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Gene Review

EMX2  -  empty spiracles homeobox 2

Homo sapiens

Synonyms: Empty spiracles homolog 2, Empty spiracles-like protein 2, Homeobox protein EMX2
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Disease relevance of EMX2


High impact information on EMX2

  • Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly [4].
  • EMX2 regulates sizes and positioning of the primary sensory and motor areas in neocortex by direct specification of cortical progenitors [5].
  • Deletional analysis of the EMX2 5' regulatory region revealed that a 150-bp element mediated transcriptional repression when cotransfected with pcDNA3.1/HOXA10 in transient-transfection assays [6].
  • Taken together, these findings indicate that EMX2 is a direct repressor of Wnt1 expression in the developing mammalian telencephalon [7].
  • They further suggest that EMX2-Wnt1 interactions are essential for normal development of preplate derivatives in the mammalian cerebral cortex [7].

Biological context of EMX2


Anatomical context of EMX2

  • The sense and antisense transcripts display coordinate expression in that EMX2 and EMX2OS are abundant in normal postmenopausal endometrium, reduced in premenopausal endometrium, and absent or reduced in a majority of primary endometrial tumors [11].
  • Moreover, the graded distribution of EMX2 homeoprotein along the antero-posterior and medial-lateral cortical axis, is responsible for the patterning of the forebrain, in particular for the specification process that defines cortical territories and area identity during neocortical development [12].
  • To examine the potential function of EMX2 in endometrial tumorigenesis, we investigated 20 primary tumors and 6 endometrial cancer cell lines for mutations [2].
  • Expression studies showed that EMX2 transcripts are abundant in the adult uterus and that message levels seem to be inversely correlated with endometrial proliferation [2].
  • Conversely, in this culture, expression of dorsal neuroepithelial cell markers, such as Neurogenin1, Neurogenin2, Pax6, and Emx2, was down-regulated [13].

Other interactions of EMX2

  • These libraries were affinity selected with a monoclonal antibody against the neural specific factor GAP-43 and with polyclonal antibodies that recognize the EMX1 and EMX2 homeoproteins [14].
  • In this paper, we present a theoretical model that explicitly considers the genetic factors and that is able to explain several sets of experiments on cortical area regulation involving transcription factors Emx2 and Pax6, and fibroblast growth factor FGF8 [15].

Analytical, diagnostic and therapeutic context of EMX2


  1. EMX2 gene expression in the female reproductive tract and aberrant expression in the endometrium of patients with endometriosis. Daftary, G.S., Taylor, H.S. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
  2. Characterization of the homeodomain gene EMX2: sequence conservation, expression analysis, and a search for mutations in endometrial cancers. Noonan, F.C., Mutch, D.G., Ann Mallon, M., Goodfellow, P.J. Genomics (2001) [Pubmed]
  3. Mutation analysis of the EMX2 gene in Kallmann's syndrome. Taylor, H.S., Block, K., Bick, D.P., Sherins, R.J., Layman, L.C., Shering, R.J. Fertil. Steril. (1999) [Pubmed]
  4. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Brunelli, S., Faiella, A., Capra, V., Nigro, V., Simeone, A., Cama, A., Boncinelli, E. Nat. Genet. (1996) [Pubmed]
  5. EMX2 regulates sizes and positioning of the primary sensory and motor areas in neocortex by direct specification of cortical progenitors. Hamasaki, T., Leingärtner, A., Ringstedt, T., O'Leary, D.D. Neuron (2004) [Pubmed]
  6. Transcriptional repression of peri-implantation EMX2 expression in mammalian reproduction by HOXA10. Troy, P.J., Daftary, G.S., Bagot, C.N., Taylor, H.S. Mol. Cell. Biol. (2003) [Pubmed]
  7. Loss of Emx2 function leads to ectopic expression of Wnt1 in the developing telencephalon and cortical dysplasia. Ligon, K.L., Echelard, Y., Assimacopoulos, S., Danielian, P.S., Kaing, S., Grove, E.A., McMahon, A.P., Rowitch, D.H. Development (2003) [Pubmed]
  8. Cytomegalovirus infection and schizencephaly: case reports. Iannetti, P., Nigro, G., Spalice, A., Faiella, A., Boncinelli, E. Ann. Neurol. (1998) [Pubmed]
  9. Familial schizencephaly associated with EMX2 mutation. Granata, T., Farina, L., Faiella, A., Cardini, R., D'Incerti, L., Boncinelli, E., Battaglia, G. Neurology (1997) [Pubmed]
  10. HOXA10, Pbx2, and Meis1 protein expression in the human endometrium: formation of multimeric complexes on HOXA10 target genes. Sarno, J.L., Kliman, H.J., Taylor, H.S. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  11. Antisense transcripts at the EMX2 locus in human and mouse. Noonan, F.C., Goodfellow, P.J., Staloch, L.J., Mutch, D.G., Simon, T.C. Genomics (2003) [Pubmed]
  12. Emx2: a gene responsible for cortical development, regionalization and area specification. Cecchi, C. Gene (2002) [Pubmed]
  13. Basic fibroblast growth factor endows dorsal telencephalic neural progenitors with the ability to differentiate into oligodendrocytes but not gamma-aminobutyric acidergic neurons. Abematsu, M., Kagawa, T., Fukuda, S., Inoue, T., Takebayashi, H., Komiya, S., Taga, T. J. Neurosci. Res. (2006) [Pubmed]
  14. Bacteriophage lambda display of complex cDNA libraries: a new approach to functional genomics. Santi, E., Capone, S., Mennuni, C., Lahm, A., Tramontano, A., Luzzago, A., Nicosia, A. J. Mol. Biol. (2000) [Pubmed]
  15. Model of the early development of thalamo-cortical connections and area patterning via signaling molecules. Karbowski, J., Ermentrout, G.B. Journal of computational neuroscience. (2004) [Pubmed]
  16. Microarray analysis of the fetal hippocampus in the Emx2 mutant. Skutella, T., Conrad, S., Hooge, J., Bonin, M., Alvarez-Bolado, G. Dev. Neurosci. (2007) [Pubmed]
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