Biology:EMX2
 Generic protein structure example |
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].[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 urogenital 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]
See also
References
- ↑ "Chromosome locations of human EMX and OTX genes". Genomics 22 (1): 41–5. Dec 1994. doi:10.1006/geno.1994.1343. PMID 7959790.
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 "EMX2 empty spiracles homeobox 2". Entrez Gene. https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2018.
- ↑ "Empty spiracles, a gap gene containing a homeobox involved in Drosophila head development". The EMBO Journal 11 (6): 2247–59. June 1992. doi:10.1002/j.1460-2075.1992.tb05284.x. PMID 1376248.
- ↑ "Schizencephaly". Genetic Testing Registry (GTR). National Center for Biotechnology Information, U.S. National Library of Medicine. https://www.ncbi.nlm.nih.gov/gtr/conditions/C0266484/.
- ↑ "Empty Spiracles Homeobox 2 (EMX2) Inhibits the Invasion and Tumorigenesis in Colorectal Cancer Cells". Oncology Research 25 (4): 537–544. April 2017. doi:10.3727/096504016X14756640150695. PMID 27712600.
Further reading
- "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. doi:10.1053/seiz.2001.0650. PMID 12185771.
- "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. doi:10.1002/j.1460-2075.1992.tb05319.x. PMID 1352754.
- "Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly". Nat. Genet. 12 (1): 94–6. 1996. doi:10.1038/ng0196-94. PMID 8528262.
- "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. doi:10.1101/gr.GR1547R. PMID 11230166.
- "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. doi:10.1006/geno.2001.6590. PMID 11549315.
- "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Transcriptional repression of peri-implantation EMX2 expression in mammalian reproduction by HOXA10". Mol. Cell. Biol. 23 (1): 1–13. 2003. doi:10.1128/MCB.23.1.1-13.2003. PMID 12482956.
- "Antisense transcripts at the EMX2 locus in human and mouse". Genomics 81 (1): 58–66. 2003. doi:10.1016/S0888-7543(02)00023-X. PMID 12573261.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "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. doi:10.1210/jc.2003-031389. PMID 15126568.
- "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. doi:10.1073/pnas.0403824101. PMID 15247416. Bibcode: 2004PNAS..10110815N.
- "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. doi:10.1016/j.neuron.2004.07.016. PMID 15294144.
- "Variants in EMX2 and PTEN do not contribute to risk of endometriosis". Mol. Hum. Reprod. 13 (8): 587–94. 2007. doi:10.1093/molehr/gam023. PMID 17563403.
External links
- EMX2+protein,+human at the US 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.
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