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SNAI2 (SNAIL HOMOLOG 2)

Identity

Other namesSLUG
SLUGH
Neural Crest Transcription Factor SLUG
HGNC (Hugo) SNAI2
Location 8q11.21
Location_base_pair Starts at 49992794 and ends at 49996541 bp from pter ( according to hg18-Mar_2006)  [Mapping]
 

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.
  • 1st(from residue 128 to 150)
  • 2nd(from residue 159 to 181)
  • 3rd(from residue 185 to 207)
  • 4th(from residue 213 to 235)
  • 5th(from residue 241 to 264)

    • 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 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).
      

    External links

    Nomenclature
    HGNC (Hugo)SNAI2   11094
    Entrez_Gene (NCBI)SNAI2  6591  snail homolog 2 (Drosophila)
    Cards
    AtlasSNAI2ID453
    GeneCards (Weizmann)SNAI2
    Ensembl (Hinxton)ENSG00000019549 [Gene_View]  SNAI2 [Vega]
    AceView (NCBI)SNAI2
    Genatlas (Paris)SNAI2
    euGene (Indiana)6591
    SOURCE (Stanford)NM_003068
    Genomic and cartography
    GoldenPath (UCSC)SNAI2  -  8q11.21   chr8:49992794-49996541 -  8q11.21   [Description]    (hg18-Mar_2006)
    EnsemblSNAI2 - 8q11.21 [CytoView]
    Mapping of homologs : NCBISNAI2 [Mapview]
    OMIM172800   602150   608890   
    Gene and transcription
    Gene : Genbank (Entrez)AA410443 AK223368 AK312661 BC014890 BC015895
    Reference sequence (RefSeq transcript) :SRSNM_003068
    Reference transcript : EntrezNM_003068
    RefSeq genomic : SRSAC_000051 AC_000140 NC_000008 NT_008183 NW_001839132 NW_923929
    RefSeq genomic : EntrezAC_000051 AC_000140 NC_000008 NT_008183 NW_001839132 NW_923929
    Consensus coding sequences : CCDS NCBISNAI2
    Cluster EST : UnigeneHs.360174 [ SRS ] Hs.360174 [ NCBI ]
    Alternative Splicing : Fast-db (Paris)5043
    Protein : pattern, domain, 3D structure
    Protein : UniProt/SwissProtO43623 (SRS) O43623 (Expasy) O43623 (Uniprot)
    With graphics : InterProO43623
    Splice isoforms : VarSplice FASTAO43623(VarSplice FASTA)
    Domaine pattern : Prosite (SRS)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
    Domain pattern : Prosite (Expaxy)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
    Domains : Interpro (SRS)Znf_C2H2    Znf_C2H2-like    Znf_C2H2/integrase_DNA-bd    Znf_C2H2_sub   
    Domains : Interpro (EBI)Znf_C2H2    Znf_C2H2-like    Znf_C2H2/integrase_DNA-bd    Znf_C2H2_sub   
    Related proteins : CluSTrO43623
    Domain families : Pfam SRSzf-C2H2 (PF00096)   
    Domain families : Pfam Sangerzf-C2H2 (PF00096)   
    Domain families : Pfam NCBIpfam00096   
    Domain families : Smart EMBLZnF_C2H2 (SM00355)
    Domain structure : Prodom (Prabi Lyon)Znf_C2H2 (PD000003)   
    Blocks (Seattle)O43623
    Crystal structure of protein : PDB SRS
    Crystal structure of protein : PDBSum
    Crystal structure of protein : IMB
    Crystal structure of protein : PDB RSDB
    HPRD03689
    Protein Interaction databases
    DIP (DOE-UCLA)O43623
    IntAct (EBI)O43623
    Polymorphism : SNP, mutations, diseases
    Single Nucleotide Polymorphism (SNP) : dbSNP NCBISNAI2
    SNP : GeneSNP UtahSNAI2
    SNP : HGBaseSNAI2
    Genetic variants : HAPMAPSNAI2
    Somatic Mutations in Cancer : COSMICSNAI2 
    Mutations and Diseases : HGMDSNAI2
    Hereditary diseases : OMIM172800    602150    608890   
    Hereditary diseases : GENETests172800    602150    608890   
    Diseases : Genetic AssociationSNAI2
    General knowledge
    Homologs : HomoloGeneSNAI2
    Homology/Alignments : Family Browser UCSCSNAI2
    Phylogenetic Trees/Animal Genes : TreeFamSNAI2
    Chemical/Protein Interactions : CTD6591
    Keywords Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  DNA binding  intracellular  nucleus  transcription  regulation of transcription, DNA-dependent  multicellular organismal development  ectoderm and mesoderm interaction  sensory perception of sound  zinc ion binding  response to radiation  metal ion binding  
    Keywords Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  DNA binding  intracellular  nucleus  transcription  regulation of transcription, DNA-dependent  multicellular organismal development  ectoderm and mesoderm interaction  sensory perception of sound  zinc ion binding  response to radiation  metal ion binding  
    Pathways : BIOCARTA
    Pathways : KEGGAdherens junction
    Other databases
    Probes
    Probes : ImagenesSNAI2 Related clones (RZPD - Berlin)
    Literature
    PubMed37 Pubmed reference(s) in Entrez
    PubGeneSNAI2

