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Gene Ontology Classifications
paired box 3

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

GO curators for mouse genes have assigned the following annotations to the gene product of Pax3. (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 is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [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
  1. Barber TD et al. (2002) Identification of Target Genes Regulated by PAX3 and PAX3--FKHR in Embryogenesis and Alveolar Rhabdomyosarcoma. Genomics, 79:278-84. (PubMed:11863357)
  2. Bogani D et al. (2004) New semidominant mutations that affect mouse development. Genesis, 40:109. (PubMed:15384171)
  3. Boutet SC et al. (2007) Regulation of Pax3 by proteasomal degradation of monoubiquitinated protein in skeletal muscle progenitors. Cell, 130:349-62. (PubMed:17662948)
  4. Conway SJ et al. (2000) Decreased neural crest stem cell expansion is responsible for the conotruncal heart defects within the splotch (Sp(2H))/Pax3 mouse mutant. Cardiovasc Res, 47:314-28. (PubMed:10946068)
  5. Diao Y et al. (2012) Pax3/7BP is a Pax7- and Pax3-binding protein that regulates the proliferation of muscle precursor cells by an epigenetic mechanism. Cell Stem Cell, 11:231-41. (PubMed:22862948)
  6. Kochilas LK et al. (1999) p57Kip2 expression is enhanced during mid-cardiac murine development and is restricted to trabecular myocardium. Pediatr Res, 45:635-42. (PubMed:10231856)
  7. Lakkis MM et al. (1999) Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects. Dev Biol, 212:80-92. (PubMed:10419687)
  8. Lang D et al. (2005) Pax3 functions at a nodal point in melanocyte stem cell differentiation. Nature, 433:884-7. (PubMed:15729346)
  9. Mansouri A et al. (1998) Pax3 and Pax7 are expressed in commissural neurons and restrict ventral neuronal identity in the spinal cord. Mech Dev, 78:171-8. (PubMed:9858722)
  10. Murakami M et al. (2006) Transcriptional activity of Pax3 is co-activated by TAZ. Biochem Biophys Res Commun, 339:533-9. (PubMed:16300735)
  11. Picchione F et al. (2011) IRIZIO: a novel gene cooperating with PAX3-FOXO1 in alveolar rhabdomyosarcoma (ARMS). Carcinogenesis, 32:452-61. (PubMed:21177767)
  12. Relaix F et al. (2004) Divergent functions of murine Pax3 and Pax7 in limb muscle development. Genes Dev, 18:1088-105. (PubMed:15132998)
  13. Rolfe RA et al. (2014) Identification of mechanosensitive genes during skeletal development: alteration of genes associated with cytoskeletal rearrangement and cell signalling pathways. BMC Genomics, 15:48. (PubMed:24443808)
  14. Seo KW. (2007) Dmrt2 and Pax3 double-knockout mice show severe defects in embryonic myogenesis. Comp Med, 57:460-8. (PubMed:17974128)
  15. Van Raamsdonk CD et al. (2004) Effects of G-protein mutations on skin color. Nat Genet, 36:961-8. (PubMed:15322542)
  16. 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)
  17. Wiggan O et al. (1998) Interaction of the pRB-family proteins with factors containing paired-like homeodomains. Oncogene, 16:227-36. (PubMed:9464541)

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

Filter Markers by: Category  Evidence Code 


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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