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Download Gene Section SPINK7 (serine peptidase inhibitor, Kazal type 7 (putative))
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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Gene Section Mini Review SPINK7 (serine peptidase inhibitor, Kazal type 7 (putative)) Xiying Yu, Shih-Hsin Lu Department of Etiology and Carcinogenesis, Cancer Institute Peking Union, Medical College and Chinese Academy of Medical Sciences Beijing 100021, P.R. China Published in Atlas Database: April 2007 Online updated version: http://AtlasGeneticsOncology.org/Genes/SPINK7ID40396ch5q33.html DOI: 10.4267/2042/15902 This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence. © 2007 Atlas of Genetics and Cytogenetics in Oncology and Haematology Identity Protein Hugo: SPINK7 Other names: ECRG2; ECG2; MGC133105; MGC133106 Location: 5q33.1 Local order: Telomeric to SPINK5L3 and centromeric to SPINK1. Note: The N-terminal 1-19 is the single peptide of the protein. The C-terminal 30-85 of the protein contains a typical x(8)-C-x(6)-C-x(7)-C-x(6)-Y-x(3)-C-x(2,3)-Cx(17)-C conserve region, coding a Kazal type serine protease inhibitors (Kazal) domain. DNA/RNA Description The molecular weight of the encoding protein contained 85 amino acids is about 9.23 kDa. ECRG2 gene contains a typical Kazal serine protease inhibitors conserved domain about 56 amino acids at its Cterminal and three kinase phosphorlation site (protein kinase C, Casein kinase II and Tyrosine kinase). Diagram of ECRG2 gene. Exons are represented by red boxes. Exons 1 to 4 from 5' to 3' direction. Description The ECRG2 gene contains 4 exons and spans about 3540 bp. Expression ECRG2 gene was expressed in normal tissues, such as esophagus, liver, colon and lung. But it was less expressed in the cancerous tissues, especially low frequency of expression of ECRG2 gene in esophageal cancer but was less expressed in the cancerous tissues, especially low frequency of expression of ECRG2 gene in esophageal cancer. Transcription The full-length of cDNA of ECRG2 gene was revealed 569 bp, the open reading frame (ORF) is 258 bp. The sequence upstream of the exon-1 upon the NT_2023158.1 genomic sequence revealed a typical TATA box contained promotor at 44 bp from the predicted translation start site. The transcription start site is just 6 bp upstream of the 5' end sequence. Localisation The protein was localized on the cell membrane. Pseudogene Function None. The expression of ECRG2 can inhibit the migratory ability of high metastasic tumor cells. Atlas Genet Cytogenet Oncol Haematol. 2007;11(4) 283 SPINK7 (serine peptidase inhibitor, Kazal type 7 (putative)) Yu X, Lu SH apoptosis and in various physiological processes. 3. Data suggest that the physical interaction of esophageal cancer related gene 2 (ECRG2) and metallothionein2A (MT2A) may play an important role in the carcinogenesis of esophageal cancer. Homology The sequence of the ECRG2 gene did not reveal remarkable similarity to the known sequence in the homology analysis with the public database of GenBank while the deduced amino acid sequence showed 97% homology to a tumor associated KAZALtype serine protease inhibitor peptide (US patent 5851987). References Su T, Liu H, Lu S. Cloning and identification of cDNA fragments related to human esophageal cancer. Zhonghua Zhong Liu Za Zhi 1998;20(4):254-257. Mutations Cui YP, Wang JB, Zhang XY, Bi MX, Guo LP, Lu SH. Using yeast two-hybrid system to identify ECRG2 associated proteins and their possible interactions with ECRG2 gene. World J Gastroenterol 2003;9(9):1892-1896. Note: None Implicated in Cui Y, Wang J, Zhang X, Lang R, Bi M, Guo L, Lu SH. ECRG2, a novel candidate of tumor suppressor gene in the esophageal carcinoma, interacts directly with metallothionein 2A and links to apoptosis. Biochem Biophys Res Commun 2003;302(4):904-915. Esophageal cancer Note: Expression profile of ECRG2 gene in 7 normal esophageal epithelia, 51 esophageal cancers and 33 tumor adjacent tissues were 100%, 21% and 52% respectively. About 79% of ECRG2 gene was no expressed in the esophageal cancer. ECRG2 was highly expressed in the adult normal esophageal tissue, low expressed in the fetal esophageal tissue and completely loss of expression in the esophageal cancer and corresponding adjacent tissues. The results show that the ECRG2 gene may be a specific gene for carcinogenesis of esophagus. The studies provide more evidences on the role of ECRG2 in the inhibition of tumor cell proliferation, migration and metastasis, and give a straightforward way to block enzymatic activity in extra-cellular matrix to achieve the therapeutic benefit in the tested human cancers. 1. Short tandem repeat polymorphism in a novel esophageal cancer-related gene (ECRG2) implicates susceptibility to esophageal cancer 2. Potential interaction partner for ECRG2 might be involved in regulation of cell proliferation and Atlas Genet Cytogenet Oncol Haematol. 2007;11(4) Yue CM, Bi MX, Tan W, Deng DJ, Zhang XY, Guo LP, Lin DX, Lu SH. Short tandem repeat polymorphism in a novel esophageal cancer-related gene (ECRG2) implicates susceptibility to esophageal cancer in Chinese population. Int J Cancer 2004;108(2):232-236. Huang G, Wang D, Guo L, Zhao N, Li Y, Lu SH. Monoclonal antibodies to esophageal cancer-related gene2 protein. Hybridoma (Larchmt) 2005;24(2):86-91. Li MN, Huang G, Guo LP, Lu SH. Inhibitory effects of esophageal cancer related gene 2 on proliferation of human esophageal cancer cell EC9706. Zhonghua Yi Xue Za Zhi 2005;85(39):2785-2788. Kaifi JT, Cataldegirmen G, Wachowiak R, Schurr PG, Kleinhans H, Kosti G, Yekebas EF, Mann O, Kutup A, Kalinin V, Strate T, Izbicki JR. Short tandem repeat polymorphisms of exon 4 in Kazal-type gene ECRG2 in pancreatic carcinoma and chronic pancreatitis. Anticancer Res 2007;27(1A):69-73. This article should be referenced as such: Yu X, Lu SH. SPINK7 (serine peptidase inhibitor, Kazal type 7 (putative)). Atlas Genet Cytogenet Oncol Haematol.2007; 11(4):283-284. 284