. (PubMed:20570969)
  54. Sheth R et al. (2007) Hoxd and Gli3 interactions modulate digit number in the amniote limb. Dev Biol, 310:430-41. (PubMed:17714700)
  55. Shibukawa Y et al. (2007) Temporomandibular joint formation and condyle growth require Indian hedgehog signaling. Dev Dyn, 236:426-34. (PubMed:17191253)
  56. Simon-Chazottes D et al. (2000) Genomic organization, chromosomal assignment, and expression analysis of the mouse suppressor of fused gene (Sufu) coding a Gli protein partner. Mamm Genome, 11:614-21. (PubMed:10920228)
  57. Theil T. (2005) Gli3 is required for the specification and differentiation of preplate neurons. Dev Biol, 286:559-71. (PubMed:16168404)
  58. Theil T et al. (1999) Gli3 is required for Emx gene expression during dorsal telencephalon development. Development, 126:3561-71. (PubMed:10409502)
  59. Tole S et al. (2000) Dorsoventral patterning of the telencephalon is disrupted in the mouse mutant extra-toes(J). Dev Biol, 217:254-65. (PubMed:10625551)
  60. 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)
  61. Ueda S et al. (1997) Local disturbance of neuronal migration in the S-100beta-retarded mutant mouse. Cell Tissue Res, 289:547-51. (PubMed:9232833)
  62. Veltmaat JM et al. (2006) Gli3-mediated somitic Fgf10 expression gradients are required for the induction and patterning of mammary epithelium along the embryonic axes. Development, 133:2325-35. (PubMed:16720875)
  63. Wang C et al. (2007) The Shh-independent activator function of the full-length Gli3 protein and its role in vertebrate limb digit patterning. Dev Biol, 305:460-9. (PubMed:17400206)
  64. Wijgerde M et al. (2002) A direct requirement for Hedgehog signaling for normal specification of all ventral progenitor domains in the presumptive mammalian spinal cord. Genes Dev, 16:2849-64. (PubMed:12435628)
  65. Willaredt MA et al. (2008) A crucial role for primary cilia in cortical morphogenesis. J Neurosci, 28:12887-900. (PubMed:19036983)
  66. Wuelling M et al. (2009) Trps1, a regulator of chondrocyte proliferation and differentiation, interacts with the activator form of Gli3. Dev Biol, 328:40-53. (PubMed:19389374)
  67. Yu T et al. (2009) Analysis of early ventral telencephalic defects in mice lacking functional Gli3 protein. J Comp Neurol, 512:613-27. (PubMed:19048639)



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
10/08/2014
MGI 5.20
The Jackson Laboratory