    Bibliography

    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
     
    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
     
    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
     
    Conserved and divergent roles for members of the Snail family of transcription factors in the chick and mouse embryo.
    Sefton M, Sˆ°nchez S, Nieto MA
    Development (Cambridge, England). 1998 ; 125 (16) : 3111-3121.
    PMID 9671584
     
    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
     
    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
     
    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
     
    Zinc-finger transcription factor Slug contributes to the function of the stem cell factor c-kit signaling pathway.
    Pˆ©rez-Losada J, Sˆ°nchez-Martˆ‚n M, Rodrˆ‚guez-Garcˆ‚a A, Sˆ°nchez ML, Orfao A, Flores T, Sˆ°nchez-Garcˆ‚a I
    Blood. 2002 ; 100 (4) : 1274-1286.
    PMID 12149208
     
    SLUG (SNAI2) deletions in patients with Waardenburg disease.
    Sˆ°nchez-Martˆ‚n M, Rodrˆ‚guez-Garcˆ‚a A, Pˆ©rez-Losada J, Sagrera A, Read AP, Sˆ°nchez-Garcˆ‚a I
    Human molecular genetics. 2002 ; 11 (25) : 3231-3236.
    PMID 12444107
     
    The radioresistance biological function of the SCF/kit signaling pathway is mediated by the zinc-finger transcription factor Slug.
    Pˆ©rez-Losada J, Sˆ°nchez-Martˆ‚n M, Pˆ©rez-Caro M, Pˆ©rez-Mancera PA, Sˆ°nchez-Garcˆ‚a I
    Oncogene. 2003 ; 22 (27) : 4205-4211.
    PMID 12833143
     
    Deletion of the SLUG (SNAI2) gene results in human piebaldism.
    Sˆ°nchez-Martˆ‚n M, Pˆ©rez-Losada J, Rodrˆ‚guez-Garcˆ‚a A, Gonzˆ°lez-Sˆ°nchez B, Korf BR, Kuster W, Moss C, Spritz RA, Sˆ°nchez-Garcˆ‚a I
    American journal of medical genetics. Part A. 2003 ; 122 (2) : 125-132.
    PMID 12955764
     
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

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    Contributor(s)

    Written04-2004Manuel Sánchez-Martìn, Inés González-Herrero, Isidro Sánchez-Garcìa

    Citation

    This paper should be referenced as such :
    Sánchez-Martìn M, González-Herrero I, Sánchez-Garcìa I . SNAI2 (SNAIL HOMOLOG 2). Atlas Genet Cytogenet Oncol Haematol. April 2004 .
    URL : http://AtlasGeneticsOncology.org/Genes/SNAI2ID453.html

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    indexed on : Sat Jun 27 16:42:01 CEST 2009
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