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SNAI2 (SNAIL HOMOLOG 2)

Identity

Other namesSLUG
SLUGH
Neural Crest Transcription Factor SLUG
HGNC (Hugo) SNAI2
LocusID (NCBI) 6591
Location 8q11.21
Location_base_pair Starts at 49830239 and ends at 49833999 bp from pter ( according to hg19-Feb_2009)  [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
    Cards
    AtlasSNAI2ID453
    Entrez_Gene (NCBI)SNAI2  6591  snail family zinc finger 2
    GeneCards (Weizmann)SNAI2
    Ensembl (Hinxton)ENSG00000019549 [Gene_View]  chr8:49830239-49833999 [Contig_View]  SNAI2 [Vega]
    ICGC DataPortalENSG00000019549
    cBioPortalSNAI2
    AceView (NCBI)SNAI2
    Genatlas (Paris)SNAI2
    WikiGenes6591
    SOURCE (Princeton)NM_003068
    Genomic and cartography
    GoldenPath (UCSC)SNAI2  -  8q11.21   chr8:49830239-49833999 -  8q11.21   [Description]    (hg19-Feb_2009)
    EnsemblSNAI2 - 8q11.21 [CytoView]
    Mapping of homologs : NCBISNAI2 [Mapview]
    OMIM172800   602150   608890   
    Gene and transcription
    Genbank (Entrez)AA410443 AK223368 AK312661 BC014890 BC015895
    RefSeq transcript (Entrez)NM_003068
    RefSeq genomic (Entrez)AC_000140 NC_000008 NC_018919 NG_012130 NT_008183 NW_001839132 NW_004929339
    Consensus coding sequences : CCDS (NCBI)SNAI2
    Cluster EST : UnigeneHs.360174 [ NCBI ]
    CGAP (NCI)Hs.360174
    Alternative Splicing : Fast-db (Paris)GSHG0029565
    Alternative Splicing GalleryENSG00000019549
    Gene ExpressionSNAI2 [ NCBI-GEO ]     SNAI2 [ SEEK ]   SNAI2 [ MEM ]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtO43623 (Uniprot)
    NextProtO43623  [Medical]
    With graphics : InterProO43623
    Splice isoforms : SwissVarO43623 (Swissvar)
    Domaine pattern : Prosite (Expaxy)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
    Domains : Interpro (EBI)Znf_C2H2 [organisation]   Znf_C2H2-like [organisation]   Znf_C2H2/integrase_DNA-bd [organisation]  
    Related proteins : CluSTrO43623
    Domain families : Pfam (Sanger)zf-C2H2 (PF00096)   
    Domain families : Pfam (NCBI)pfam00096   
    Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
    DMDM Disease mutations6591
    Blocks (Seattle)O43623
    Human Protein AtlasENSG00000019549 [gene] [tissue] [antibody] [cell] [cancer]
    Peptide AtlasO43623
    HPRD03689
    IPIIPI00013394   IPI00816318   
    Protein Interaction databases
    DIP (DOE-UCLA)O43623
    IntAct (EBI)O43623
    FunCoupENSG00000019549
    BioGRIDSNAI2
    InParanoidO43623
    Interologous Interaction database O43623
    IntegromeDBSNAI2
    STRING (EMBL)SNAI2
    Ontologies - Pathways
    Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription  osteoblast differentiation  epithelial to mesenchymal transition  epithelial to mesenchymal transition involved in endocardial cushion formation  cell migration involved in endocardial cushion formation  chromatin binding  RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity  nucleus  cytoplasm  transcription from RNA polymerase II promoter  negative regulation of cell adhesion involved in substrate-bound cell migration  Notch signaling pathway  sensory perception of sound  embryo development  negative regulation of keratinocyte proliferation  negative regulation of vitamin D biosynthetic process  neural crest cell development  positive regulation of cell migration  negative regulation of chondrocyte differentiation  regulation of chemokine production  negative regulation of cell adhesion mediated by integrin  positive regulation of histone acetylation  negative regulation of catenin import into nucleus  desmosome disassembly  pigmentation  negative regulation of DNA damage response, signal transduction by p53 class mediator  sequence-specific DNA binding  cellular response to fibroblast growth factor stimulus  positive regulation of fat cell differentiation  regulation of osteoblast differentiation  metal ion binding  white fat cell differentiation  palate development  canonical Wnt signaling pathway  epithelium development  cartilage morphogenesis  regulation of branching involved in salivary gland morphogenesis  negative regulation of vitamin D receptor signaling pathway  cellular response to epidermal growth factor stimulus  cellular response to ionizing radiation  negative regulation of canonical Wnt signaling pathway  negative regulation of canonical Wnt signaling pathway  negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter  negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage  negative regulation of stem cell proliferation  regulation of tight junction assembly  negative regulation of anoikis  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
    Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription  osteoblast differentiation  epithelial to mesenchymal transition  epithelial to mesenchymal transition involved in endocardial cushion formation  cell migration involved in endocardial cushion formation  chromatin binding  RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity  nucleus  cytoplasm  transcription from RNA polymerase II promoter  negative regulation of cell adhesion involved in substrate-bound cell migration  Notch signaling pathway  sensory perception of sound  embryo development  negative regulation of keratinocyte proliferation  negative regulation of vitamin D biosynthetic process  neural crest cell development  positive regulation of cell migration  negative regulation of chondrocyte differentiation  regulation of chemokine production  negative regulation of cell adhesion mediated by integrin  positive regulation of histone acetylation  negative regulation of catenin import into nucleus  desmosome disassembly  pigmentation  negative regulation of DNA damage response, signal transduction by p53 class mediator  sequence-specific DNA binding  cellular response to fibroblast growth factor stimulus  positive regulation of fat cell differentiation  regulation of osteoblast differentiation  metal ion binding  white fat cell differentiation  palate development  canonical Wnt signaling pathway  epithelium development  cartilage morphogenesis  regulation of branching involved in salivary gland morphogenesis  negative regulation of vitamin D receptor signaling pathway  cellular response to epidermal growth factor stimulus  cellular response to ionizing radiation  negative regulation of canonical Wnt signaling pathway  negative regulation of canonical Wnt signaling pathway  negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter  negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage  negative regulation of stem cell proliferation  regulation of tight junction assembly  negative regulation of anoikis  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
    Pathways : BIOCARTADownregulated of MTA-3 in ER-negative Breast Tumors [Genes]   
    Pathways : KEGGHippo signaling pathway    Adherens junction   
    Protein Interaction DatabaseSNAI2
    Wikipedia pathwaysSNAI2
    Gene fusion - rearrangments
    Polymorphisms : SNP, mutations, diseases
    SNP Single Nucleotide Polymorphism (NCBI)SNAI2
    snp3D : Map Gene to Disease6591
    SNP (GeneSNP Utah)SNAI2
    SNP : HGBaseSNAI2
    Genetic variants : HAPMAPSNAI2
    Exome VariantSNAI2
    1000_GenomesSNAI2 
    ICGC programENSG00000019549 
    Somatic Mutations in Cancer : COSMICSNAI2 
    CONAN: Copy Number AnalysisSNAI2 
    Mutations and Diseases : HGMDSNAI2
    Genomic VariantsSNAI2  SNAI2 [DGVbeta]
    dbVarSNAI2
    ClinVarSNAI2
    Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
    Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
    Diseases
    OMIM172800    602150    608890   
    MedgenSNAI2
    GENETestsSNAI2
    Disease Genetic AssociationSNAI2
    Huge Navigator SNAI2 [HugePedia]  SNAI2 [HugeCancerGEM]
    General knowledge
    Homologs : HomoloGeneSNAI2
    Homology/Alignments : Family Browser (UCSC)SNAI2
    Phylogenetic Trees/Animal Genes : TreeFamSNAI2
    Chemical/Protein Interactions : CTD6591
    Chemical/Pharm GKB GenePA35945
    Clinical trialSNAI2
    Cancer Resource (Charite)ENSG00000019549
    Other databases
    Probes
    Litterature
    PubMed149 Pubmed reference(s) in Entrez
    CoreMineSNAI2
    iHOPSNAI2
    OncoSearchSNAI2

    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 :
    Sanchez-MartÌÂn, M ; Gonzalez-Herrero, I ; Sanchez-Garcia, I
    SNAI2 (snail homolog 2)
    Atlas Genet Cytogenet Oncol Haematol. 2004;8(2):78-80.
    Free online version   Free pdf version   [Bibliographic record ]
    URL : http://AtlasGeneticsOncology.org/Genes/SNAI2ID453.html

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    indexed on : Sat Jul 26 15:22:35 CEST 2014

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