Thehomeodomaintranscription factor EMX2 is critical for central nervous system and urogenital development.EMX1 (MIM 600034) and EMX2 are related to the 'empty spiracles' gene expressed in the developingDrosophila head.[supplied by OMIM].[5]
The EMX2 gene encodes for a transcription factor that is a homolog toDrosophila melanogaster “empty spiracles” gene.[5] The “empty spiracles gene” is needed for the proper head development/formation as well as the development of posterior spiracles inDrosophila melanogaster.[6]
In humans, EMX2 shows high expression in the dorsaltelencephalon, olfactory neuroepithelium, as well as the urogenital system.[5] In the developing uroepithelium, EMX2 is negatively regulated byHOXA10.[5] EMX2 has been associated withSchizencephaly,[5] a disease where there are large parts of the brain hemispheres absent and that are replaced with cerebrospinal fluid, clinical observations can include seizures, blindness, and inability to walk/speak.[7] EMX2 has also been shown to have an important role in tumorigenesis. One study found that the expression of EMX2 is significantly decreased in tissues and cells with colorectal cancer. It is suspected that EMX2 could be used as a treatment of colorectal cancer.[8]
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Kastury K, Druck T, Huebner K, Barletta C, Acampora D, Simeone A, Faiella A, Boncinelli E (Dec 1994). "Chromosome locations of human EMX and OTX genes".Genomics.22 (1):41–5.doi:10.1006/geno.1994.1343.PMID7959790.
Brunelli S, Faiella A, Capra V, et al. (1996). "Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly".Nat. Genet.12 (1):94–6.doi:10.1038/ng0196-94.PMID8528262.S2CID339074.
Noonan FC, Mutch DG, Ann Mallon M, Goodfellow PJ (2001). "Characterization of the homeodomain gene EMX2: sequence conservation, expression analysis, and a search for mutations in endometrial cancers".Genomics.76 (1–3):37–44.doi:10.1006/geno.2001.6590.PMID11549315.
Noonan FC, Goodfellow PJ, Staloch LJ, et al. (2003). "Antisense transcripts at the EMX2 locus in human and mouse".Genomics.81 (1):58–66.doi:10.1016/S0888-7543(02)00023-X.PMID12573261.
