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Gene Ontology Classifications
transcription factor AP-2, alpha

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GO curators for mouse genes have assigned the following annotations to the gene product of Tfap2a. (This text reflects annotations as of Tuesday, May 26, 2015.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of August 8, 2011. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
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. Bamforth SD et al. (2001) Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator. Nat Genet, 29:469-74. (PubMed:11694877)
  2. Bamforth SD et al. (2004) Cited2 controls left-right patterning and heart development through a Nodal-Pitx2c pathway. Nat Genet, 36:1189-96. (PubMed:15475956)
  3. Bassett EA et al. (2010) AP-2alpha knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis. Hum Mol Genet, 19:1791-804. (PubMed:20150232)
  4. Brewer S et al. (2004) Loss of AP-2alpha impacts multiple aspects of ventral body wall development and closure. Dev Biol, 267:399-417. (PubMed:15013802)
  5. Brewer S et al. (2002) Requirement for AP-2alpha in cardiac outflow tract morphogenesis. Mech Dev, 110:139-49. (PubMed:11744375)
  6. Chen HG et al. (2009) Transcriptional regulation of PP2A-A alpha is mediated by multiple factors including AP-2alpha, CREB, ETS-1, and SP-1. PLoS One, 4:e7019. (PubMed:19750005)
  7. Dwivedi DJ et al. (2005) Targeted deletion of AP-2alpha leads to disruption in corneal epithelial cell integrity and defects in the corneal stroma. Invest Ophthalmol Vis Sci, 46:3623-30. (PubMed:16186342)
  8. Feng W et al. (2008) Identification and analysis of a conserved Tcfap2a intronic enhancer element required for expression in facial and limb bud mesenchyme. Mol Cell Biol, 28:315-25. (PubMed:17984226)
  9. Imhof A et al. (1999) Transcriptional regulation of the AP-2alpha promoter by BTEB-1 and AP-2rep, a novel wt-1/ egr-related zinc finger repressor. Mol Cell Biol, 19:194-204. (PubMed:9858544)
  10. Kramer PR et al. (2000) Ectopic expression of luteinizing hormone-releasing hormone and peripherin in the respiratory epithelium of mice lacking transcription factor AP-2alpha Mech Dev, 94:79-94. (PubMed:10842061)
  11. Kramer PR et al. (2000) Transcription factor activator protein-2 is required for continued luteinizing hormone-releasing hormone expression in the forebrain of developing mice. Endocrinology, 141:1823-38. (PubMed:10803593)
  12. Maconochie M et al. (1999) Regulation of Hoxa2 in cranial neural crest cells involves members of the AP-2 family. Development, 126:1483-94. (PubMed:10068641)
  13. Mesbah K et al. (2008) Tbx3 is required for outflow tract development. Circ Res, 103:743-50. (PubMed:18723448)
  14. Morales-Lazaro SL et al. (2010) Induction of dystrophin Dp71 expression during neuronal differentiation: opposite roles of Sp1 and AP2alpha in Dp71 promoter activity. J Neurochem, 112:474-85. (PubMed:19943855)
  15. Moser M et al. (1995) Cloning and characterization of a second AP-2 transcription factor: AP-2 beta. Development, 121:2779-88. (PubMed:7555706)
  16. Nottoli T et al. (1998) AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric mice. Proc Natl Acad Sci U S A, 95:13714-9. (PubMed:9811866)
  17. Orso F et al. (2009) AP-2alpha regulates migration of GN-11 neurons via a specific genetic programme involving the Axl receptor tyrosine kinase. BMC Biol, 7:25. (PubMed:19463168)
  18. Pontoriero GF et al. (2008) Cell autonomous roles for AP-2alpha in lens vesicle separation and maintenance of the lens epithelial cell phenotype. Dev Dyn, 237:602-17. (PubMed:18224708)
  19. Schmidt M et al. (2011) The transcription factors AP-2beta and AP-2alpha are required for survival of sympathetic progenitors and differentiated sympathetic neurons. Dev Biol, 355:89-100. (PubMed:21539825)
  20. Schorle H et al. (1996) Transcription factor AP-2 essential for cranial closure and craniofacial development. Nature, 381:235-8. (PubMed:8622765)
  21. Talbot D et al. (1999) Spatiotemporal expression pattern of keratins in skin of AP-2alpha-deficient mice [published erratum appears in J Invest Dermatol 2000 Mar;114(3):609] J Invest Dermatol, 113:816-20. (PubMed:10571739)
  22. Wang X et al. (2008) AP-2 factors act in concert with Notch to orchestrate terminal differentiation in skin epidermis. J Cell Biol, 183:37-48. (PubMed:18824566)
  23. Wang X et al. (2006) AP-2alpha: a regulator of EGF receptor signaling and proliferation in skin epidermis. J Cell Biol, 172:409-21. (PubMed:16449191)
  24. West-Mays JA et al. (1999) AP-2alpha transcription factor is required for early morphogenesis of the lens vesicle. Dev Biol, 206:46-62. (PubMed:9918694)
  25. Yao D et al. (2007) High glucose increases angiopoietin-2 transcription in microvascular endothelial cells through methylglyoxal modification of mSin3A. J Biol Chem, 282:31038-45. (PubMed:17670746)
  26. Zhang J et al. (1996) Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2. Nature, 381:238-41. (PubMed:8622766)
  27. Zhao F et al. (2001) Cloning and characterization of a novel mouse ap-2 transcription factor, ap-2delta, with unique DNA binding and transactivation properties. J Biol Chem, 276:40755-60. (PubMed:11522791)
  28. Zhao F et al. (2011) A heart-hand syndrome gene: Tfap2b plays a critical role in the development and remodeling of mouse ductus arteriosus and limb patterning. PLoS One, 6:e22908. (PubMed:21829553)

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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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