EMX2
Empty spiracles homeobox 2 | |||||||||||||
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Identifiers | |||||||||||||
Symbol | EMX2 | ||||||||||||
External IDs | OMIM: 600035 MGI: 95388 HomoloGene: 3023 GeneCards: EMX2 Gene | ||||||||||||
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RNA expression pattern | |||||||||||||
More reference expression data | |||||||||||||
Orthologs | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | 2018 | 13797 | |||||||||||
Ensembl | ENSG00000170370 | ENSMUSG00000043969 | |||||||||||
UniProt | Q04743 | Q04744 | |||||||||||
RefSeq (mRNA) | NM_001165924 | NM_010132 | |||||||||||
RefSeq (protein) | NP_001159396 | NP_034262 | |||||||||||
Location (UCSC) |
Chr 10: 117.54 – 117.55 Mb |
Chr 19: 59.46 – 59.47 Mb | |||||||||||
PubMed search | |||||||||||||
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]
See also
References
- ↑ 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.
- 1 2 "Entrez Gene: EMX2 empty spiracles homeobox 2".
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. PMID 12185771.
- 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. 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.
- 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. 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.
- 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. doi:10.1073/pnas.0403824101. PMC 490017. 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.
- 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
- 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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