EMX2 explained

Homeobox protein Emx2 is a protein that in humans is encoded by the EMX2 gene.^{[1] [2]}

Function

The homeodomain transcription 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].

The EMX2 gene encodes for a transcription factor that is a homolog to Drosophila melanogaster “empty spiracles” gene. 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 urogenital system. In the developing uroepithelium, EMX2 is negatively regulated by HOXA10. EMX2 has been associated with Schizencephaly, 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]

See also

• EMX1

Further reading

• Guerrini R, Carrozzo R . Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing . Seizure: The Journal of the British Epilepsy Association . 11 Suppl A . 7. 532–43; quiz 544–7 . 2002 . 12185771 . 10.1053/seiz.2001.0650. 18943418 . free .
• Simeone A, Gulisano M, Acampora D . Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex . EMBO J. . 11 . 7 . 2541–50 . 1992 . 1352754 . 10.1002/j.1460-2075.1992.tb05319.x. 556729 . etal.
• Brunelli S, Faiella A, Capra V . Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly . Nat. Genet. . 12 . 1 . 94–6 . 1996 . 8528262 . 10.1038/ng0196-94 . 339074 . etal.
• Wiemann S, Weil B, Wellenreuther R . Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs . Genome Res. . 11 . 3 . 422–35 . 2001 . 11230166 . 10.1101/gr.GR1547R . 311072 . etal.
• Noonan FC, Mutch DG, Ann Mallon M, Goodfellow PJ . Characterization of the homeodomain gene EMX2: sequence conservation, expression analysis, and a search for mutations in endometrial cancers . Genomics . 76 . 1–3 . 37–44 . 2001 . 11549315 . 10.1006/geno.2001.6590 .
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Troy PJ, Daftary GS, Bagot CN, Taylor HS . Transcriptional repression of peri-implantation EMX2 expression in mammalian reproduction by HOXA10 . Mol. Cell. Biol. . 23 . 1 . 1–13 . 2003 . 12482956 . 10.1128/MCB.23.1.1-13.2003 . 140663 .
• Noonan FC, Goodfellow PJ, Staloch LJ . Antisense transcripts at the EMX2 locus in human and mouse . Genomics . 81 . 1 . 58–66 . 2003 . 12573261 . 10.1016/S0888-7543(02)00023-X . etal.
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Daftary GS, Taylor HS . 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 . 2004 . 15126568 . 10.1210/jc.2003-031389 . free .
• Nédélec S, Foucher I, Brunet I . Emx2 homeodomain transcription factor interacts with eukaryotic translation initiation factor 4E (eIF4E) in the axons of olfactory sensory neurons . Proc. Natl. Acad. Sci. U.S.A. . 101 . 29 . 10815–20 . 2004 . 15247416 . 10.1073/pnas.0403824101 . 490017 . 2004PNAS..10110815N . etal. free .
• Hamasaki T, Leingärtner A, Ringstedt T, O'Leary DD . 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 . 2004 . 15294144 . 10.1016/j.neuron.2004.07.016 . 14259180 . free .
• Treloar SA, Zhao ZZ, Le L . Variants in EMX2 and PTEN do not contribute to risk of endometriosis . Mol. Hum. Reprod. . 13 . 8 . 587–94 . 2007 . 17563403 . 10.1093/molehr/gam023 . etal. free .

Notes and References

1. Kastury K, Druck T, Huebner K, Barletta C, Acampora D, Simeone A, Faiella A, Boncinelli E . Chromosome locations of human EMX and OTX genes . Genomics . 22 . 1 . 41–5 . Dec 1994 . 7959790 . 10.1006/geno.1994.1343 .
2. Web site: Entrez Gene . EMX2 empty spiracles homeobox 2 .
3. Walldorf U, Gehring WJ . Empty spiracles, a gap gene containing a homeobox involved in Drosophila head development . The EMBO Journal . 11 . 6 . 2247–59 . June 1992 . 1376248 . 556692 . 10.1002/j.1460-2075.1992.tb05284.x.
4. Web site: Schizencephaly . Genetic Testing Registry (GTR) . National Center for Biotechnology Information, U.S. National Library of Medicine .
5. Zhang Y, Cao G, Yuan QG, Li JH, Yang WB . Empty Spiracles Homeobox 2 (EMX2) Inhibits the Invasion and Tumorigenesis in Colorectal Cancer Cells . Oncology Research . 25 . 4 . 537–544 . April 2017 . 27712600 . 10.3727/096504016X14756640150695 . 7841084 .