EMX2

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.{{cite journal | vauthors = Walldorf U, Gehring WJ | title = Empty spiracles, a gap gene containing a homeobox involved in Drosophila head development | journal = The EMBO Journal | volume = 11 | issue = 6 | pages = 2247–59 | date = June 1992 | pmid = 1376248 | pmc = 556692 | doi = 10.1002/j.1460-2075.1992.tb05284.x}}

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.{{cite web | title = Schizencephaly | work = Genetic Testing Registry (GTR) | publisher = National Center for Biotechnology Information, U.S. National Library of Medicine | url = https://www.ncbi.nlm.nih.gov/gtr/conditions/C0266484/ }} 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.{{cite journal | vauthors = Zhang Y, Cao G, Yuan QG, Li JH, Yang WB | title = Empty Spiracles Homeobox 2 (EMX2) Inhibits the Invasion and Tumorigenesis in Colorectal Cancer Cells | journal = Oncology Research | volume = 25 | issue = 4 | pages = 537–544 | date = April 2017 | pmid = 27712600 | doi = 10.3727/096504016X14756640150695 | pmc = 7841084 }}

• EMX1

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• {{cite journal | vauthors=Guerrini R, Carrozzo R |title=Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing |journal=Seizure: The Journal of the British Epilepsy Association |volume=11 Suppl A |issue= 7|pages= 532–43; quiz 544–7 |year= 2002 |pmid= 12185771 |doi= 10.1053/seiz.2001.0650|s2cid=18943418 |doi-access=free }}
• {{cite journal | vauthors=Simeone A, Gulisano M, Acampora D |title=Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex |journal=EMBO J. |volume=11 |issue= 7 |pages= 2541–50 |year= 1992 |pmid= 1352754 |doi= 10.1002/j.1460-2075.1992.tb05319.x| pmc=556729 |display-authors=etal}}
• {{cite journal | vauthors=Brunelli S, Faiella A, Capra V |title=Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly |journal=Nat. Genet. |volume=12 |issue= 1 |pages= 94–6 |year= 1996 |pmid= 8528262 |doi= 10.1038/ng0196-94 |s2cid=339074 |display-authors=etal}}
• {{cite journal | vauthors=Wiemann S, Weil B, Wellenreuther R |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs |journal=Genome Res. |volume=11 |issue= 3 |pages= 422–35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.GR1547R | pmc=311072 |display-authors=etal}}
• {{cite journal | vauthors=Noonan FC, Mutch DG, Ann Mallon M, Goodfellow PJ |title=Characterization of the homeodomain gene EMX2: sequence conservation, expression analysis, and a search for mutations in endometrial cancers |journal=Genomics |volume=76 |issue= 1–3 |pages= 37–44 |year= 2001 |pmid= 11549315 |doi= 10.1006/geno.2001.6590 }}
• {{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |display-authors=etal|doi-access=free }}
• {{cite journal | vauthors=Troy PJ, Daftary GS, Bagot CN, Taylor HS |title=Transcriptional repression of peri-implantation EMX2 expression in mammalian reproduction by HOXA10 |journal=Mol. Cell. Biol. |volume=23 |issue= 1 |pages= 1–13 |year= 2003 |pmid= 12482956 |doi=10.1128/MCB.23.1.1-13.2003 | pmc=140663 }}
• {{cite journal | vauthors=Noonan FC, Goodfellow PJ, Staloch LJ |title=Antisense transcripts at the EMX2 locus in human and mouse |journal=Genomics |volume=81 |issue= 1 |pages= 58–66 |year= 2003 |pmid= 12573261 |doi=10.1016/S0888-7543(02)00023-X |display-authors=etal}}
• {{cite journal | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal|doi-access=free }}
• {{cite journal | vauthors=Daftary GS, Taylor HS |title=EMX2 gene expression in the female reproductive tract and aberrant expression in the endometrium of patients with endometriosis |journal=J. Clin. Endocrinol. Metab. |volume=89 |issue= 5 |pages= 2390–6 |year= 2004 |pmid= 15126568 |doi=10.1210/jc.2003-031389 |doi-access=free }}
• {{cite journal | vauthors=Nédélec S, Foucher I, Brunet I |title=Emx2 homeodomain transcription factor interacts with eukaryotic translation initiation factor 4E (eIF4E) in the axons of olfactory sensory neurons |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 29 |pages= 10815–20 |year= 2004 |pmid= 15247416 |doi= 10.1073/pnas.0403824101 | pmc=490017 |bibcode=2004PNAS..10110815N |display-authors=etal|doi-access=free }}
• {{cite journal | vauthors=Hamasaki T, Leingärtner A, Ringstedt T, O'Leary DD |title=EMX2 regulates sizes and positioning of the primary sensory and motor areas in neocortex by direct specification of cortical progenitors |journal=Neuron |volume=43 |issue= 3 |pages= 359–72 |year= 2004 |pmid= 15294144 |doi= 10.1016/j.neuron.2004.07.016 |s2cid=14259180 |doi-access=free }}
• {{cite journal | vauthors=Treloar SA, Zhao ZZ, Le L |title=Variants in EMX2 and PTEN do not contribute to risk of endometriosis |journal=Mol. Hum. Reprod. |volume=13 |issue= 8 |pages= 587–94 |year= 2007 |pmid= 17563403 |doi= 10.1093/molehr/gam023 |display-authors=etal|doi-access=free }}

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• {{MeshName|EMX2+protein,+human}}

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{{Transcription factors|g3}}

Category:Transcription factors

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