The homeodomaintranscription 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 developing Drosophila head.[supplied by OMIM].[2]
The EMX2 gene encodes for a transcription factor that is a homolog to Drosophila melanogaster “empty spiracles” gene.[2] The “empty spiracles gene” is needed for the proper head development/formation as well as the development of posterior spiracles in Drosophila melanogaster.[3]
In humans, EMX2 shows high expression in the dorsal telencephalon, olfactory neuroepithelium, as well as the urogenetial system.[2] In the developing uroepithelium, EMX2 is negatively regulated by HOXA10.[2] EMX2 has been associated with Schizencephaly,[2] 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.[4] 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.[5]
↑"Schizencephaly". Genetic Testing Registry (GTR). National Center for Biotechnology Information, U.S. National Library of Medicine.
↑Zhang Y, Cao G, Yuan QG, Li JH, Yang WB (April 2017). "Empty Spiracles Homeobox 2 (EMX2) Inhibits the Invasion and Tumorigenesis in Colorectal Cancer Cells". Oncology Research. 25 (4): 537–544. doi:10.3727/096504016X14756640150695. PMID27712600.
Further reading
Guerrini R, Carrozzo R (2002). "Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing". Seizure : the journal of the British Epilepsy Association. 11 Suppl A: 532–43, quiz 544–7. doi:10.1053/seiz.2001.0650. PMID12185771.
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.
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.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.
Daftary GS, Taylor HS (2004). "EMX2 gene expression in the female reproductive tract and aberrant expression in the endometrium of patients with endometriosis". J. Clin. Endocrinol. Metab. 89 (5): 2390–6. doi:10.1210/jc.2003-031389. PMID15126568.
Hamasaki T, Leingärtner A, Ringstedt T, O'Leary DD (2004). "EMX2 regulates sizes and positioning of the primary sensory and motor areas in neocortex by direct specification of cortical progenitors". Neuron. 43 (3): 359–72. doi:10.1016/j.neuron.2004.07.016. PMID15294144.
Treloar SA, Zhao ZZ, Le L, et al. (2007). "Variants in EMX2 and PTEN do not contribute to risk of endometriosis". Mol. Hum. Reprod. 13 (8): 587–94. doi:10.1093/molehr/gam023. PMID17563403.
