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Gene Review

VSX2  -  visual system homeobox 2

Homo sapiens

Synonyms: CHX10, Ceh-10 homeodomain-containing homolog, HOX10, Homeobox protein CHX10, MCOP2, ...
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Disease relevance of CHX10

  • CHX10 blocked TATA-containing and TATA-less promoters, repressed at a distance, and inhibited a complex enhancer positioned upstream or downstream of the reporter gene, whereas retinoblastoma protein (RB) inhibited the downstream enhancer only [1].
  • We report here the mapping of a human microphthalmia locus on chromosome 14q24.3, the cloning of CHX10 at this locus and the identification of recessive CHX10 mutations in two families with non-syndromic microphthalmia (MIM 251600), cataracts and severe abnormalities of the iris [2].
  • CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds [3].
  • It has been previously shown that mutations in a particular nucleotide in CHX10 are associated with an autosomal recessive syndrome of microphthalmia/anophthalmia with iris colobomas and cataracts in two families [3].
  • The frequency of GFP(+) cells immunoreactive with the ganglion cell-specific antibody RA4 was unchanged by Chx10, but was increased twofold by Pax6 [4].

High impact information on CHX10

  • Human CHX10 is expressed in progenitor cells of the developing neuroretina and in the inner nuclear layer of the mature retina [2].
  • The strong conservation in vertebrates of the CHX10 sequence, pattern of expression and loss-of-function phenotypes demonstrates the evolutionary importance of the genetic network through which this gene regulates eye development [2].
  • Human microphthalmia associated with mutations in the retinal homeobox gene CHX10 [2].
  • However, both CHX10 (14q24.3), mutations of which give rise to CMIC in mouse models, and OTX2 (14q21-22) can be excluded as candidates for autosomal recessive congenital microphthalmia (arCMIC), since they map outside the critical disease region defined by recombination events [5].
  • Previous studies have demonstrated that HOX-9 and HOX-10 paralog proteins are unique among HOX homeodomain proteins in their capacity to form in vitro cooperative DNA binding complexes with either the PBX or MEIS protein [6].

Chemical compound and disease context of CHX10


Biological context of CHX10


Anatomical context of CHX10


Other interactions of CHX10

  • VSX1 contains closely related homeo and CVC domains and, like CHX10, also repressed transcription [1].
  • A total of 84/122 of the MAC cases were screened for mutations in the coding regions of PAX6, CHX10, and SIX3 [14].
  • RESULTS: Nonphotoreceptor neurons increased threefold with Chx10 and almost sixfold with Pax6, compared with cells transfected with lacZ [4].
  • Ophthalmologic manifestations, fundus photographs, ultrasonographic (US) assessment, electroretinography (ERG), fluorescein retinal angiography (FA), Goldmann kinetic perimetry (GKP), and optical coherence tomography (OCT), as well as mutational status of MFRP and CHX10 genes in genomic DNA [15].
  • Physical mapping of CHX10, ALDH6A1, and ABCD4 on bovine chromosome 10q34 [16].


  1. Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1. Dorval, K.M., Bobechko, B.P., Ahmad, K.F., Bremner, R. J. Biol. Chem. (2005) [Pubmed]
  2. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Ferda Percin, E., Ploder, L.A., Yu, J.J., Arici, K., Horsford, D.J., Rutherford, A., Bapat, B., Cox, D.W., Duncan, A.M., Kalnins, V.I., Kocak-Altintas, A., Sowden, J.C., Traboulsi, E., Sarfarazi, M., McInnes, R.R. Nat. Genet. (2000) [Pubmed]
  3. CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. Bar-Yosef, U., Abuelaish, I., Harel, T., Hendler, N., Ofir, R., Birk, O.S. Hum. Genet. (2004) [Pubmed]
  4. Effects of homeobox genes on the differentiation of photoreceptor and nonphotoreceptor neurons. Toy, J., Norton, J.S., Jibodh, S.R., Adler, R. Invest. Ophthalmol. Vis. Sci. (2002) [Pubmed]
  5. A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32. Bessant, D.A., Khaliq, S., Hameed, A., Anwar, K., Mehdi, S.Q., Payne, A.M., Bhattacharya, S.S. Am. J. Hum. Genet. (1998) [Pubmed]
  6. HOXA9 forms triple complexes with PBX2 and MEIS1 in myeloid cells. Shen, W.F., Rozenfeld, S., Kwong, A., Köm ves, L.G., Lawrence, H.J., Largman, C. Mol. Cell. Biol. (1999) [Pubmed]
  7. Congenital bilateral severe microphthalmia with mental retardation and cerebral palsy: chromosome aberration, 46, XY, t (2;6)(q31;q24). Hirayama, T., Kobayashi, T., Fujino, O. Journal of Nippon Medical School = Nihon Ika Daigaku zasshi. (2005) [Pubmed]
  8. RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina. Hayashi, T., Huang, J., Deeb, S.S. Genomics (2000) [Pubmed]
  9. Delayed expression of the Crx gene and photoreceptor development in the Chx10-deficient retina. Rutherford, A.D., Dhomen, N., Smith, H.K., Sowden, J.C. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  10. Structure and upstream region characterization of the human gene encoding rod photoreceptor cGMP phosphodiesterase alpha-subunit. Mohamed, M.K., Taylor, R.E., Feinstein, D.S., Huang, X., Pittler, S.J. J. Mol. Neurosci. (1998) [Pubmed]
  11. CHX10 targets a subset of photoreceptor genes. Dorval, K.M., Bobechko, B.P., Fujieda, H., Chen, S., Zack, D.J., Bremner, R. J. Biol. Chem. (2006) [Pubmed]
  12. The zebrafish homologue of the ret receptor and its pattern of expression during embryogenesis. Marcos-Gutiérrez, C.V., Wilson, S.W., Holder, N., Pachnis, V. Oncogene (1997) [Pubmed]
  13. Tibial agenesis, femoral duplication, and caudal midline anomalies. Evans, J.A., Chudley, A.E. Am. J. Med. Genet. (1999) [Pubmed]
  14. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. Morrison, D., FitzPatrick, D., Hanson, I., Williamson, K., van Heyningen, V., Fleck, B., Jones, I., Chalmers, J., Campbell, H. J. Med. Genet. (2002) [Pubmed]
  15. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. Ayala-Ramirez, R., Graue-Wiechers, F., Robredo, V., Amato-Almanza, M., Horta-Diez, I., Zenteno, J.C. Mol. Vis. (2006) [Pubmed]
  16. Physical mapping of CHX10, ALDH6A1, and ABCD4 on bovine chromosome 10q34. Kuiper, H., Spötter, A., Williams, J.L., Distl, O., Drögemüller, C. Cytogenet. Genome Res. (2005) [Pubmed]
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