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Engrailed homeobox 2 (Gene EN2) Homo sapiensThe EN2 (gene locus: Entrez: 7q36; Ensembl 7q36.3; HGNC: 7q36.2) gene product, homeobox protein engrailed-2, is a 333 AA (34.2 kDa) homeobox transcription factor that contains a 60 AA (244-303) DNA-binding homeobox. Engrailed-2 (EN2) is expressed throughout the mid-hindbrain region during brain development. It is expressed in all neuronal groups of the medulla and throughout the cerebellum including the cerebellar granule cell layers, white matter of the vermis and flocculus, inferior olive, arcuate nucleus, caudal raphe nuclei, corpus pontobulbare and nucleus ambiguus, Zec N, et al. (1997). En-2 is essential for the formation of the mesencephalon and metencephalon and patterning the region that determines the cerebellum. Mutations of EN2 have been associated with agenesis of the mesencephalon and metencephalon and cerebellar hypoplasia, Sarnat HB et al. (2002). Engrailed-2 is involved with the etiology of autistic spectrum disorders (MIM 209850) and Parkinson’s disease (PD). Autism is a heterogeneous disorder characterized by impairment in communications and social interactions, and the presence of stereotyped behaviors. Parkinson’s disease is a degenerative condition of the CNS that manifests as a collection of movement disorders. Parkinson’s disease is linked to the loss of mesencephalic dopaminergic neurons (mesDA) from the substantia nigra. The potential role of EN-2 in Autism has been studied recently with complicated results. The difficulties of linking genes such as EN-2 with the complex autism disorder were reviewed recently by Bartlett CW, et al. (2005). Zhong H, et al. (2003) reported that there is no association between EN2 and autism. However, Gharani N, et al. (2004) and Benayed R, et al. (2005) showed an association between ASD (autistic spectrum disorders (MIM 209850)) and two intronic SNPs (rs1861972 and rs1861973) within the human EN2 gene and EN2 has become a gene of great interest in the study of autism, Kuemerle B, et al. (2007); Brune CW, et al. (2008); Wang L, et al. (2008); Yang P, et al. (2008). The potential role of EN-2 and EN-1 in Parkinson’s disease has been envisioned based on the findings that both EN-2 and EN-1 are anti-apoptotic maintenance factors for postmitotic differentiated mesDA neurons, Simon HH, et al. (2004). Recent work has shown that the loss of EN gene function can induce a phenotype that resembles the key pathology of Parkinson’s disease, Sgadò P, et al. (2006). The anti-apoptotic property of engrailed-2 may play a role in select types of cancer. EN2 has recently been identified as a candidate oncology gene in human breast cancer where it is required for maintenance of the transformed phenotype of a human breast tumor cell line, Martin NL, et al. (2005). Sigma offers antibodies and shRNAs useful for the study of EN2/Engrailed-2 gene products. References: Bartlett CW, et al. (2005) Three autism candidate genes: a synthesis of human genetic analysis with other disciplines. Int J Dev Neurosci. 2005 Apr-May;23(2-3):221-34. |
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