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EN2 (gene): Wikis

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Engrailed homeobox 2
Identifiers
Symbols EN2; AUTS1
External IDs OMIM131310 MGI95390 HomoloGene55579 GeneCards: EN2 Gene
RNA expression pattern
PBB GE EN2 207060 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2020 13799
Ensembl ENSG00000164778 ENSMUSG00000039095
UniProt P19622 Q3TZM2
RefSeq (mRNA) NM_001427 NM_010134
RefSeq (protein) NP_001418 NP_034264
Location (UCSC) Chr 7:
154.94 - 154.95 Mb
Chr 5:
28.5 - 28.5 Mb
PubMed search [1] [2]

Homeobox protein engrailed-2 is a protein that in humans is encoded by the EN2 gene.[1]

Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system.[1]

References

Further reading

  • Logan C, Hanks MC, Noble-Topham S, et al. (1993). "Cloning and sequence comparison of the mouse, human, and chicken engrailed genes reveal potential functional domains and regulatory regions.". Dev. Genet. 13 (5): 345–58. doi:10.1002/dvg.1020130505. PMID 1363401.  
  • Joyner AL, Herrup K, Auerbach BA, et al. (1991). "Subtle cerebellar phenotype in mice homozygous for a targeted deletion of the En-2 homeobox.". Science 251 (4998): 1239–43. doi:10.1126/science.1672471. PMID 1672471.  
  • Poole SJ, Law ML, Kao FT, Lau YF (1989). "Isolation and chromosomal localization of the human En-2 gene.". Genomics 4 (3): 225–31. doi:10.1016/0888-7543(89)90324-8. PMID 2565873.  
  • Logan C, Willard HF, Rommens JM, Joyner AL (1989). "Chromosomal localization of the human homeo box-containing genes, EN1 and EN2.". Genomics 4 (2): 206–9. doi:10.1016/0888-7543(89)90301-7. PMID 2567700.  
  • Kozmik Z, Sure U, Rüedi D, et al. (1995). "Deregulated expression of PAX5 in medulloblastoma.". Proc. Natl. Acad. Sci. U.S.A. 92 (12): 5709–13. doi:10.1073/pnas.92.12.5709. PMID 7777574.  
  • Joliot A, Trembleau A, Raposo G, et al. (1997). "Association of Engrailed homeoproteins with vesicles presenting caveolae-like properties.". Development 124 (10): 1865–75. PMID 9169834.  
  • , (1998). "A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium.". Hum. Mol. Genet. 7 (3): 571–8. doi:10.1093/hmg/7.3.571. PMID 9546821.  
  • "Toward a complete human genome sequence.". Genome Res. 8 (11): 1097–108. 1999. PMID 9847074.  
  • Philippe A, Martinez M, Guilloud-Bataille M, et al. (1999). "Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study.". Hum. Mol. Genet. 8 (5): 805–12. doi:10.1093/hmg/8.5.805. PMID 10196369.  
  • Risch N, Spiker D, Lotspeich L, et al. (1999). "A genomic screen of autism: evidence for a multilocus etiology.". Am. J. Hum. Genet. 65 (2): 493–507. doi:10.1086/302497. PMID 10417292.  
  • Ashley-Koch A, Wolpert CM, Menold MM, et al. (2000). "Genetic studies of autistic disorder and chromosome 7.". Genomics 61 (3): 227–36. doi:10.1006/geno.1999.5968. PMID 10552924.  
  • Barrett S, Beck JC, Bernier R, et al. (2000). "An autosomal genomic screen for autism. Collaborative linkage study of autism.". Am. J. Med. Genet. 88 (6): 609–15. PMID 10581478.  
  • Sarnat HB, Benjamin DR, Siebert JR, et al. (2002). "Agenesis of the mesencephalon and metencephalon with cerebellar hypoplasia: putative mutation in the EN2 gene--report of 2 cases in early infancy.". Pediatr. Dev. Pathol. 5 (1): 54–68. doi:10.1007/s10024-001-0103-5. PMID 11815869.  
  • 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. PMID 12477932.  
  • Zhong H, Serajee FJ, Nabi R, Huq AH (2003). "No association between the EN2 gene and autistic disorder.". J. Med. Genet. 40 (1): e4. doi:10.1136/jmg.40.1.e4. PMID 12525552.  
  • Foucher I, Montesinos ML, Volovitch M, et al. (2003). "Joint regulation of the MAP1B promoter by HNF3beta/Foxa2 and Engrailed is the result of a highly conserved mechanism for direct interaction of homeoproteins and Fox transcription factors.". Development 130 (9): 1867–76. doi:10.1242/dev.00414. PMID 12642491.  
  • Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology.". Science 300 (5620): 767–72. doi:10.1126/science.1083423. PMID 12690205.  
  • Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7.". Nature 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.  
  • Gharani N, Benayed R, Mancuso V, et al. (2004). "Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder.". Mol. Psychiatry 9 (5): 474–84. doi:10.1038/sj.mp.4001498. PMID 15024396.  
  • Hjerrild M, Stensballe A, Rasmussen TE, et al. (2004). "Identification of phosphorylation sites in protein kinase A substrates using artificial neural networks and mass spectrometry.". J. Proteome Res. 3 (3): 426–33. doi:10.1021/pr0341033. PMID 15253423.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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