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EN2  -  engrailed homeobox 2

Homo sapiens

Synonyms: Homeobox protein en-2, Homeobox protein engrailed-2, Hu-En-2
 
 
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Disease relevance of EN2

  • EN1, EN2, and PAX6 genes were also expressed in normal cerebellar tissue, and their expression in medulloblastoma is consistent with the hypothesis that this tumor originates in the external granular layer of the developing cerebellum [1].
  • We provide evidence that EN2 is ectopically expressed in a subset of human breast cancer and may have a causal role in mammary tumorigenesis [2].
 

Psychiatry related information on EN2

 

High impact information on EN2

 

Biological context of EN2

  • The human EN2 gene was localized to chromosome 7, 7q32-7qter, by analysis of rodent-human somatic cell hybrids and cell lines carrying portions of chromosome 7 [7].
  • Exposure in utero to maternal smoking may strongly interfere with brain biological parameters, giving rise not only to structural developmental abnormalities of the arcuate nucleus, but also to a decrease of noradrenergic activity in the LC, of EN2 gene expression in the ArcN and of SS in the HypoglN [8].
 

Anatomical context of EN2

  • The RNA signal for both EN1 and EN2 was strongest in the cerebellar granule cell layers, white matter of the vermis and flocculus, inferior olive, arcuate nucleus, caudal raphe nuclei, corpus pontobulbare and nucleus ambiguus [9].
  • Agenesis of the mesencephalon and metencephalon with cerebellar hypoplasia: putative mutation in the EN2 gene--report of 2 cases in early infancy [10].
  • We observed a significant correlation between maternal smoking and sudden intrauterine unexplained death (SIUD), hypoplasia of the ArcN, no immunostaining of the EN2 in the arcuate nucleus (ArcN), and of TH in the locus coeruleus (LC) (P < 0.05) [8].
  • The homeogene Engrailed 2 (EN2) is specifically involved in patterning the region that gives rise to the cerebellum and controls the plasticity of midbrain dopaminergic neurons [11].
 

Associations of EN2 with chemical compounds

  • These data provide a possible explanation for the previously reported lack of cytotoxicity of the isocarbostyril- and difluorophenyl nucleosides, but potential mitochondrial effects of EN2, JW1 and JW2 should be further investigated [12].
 

Other interactions of EN2

  • Chromosomal localization of the human homeo box-containing genes, EN1 and EN2 [7].
  • GBX1 and EN-2 have been mapped to chromosome 7q36 [13].
  • The analogue 1-(2-deoxy-beta-D-ribofuranosyl)-7-iodoisocarbostyril (EN2) showed poor relative-phosphorylation efficiencies (kcat/Km) with both TK1 and dGK, but not with TK2 [12].
  • Expression of the homeobox-containing genes EN1 and EN2 in human fetal midgestational medulla and cerebellum [9].
  • Under normal conditions, EN2 and mature entactin were intracellular species, and the latter was sulfated and secreted [14].
 

Analytical, diagnostic and therapeutic context of EN2

  • Radiation hybrid mapping of a DNA fragment containing intron 13 of the chicken Lmbr1 assigned the gene to chromosome 2 between MCW071 (a marker within the EN2 gene) and ADL0270, a syntenic region to human 7q36 [15].

References

  1. Deregulated expression of PAX5 in medulloblastoma. Kozmik, Z., Sure, U., Rüedi, D., Busslinger, M., Aguzzi, A. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  2. EN2 is a candidate oncogene in human breast cancer. Martin, N.L., Saba-El-Leil, M.K., Sadekova, S., Meloche, S., Sauvageau, G. Oncogene (2005) [Pubmed]
  3. No association between the EN2 gene and autistic disorder. Zhong, H., Serajee, F.J., Nabi, R., Huq, A.H. J. Med. Genet. (2003) [Pubmed]
  4. Cleft lip with or without cleft palate: associations with transforming growth factor alpha and retinoic acid receptor loci. Chenevix-Trench, G., Jones, K., Green, A.C., Duffy, D.L., Martin, N.G. Am. J. Hum. Genet. (1992) [Pubmed]
  5. Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder. Gharani, N., Benayed, R., Mancuso, V., Brzustowicz, L.M., Millonig, J.H. Mol. Psychiatry (2004) [Pubmed]
  6. An SstI RFLP for the human homeo box-containing gene EN2. Logan, C., Joyner, A.L. Nucleic Acids Res. (1989) [Pubmed]
  7. Chromosomal localization of the human homeo box-containing genes, EN1 and EN2. Logan, C., Willard, H.F., Rommens, J.M., Joyner, A.L. Genomics (1989) [Pubmed]
  8. Adverse effects of prenatal tobacco smoke exposure on biological parameters of the developing brainstem. Lavezzi, A.M., Ottaviani, G., Matturri, L. Neurobiol. Dis. (2005) [Pubmed]
  9. Expression of the homeobox-containing genes EN1 and EN2 in human fetal midgestational medulla and cerebellum. Zec, N., Rowitch, D.H., Bitgood, M.J., Kinney, H.C. J. Neuropathol. Exp. Neurol. (1997) [Pubmed]
  10. Agenesis of the mesencephalon and metencephalon with cerebellar hypoplasia: putative mutation in the EN2 gene--report of 2 cases in early infancy. Sarnat, H.B., Benjamin, D.R., Siebert, J.R., Kletter, G.B., Cheyette, S.R. Pediatr. Dev. Pathol. (2002) [Pubmed]
  11. Cerebellum development and schizophrenia: an association study of the human homeogene Engrailed 2. Gourion, D., Leroy, S., Bourdel, M.C., Goldberger, C., Poirier, M.F., Olié, J.P., Krebs, M.O. Psychiatry research. (2004) [Pubmed]
  12. Phosphorylation of isocarbostyril- and difluorophenyl-nucleoside thymidine mimics by the human deoxynucleoside kinases. Al-Madhoun, A.S., Eriksson, S., Wang, Z.X., Naimi, E., Knaus, E.E., Wiebe, L.I. Nucleosides Nucleotides Nucleic Acids (2004) [Pubmed]
  13. The HOX complex neighbored by the EVX gene, as well as two other homeobox-containing genes, the GBX-class and the EN-class, are located on the same chromosomes 2 and 7 in humans. Matsui, T., Hirai, M., Hirano, M., Kurosawa, Y. FEBS Lett. (1993) [Pubmed]
  14. Tyrosine sulfation is not the last modification of entactin before its secretion from 3T3-L1 adipocytes. Aratani, Y., Kitagawa, Y. FEBS Lett. (1988) [Pubmed]
  15. Single nucleotide polymorphisms in the chicken Lmbr1 gene are associated with chicken polydactyly. Huang, Y.Q., Deng, X.M., Du, Z.Q., Qiu, X., Du, X., Chen, W., Morisson, M., Leroux, S., Ponce de Léon, F.A., Da, Y., Li, N. Gene (2006) [Pubmed]
 
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