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Gene Review

PAX2  -  paired box 2

Gallus gallus

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Disease relevance of PAX2


High impact information on PAX2

  • In transient ectopic expression experiments in the chick embryo, Odd1 can promote expression of the mesonephric precursor markers Pax2 and Lim1 [2].
  • Several regional markers of the inner ear, such as Pax2, EphA4, SOHo1 and Wnt3a, are incorrectly expressed in VAD otocysts, and the sensory patches and vestibulo-acoustic ganglia are either greatly reduced or absent [3].
  • In addition, Shh signals differentially influenced expression patterns of genes involved in ocular tissue specification (Pax6, Pax2, and Otx2) and dorsal--ventral patterning (cVax) within the ventral but not dorsal optic cup [4].
  • We conclude that the anterior mesencephalon and the diencephalon are able to retain or activate Pax2 expression under caudal influences, and to develop as a tectal structure at later developmental stages [5].
  • In this study, by implanting Fgf8-beads in the chick neural tube, we show that Fgf8 induces a heterogeneous pattern of Pax2 expression in the diencephalon [5].

Biological context of PAX2

  • A distinct preisthmic histogenetic domain is defined by overlap of Otx2 and Pax2 gene expression in the avian caudal midbrain [6].
  • To explore the mechanisms controlling this asymmetric induction and the down-regulation of Pax2 in the anterior mesencephalon we performed antero-posterior inversions of diencephalic and/or mesencephalic neuroepithelium, with or without Fgf8-bead implantation [5].

Anatomical context of PAX2

  • Pax2 expression patterns in the developing chick inner ear [1].
  • Despite all these data, the role of Pax2 gene in the specification of the otic epithelium is still only poorly defined [1].
  • The torus semicircularis-the inferior colliculus homolog-expressed Otx2 in its ventricular lining exclusively, but it never expressed Pax2 [6].
  • Furthermore, the normally restricted expression of two genes (En1 and Pax2) in the mid/hindbrain junction region are expanded, reflecting the morphological defects [7].


  1. Pax2 expression patterns in the developing chick inner ear. Sánchez-Calderón, H., Martín-Partido, G., Hidalgo-Sánchez, M. Gene Expr. Patterns (2005) [Pubmed]
  2. Odd-skipped related 1 is required for development of the metanephric kidney and regulates formation and differentiation of kidney precursor cells. James, R.G., Kamei, C.N., Wang, Q., Jiang, R., Schultheiss, T.M. Development (2006) [Pubmed]
  3. Distinct roles for hindbrain and paraxial mesoderm in the induction and patterning of the inner ear revealed by a study of vitamin-A-deficient quail. Kil, S.H., Streit, A., Brown, S.T., Agrawal, N., Collazo, A., Zile, M.H., Groves, A.K. Dev. Biol. (2005) [Pubmed]
  4. Temporal and spatial effects of Sonic hedgehog signaling in chick eye morphogenesis. Zhang, X.M., Yang, X.J. Dev. Biol. (2001) [Pubmed]
  5. Positional regulation of Pax2 expression pattern in mesencephalic and diencephalic alar plate. Vieira, C., Garcia-Lopez, R., Martínez, S. Neuroscience (2006) [Pubmed]
  6. A distinct preisthmic histogenetic domain is defined by overlap of Otx2 and Pax2 gene expression in the avian caudal midbrain. Hidalgo-Sánchez, M., Martínez-de-la-Torre, M., Alvarado-Mallart, R.M., Puelles, L. J. Comp. Neurol. (2005) [Pubmed]
  7. Sonic hedgehog-mediated ventralization disrupts formation of the midbrain-hindbrain junction in the chick embryo. Zhang, X.M., Lin, E., Yang, X.J. Dev. Neurosci. (2000) [Pubmed]
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