Esophageal Cancer Related Gene 4 (ECRG4)

Yue et al. (2003) reported that they had cloned C2ORF40, which they called ECRG4, from normal human esophageal epithelium. The deduced ECRG4 protein shares 31% homology with mouse IgG V region.Yue et al. (2003) demonstrated that methylation of CpG sites in the ECRG4 promoter correlated with ECRG4 downregulation in 12 (80%) of 15 esophageal squamous cell carcinoma tissues. Normal esophageal epithelium and normal tissues adjacent to tumors showed high ECRG4 expression and lacked promoter methylation. SAGE and RT-PCR analysis showed an inverse relationship between ECRG4 expression level and hypermethylation.Yue et al. (2003) determined that the C2ORF40 gene contains 4 exons spanning about 13 kb. The 5-prime UTR contains multiple cis-acting elements and 16 CpG islands.