| Written | 2004-04 | Manuel Sánchez-Martìn, Inés González-Herrero, Isidro Sánchez-Garcìa |
| Laboratorio 13, Instituto de Biologia Molecular y Celular del Cancer (IBMCC), Centro de Investigacion del Cancer, Campus Unamuno, 37.007-Salamanca, Spain |
| Identity |
| Alias_names | SLUG |
| slug homolog, zinc finger protein (chicken) | |
| snail homolog 2 (Drosophila) | |
| snail family zinc finger 2 | |
| Alias_symbol (synonym) | SLUGH1 |
| SNAIL2 | |
| Other alias | SLUGH |
| Neural Crest Transcription Factor SLUG | |
| HGNC (Hugo) | SNAI2 |
| LocusID (NCBI) | 6591 |
| Atlas_Id | 453 |
| Location | 8q11.21 [Link to chromosome band 8q11] |
| Location_base_pair | Starts at 48917681 and ends at 48921440 bp from pter ( according to hg19-Feb_2009) [Mapping SNAI2.png] |
 | |
| DNA/RNA |
| Description | SNAI2 is a neurogenic transcription factor belonging to the SNAIL family implicated in the epithelial-mesenchymal transition and cell survival, in important morphogenetic processes during embryo development and in tumor metastasis. The gene has 3 exons (243bp, 546bp,1299bp). |
| Transcription | Transcript length: 2.2Kb. |
| Protein |
 | |
| Description | SNAI2 is a zinc-finger transcription factor. Translation length: 268 residues (79bp 1st exon, 546bp 2nd exon, 181bp 3rd exon). Zinc-finger information : Type: C2H2 ; Number of domains: 5. |
| Expression | Placenta, adult heart, pancreas, liver, kidney and skeletal muscle. |
| Localisation | Nuclear (probable). |
| Function | Transcriptional repressor implicated in the epithelial-mesenchymal transition and cell survival. |
| Homology | The human SLUG protein is 95, 93, and 88% homologous to mouse, chicken, and Xenopus slug, respectively, but it shows only 47% homology to mouse Snail. The zinc finger region is 100% identical between human and mouse Slug. |
| Implicated in |
| Note | |
| Note | SNAI2 is a vertebrate gene encoding a zinc finger protein of the Snail family implicated in the epithelial-mesenchymal transition and cell survival. It was identified in the neural crest and in mesodermal cells emigrating from the primitive streak in chick embryos. It is involved in chick limb development and has conserved and divergent roles in the chick and mouse embryo. Human SNAI2 maps to the long arm of chromosome 8 (8q11.21), contains 3 exons and codes for a protein of 268bp (29KDa) with 5 zinc finger regions. This gene has been identified as downstream target of E2A-HLF oncoprotein and its expression is strongly correlated with loss of E-cadherin. SNAI2 contributes to the function of the stem cell factor c-kit signaling pathway and mediates the radioresistance biological function of the SCF/kit. The alterations of this gene have been associated to different human syndromes. |
| Disease | Missense mutation has been identified in patients with neural tube defects. Deletions of the SNAI2 gene results in human piebaldism, a cancer prone disease, and has been detected in patients with Waardenburg disease. Duplication of SNAI2 gene is implicated in a rare congenital heart disease (data submitted). |
| Bibliography |
| Human SLUG gene organization, expression, and chromosome map location on 8q. |
| Cohen ME, Yin M, Paznekas WA, Schertzer M, Wood S, Jabs EW |
| Genomics. 1998 ; 51 (3) : 468-471. |
| PMID 9721220 |
| The SLUG zinc-finger protein represses E-cadherin in breast cancer. |
| Hajra KM, Chen DY, Fearon ER |
| Cancer research. 2002 ; 62 (6) : 1613-1618. |
| PMID 11912130 |
| Slug, a highly conserved zinc finger transcriptional repressor, protects hematopoietic progenitor cells from radiation-induced apoptosis in vivo. |
| Inoue A, Seidel MG, Wu W, Kamizono S, Ferrando AA, Bronson RT, Iwasaki H, Akashi K, Morimoto A, Hitzler JK, Pestina TI, Jackson CW, Tanaka R, Chong MJ, McKinnon PJ, Inukai T, Grosveld GC, Look AT |
| Cancer cell. 2002 ; 2 (4) : 279-288. |
| PMID 12398892 |
| SLUG, a ces-1-related zinc finger transcription factor gene with antiapoptotic activity, is a downstream target of the E2A-HLF oncoprotein. |
| Inukai T, Inoue A, Kurosawa H, Goi K, Shinjyo T, Ozawa K, Mao M, Inaba T, Look AT |
| Molecular cell. 1999 ; 4 (3) : 343-352. |
| PMID 10518215 |
| Control of cell behavior during vertebrate development by Slug, a zinc finger gene. |
| Nieto MA, Sargent MG, Wilkinson DG, Cooke J |
| Science (New York, N.Y.). 1994 ; 264 (5160) : 835-839. |
| PMID 7513443 |
| The radioresistance biological function of the SCF/kit signaling pathway is mediated by the zinc-finger transcription factor Slug. |
| Pérez-Losada J, S´nchez-Martí M, Pérez-Caro M, Pérez-Mancera PA, S´nchez-Garcí I |
| Oncogene. 2003 ; 22 (27) : 4205-4211. |
| PMID 12833143 |
| Slug, a zinc finger gene previously implicated in the early patterning of the mesoderm and the neural crest, is also involved in chick limb development. |
| Ros MA, Sefton M, Nieto MA |
| Development (Cambridge, England). 1997 ; 124 (9) : 1821-1829. |
| PMID 9165129 |
| Deletion of the SLUG (SNAI2) gene results in human piebaldism. |
| S´nchez-Martí M, Pérez-Losada J, Rodríguez-Garcí A, Gonz´lez-S´nchez B, Korf BR, Kuster W, Moss C, Spritz RA, S´nchez-Garcí I |
| American journal of medical genetics. Part A. 2003 ; 122 (2) : 125-132. |
| PMID 12955764 |
| Conserved and divergent roles for members of the Snail family of transcription factors in the chick and mouse embryo. |
| Sefton M, S´nchez S, Nieto MA |
| Development (Cambridge, England). 1998 ; 125 (16) : 3111-3121. |
| PMID 9671584 |
| Human transcription factor SLUG: mutation analysis in patients with neural tube defects and identification of a missense mutation (D119E) in the Slug subfamily-defining region. |
| Stegmann K, Boecker J, Kosan C, Ermert A, Kunz J, Koch MC |
| Mutation research. 1999 ; 406 (2-4) : 63-69. |
| PMID 10479723 |
| Citation |
| This paper should be referenced as such : |
| Sanchez-Martn, M ; Gonzalez-Herrero, I ; Sanchez-Garcia, I |
| SNAI2 (snail homolog 2) |
| Atlas Genet Cytogenet Oncol Haematol. 2004;8(2):78-80. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/SNAI2ID453.html |
| Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ] |
|
t(9;13)(p12;q21) PAX5/DACH1
|
| Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 2 ] |
| Piebaldism Waardenburg syndrome (WS) |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:18:38 CEST 2017 |
For comments and suggestions or contributions, please contact us