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Gene Ontology Classifications
Symbol
Name
ID
Pitx2
paired-like homeodomain transcription factor 2
MGI:109340

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

GO curators for mouse genes have assigned the following annotations to the gene product of Pitx2. (This text reflects annotations as of Thursday, January 16, 2014.)
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [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 for additional MGI annotations
References
  1. Ai D et al. (2006) Pitx2 regulates cardiac left-right asymmetry by patterning second cardiac lineage-derived myocardium. Dev Biol, 296:437-49. (PubMed:16836994)
  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. Cao H et al. (2010) Tbx1 regulates progenitor cell proliferation in the dental epithelium by modulating Pitx2 activation of p21. Dev Biol, 347:289-300. (PubMed:20816801)
  4. De Langhe SP et al. (2008) Formation and Differentiation of Multiple Mesenchymal Lineages during Lung Development Is Regulated by beta-catenin Signaling. PLoS ONE, 3:e1516. (PubMed:18231602)
  5. Diehl AG et al. (2006) Extraocular muscle morphogenesis and gene expression are regulated by Pitx2 gene dose. Invest Ophthalmol Vis Sci, 47:1785-93. (PubMed:16638982)
  6. Gage PJ et al. (1999) Dosage requirement of Pitx2 for development of multiple organs. Development, 126:4643-51. (PubMed:10498698)
  7. Hjalt T et al. (2001) PITX2 Regulates Procollagen Lysyl Hydroxylase (PLOD) Gene Expression. Implications for the pathology of rieger syndrome. J Cell Biol, 152:545-52. (PubMed:11157981)
  8. Hjalt TA et al. (2000) The Pitx2 protein in mouse development. Dev Dyn, 218:195-200. (PubMed:10822271)
  9. Holmberg J et al. (2008) PITX2 gain-of-function induced defects in mouse forelimb development. BMC Dev Biol, 8:25. (PubMed:18312615)
  10. Kioussi C et al. (2002) Identification of a Wnt/Dvl/beta-Catenin --> Pitx2 Pathway Mediating Cell-Type-Specific Proliferation during Development. Cell, 111:673-85. (PubMed:12464179)
  11. Kitamura K et al. (1999) Mouse Pitx2 deficiency leads to anomalies of the ventral body wall, heart, extra- and periocular mesoderm and right pulmonary isomerism. Development, 126:5749-58. (PubMed:10572050)
  12. Lin CR et al. (1999) Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis. Nature, 401:279-82. (PubMed:10499586)
  13. Liu C et al. (2002) Pitx2c patterns anterior myocardium and aortic arch vessels and is required for local cell movement into atrioventricular cushions. Development, 129:5081-91. (PubMed:12397115)
  14. Liu C et al. (2001) Regulation of left-right asymmetry by thresholds of Pitx2c activity. Development, 128:2039-48. (PubMed:11493526)
  15. Lu MF et al. (1999) Function of Rieger syndrome gene in left-right asymmetry and craniofacial development. Nature, 401:276-8. (PubMed:10499585)
  16. Martinez-Fernandez S et al. (2006) Pitx2c overexpression promotes cell proliferation and arrests differentiation in myoblasts. Dev Dyn, 235:2930-9. (PubMed:16958127)
  17. Mommersteeg MT et al. (2007) Molecular pathway for the localized formation of the sinoatrial node. Circ Res, 100:354-62. (PubMed:17234970)
  18. Mommersteeg MT et al. (2007) Pitx2c and Nkx2-5 are required for the formation and identity of the pulmonary myocardium. Circ Res, 101:902-9. (PubMed:17823370)
  19. Nichol PF et al. (2011) Pitx2 is a Critical Early Regulatory Gene in Normal Cecal Development. J Surg Res, 170:107-11. (PubMed:21550054)
  20. Nowotschin S et al. (2006) Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field. Development, 133:1565-73. (PubMed:16556915)
  21. Sambasivan R et al. (2009) Distinct regulatory cascades govern extraocular and pharyngeal arch muscle progenitor cell fates. Dev Cell, 16:810-21. (PubMed:19531352)
  22. Shang Y et al. (2008) Pitx2 is functionally important in the early stages of vascular smooth muscle cell differentiation. J Cell Biol, 181:461-73. (PubMed:18458156)
  23. Skidmore JM et al. (2008) Cre fate mapping reveals lineage specific defects in neuronal migration with loss of Pitx2 function in the developing mouse hypothalamus and subthalamic nucleus. Mol Cell Neurosci, 37:696-707. (PubMed:18206388)
  24. Tessari A et al. (2008) Myocardial Pitx2 differentially regulates the left atrial identity and ventricular asymmetric remodeling programs. Circ Res, 102:813-22. (PubMed:18292603)
  25. Yoshioka H et al. (1998) Pitx2, a bicoid-type homeobox gene, is involved in a lefty-signaling pathway in determination of left-right asymmetry. Cell, 94:299-305. (PubMed:9708732)
  26. Zacharias AL et al. (2011) Pitx2 is an upstream activator of extraocular myogenesis and survival. Dev Biol, 349:395-405. (PubMed:21035439)
  27. Zhou W et al. (2007) Modulation of morphogenesis by noncanonical Wnt signaling requires ATF/CREB family-mediated transcriptional activation of TGFbeta2. Nat Genet, 39:1225-34. (PubMed:17767158)



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
04/08/2014
MGI 5.17
The Jackson Laboratory