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].[5]
The EMX2 gene encodes for a transcription factor that is a homolog to Drosophila 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 in Drosophila melanogaster.[6]
In humans, EMX2 shows high expression in the dorsal telencephalon, olfactory neuroepithelium, as well as the urogenital system.[5] In the developing uroepithelium, EMX2 is negatively regulated by HOXA10.[5] EMX2 has been associated with Schizencephaly,[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]
^Walldorf U, Gehring WJ (June 1992). "Empty spiracles, a gap gene containing a homeobox involved in Drosophila head development". The EMBO Journal. 11 (6): 2247–59. doi:10.1002/j.1460-2075.1992.tb05284.x. PMC556692. PMID 1376248.
^"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. PMC7841084. PMID 27712600.
Further readingedit
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 (7): 532–43, quiz 544–7. doi:10.1053/seiz.2001.0650. PMID 12185771. S2CID 18943418.
Simeone A, Gulisano M, Acampora D, et al. (1992). "Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex". EMBO J. 11 (7): 2541–50. doi:10.1002/j.1460-2075.1992.tb05319.x. PMC556729. PMID 1352754.
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. PMID 8528262. S2CID 339074.
Wiemann S, Weil B, Wellenreuther R, et al. (2001). "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. doi:10.1101/gr.GR1547R. PMC311072. PMID 11230166.
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. PMID 11549315.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. PMID 12477932.
Troy PJ, Daftary GS, Bagot CN, Taylor HS (2003). "Transcriptional repression of peri-implantation EMX2 expression in mammalian reproduction by HOXA10". Mol. Cell. Biol. 23 (1): 1–13. doi:10.1128/MCB.23.1.1-13.2003. PMC140663. PMID 12482956.
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. PMID 12573261.
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. PMID 14702039.
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. PMID 15126568.
Nédélec S, Foucher I, Brunet I, et al. (2004). "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. Bibcode:2004PNAS..10110815N. doi:10.1073/pnas.0403824101. PMC490017. PMID 15247416.
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. PMID 15294144. S2CID 14259180.
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. PMID 17563403.
emx2, homeobox, protein, emx2, protein, that, humans, encoded, gene, identifiersaliases, empty, spiracles, homeobox, 2external, idsomim, 600035, 95388, homologene, 3023, genecards, gene, location, mouse, chromosome, mouse, band19, cmstart59, end59, expression,. Homeobox protein Emx2 is a protein that in humans is encoded by the EMX2 gene 4 5 EMX2IdentifiersAliasesEMX2 empty spiracles homeobox 2External IDsOMIM 600035 MGI 95388 HomoloGene 3023 GeneCards EMX2Gene location Mouse Chr Chromosome 19 mouse 1 Band19 D3 19 56 28 cMStart59 446 804 bp 1 End59 453 789 bp 1 RNA expression patternBgeeHumanMouse ortholog Top expressed incorpus epididymiscaput epididymisseminal vesiculaganglionic eminencecanal of the cervixkidney tubulemyometriumright uterine tubeendometriumgerminal epitheliumTop expressed inuterine tubecervixconnecting tubulevas deferensovaryupper respiratory tractnoseolfactory epitheliumhandcumulus cellMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionsequence specific DNA binding DNA binding protein binding DNA binding transcription factor activity RNA polymerase II specificCellular componentnucleusBiological processcerebral cortex development multicellular organism development regulation of gene expression renal system development forebrain development brain development regulation of transcription DNA templated cell proliferation in forebrain forebrain cell migration cerebral cortex regionalization neuron differentiation anterior posterior pattern specification dentate gyrus development regulation of transcription by RNA polymerase II ureter morphogenesisSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez201813797Ensembln aENSMUSG00000043969UniProtQ04743Q04744RefSeq mRNA NM 004098NM 001165924NM 010132RefSeq protein NP 001159396NP 004089NP 034262Location UCSC n aChr 19 59 45 59 45 MbPubMed search 2 3 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 See also 3 References 4 Further reading 5 External linksFunction editThe 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 5 The EMX2 gene encodes for a transcription factor that is a homolog to Drosophila 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 in Drosophila melanogaster 6 In humans EMX2 shows high expression in the dorsal telencephalon olfactory neuroepithelium as well as the urogenital system 5 In the developing uroepithelium EMX2 is negatively regulated by HOXA10 5 EMX2 has been associated with Schizencephaly 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 See also editEMX1References edit a b c GRCm38 Ensembl release 89 ENSMUSG00000043969 Ensembl May 2017 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 PMID 7959790 a b c d e f EMX2 empty spiracles homeobox 2 Entrez Gene Walldorf U Gehring WJ June 1992 Empty spiracles a gap gene containing a homeobox involved in Drosophila head development The EMBO Journal 11 6 2247 59 doi 10 1002 j 1460 2075 1992 tb05284 x PMC 556692 PMID 1376248 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 PMC 7841084 PMID 27712600 Further reading editGuerrini 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 7 532 43 quiz 544 7 doi 10 1053 seiz 2001 0650 PMID 12185771 S2CID 18943418 Simeone A Gulisano M Acampora D et al 1992 Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex EMBO J 11 7 2541 50 doi 10 1002 j 1460 2075 1992 tb05319 x PMC 556729 PMID 1352754 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 PMID 8528262 S2CID 339074 Wiemann S Weil B Wellenreuther R et al 2001 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 doi 10 1101 gr GR1547R PMC 311072 PMID 11230166 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 PMID 11549315 Strausberg RL Feingold EA Grouse LH et al 2003 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 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Troy PJ Daftary GS Bagot CN Taylor HS 2003 Transcriptional repression of peri implantation EMX2 expression in mammalian reproduction by HOXA10 Mol Cell Biol 23 1 1 13 doi 10 1128 MCB 23 1 1 13 2003 PMC 140663 PMID 12482956 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 PMID 12573261 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 PMID 14702039 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 PMID 15126568 Nedelec S Foucher I Brunet I et al 2004 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 Bibcode 2004PNAS 10110815N doi 10 1073 pnas 0403824101 PMC 490017 PMID 15247416 Hamasaki T Leingartner 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 PMID 15294144 S2CID 14259180 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 PMID 17563403 External links editEMX2 protein human at the U S National Library of Medicine Medical Subject Headings MeSH This article incorporates text from the United States National Library of Medicine which is in the public domain nbsp This article on a gene on human chromosome 10 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title EMX2 amp oldid 1136347626, wikipedia, wiki, book, books, library,
