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Gene Review

EYA2  -  EYA transcriptional coactivator and...

Homo sapiens

Synonyms: EAB1, Eyes absent homolog 2
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Disease relevance of EYA2

  • Therefore, this study suggests an important role of EYA2 in ovarian cancer and its potential application as a therapeutic target [1].
  • Due to different translation start sites on the four unique transcripts, two isoforms of EYA2 protein (one previously identified and one novel) could be generated in neuroblastoma cells, but the sole EYA2 transcript expressed in the eye can only encode the novel isoform [2].

High impact information on EYA2

  • A highly conserved 271-amino acid C-terminal region was also found in the products of two other human genes (EYA2 and EYA3), demonstrating the existence of a novel gene family [3].
  • Synergistic regulation of vertebrate muscle development by Dach2, Eya2, and Six1, homologs of genes required for Drosophila eye formation [4].
  • EYA2 was amplified in 14.8% of ovarian carcinomas, as detected by array-based comparative genomic hybridization (n = 88) [1].
  • Activated Galpha(z) and Galpha(i2) prevent Eya2 translocation and inhibit Six/Eya2-mediated activation of a reporter gene controlled through the MEF3/TATA promoter [5].
  • In addition, Eya2 impinged on G protein-mediated signaling, as evidenced by its ability to relieve Galphai2-mediated inhibition of adenylyl cyclase [6].

Biological context of EYA2


Anatomical context of EYA2

  • Interestingly, EYA2 was expressed in several neuroblastoma cell lines as four distinct transcripts having alternative 5'-ends, whereas only one EYA2 transcript was expressed in the normal human eye [2].

Analytical, diagnostic and therapeutic context of EYA2


  1. Transcriptional coactivator Drosophila eyes absent homologue 2 is up-regulated in epithelial ovarian cancer and promotes tumor growth. Zhang, L., Yang, N., Huang, J., Buckanovich, R.J., Liang, S., Barchetti, A., Vezzani, C., O'Brien-Jenkins, A., Wang, J., Ward, M.R., Courreges, M.C., Fracchioli, S., Medina, A., Katsaros, D., Weber, B.L., Coukos, G. Cancer Res. (2005) [Pubmed]
  2. A novel Eyes Absent 2 protein is expressed in the human eye. Fee, B.E., Doyle, C.A., Cleveland, J.L. Gene (2002) [Pubmed]
  3. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Abdelhak, S., Kalatzis, V., Heilig, R., Compain, S., Samson, D., Vincent, C., Weil, D., Cruaud, C., Sahly, I., Leibovici, M., Bitner-Glindzicz, M., Francis, M., Lacombe, D., Vigneron, J., Charachon, R., Boven, K., Bedbeder, P., Van Regemorter, N., Weissenbach, J., Petit, C. Nat. Genet. (1997) [Pubmed]
  4. Synergistic regulation of vertebrate muscle development by Dach2, Eya2, and Six1, homologs of genes required for Drosophila eye formation. Heanue, T.A., Reshef, R., Davis, R.J., Mardon, G., Oliver, G., Tomarev, S., Lassar, A.B., Tabin, C.J. Genes Dev. (1999) [Pubmed]
  5. The alpha subunits of Gz and Gi interact with the eyes absent transcription cofactor Eya2, preventing its interaction with the six class of homeodomain-containing proteins. Fan, X., Brass, L.F., Poncz, M., Spitz, F., Maire, P., Manning, D.R. J. Biol. Chem. (2000) [Pubmed]
  6. Reciprocal signaling between the transcriptional co-factor Eya2 and specific members of the Galphai family. Embry, A.C., Glick, J.L., Linder, M.E., Casey, P.J. Mol. Pharmacol. (2004) [Pubmed]
  7. Distinct gene expression profile of human mesenchymal stem cells in comparison to skin fibroblasts employing cDNA microarray analysis of 9600 genes. Brendel, C., Kuklick, L., Hartmann, O., Kim, T.D., Boudriot, U., Schwell, D., Neubauer, A. Gene Expr. (2005) [Pubmed]
  8. First genomic localization of oculo-oto-dental syndrome with linkage to chromosome 20q13.1. Vieira, H., Gregory-Evans, K., Lim, N., Brookes, J.L., Brueton, L.A., Gregory-Evans, C.Y. Invest. Ophthalmol. Vis. Sci. (2002) [Pubmed]
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