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    SNAI2 snail family transcriptional repressor 2 [ Homo sapiens (human) ]

    Gene ID: 6591, updated on 16-Jul-2017
    Official Symbol
    SNAI2provided by HGNC
    Official Full Name
    snail family transcriptional repressor 2provided by HGNC
    Primary source
    HGNC:HGNC:11094
    See related
    Ensembl:ENSG00000019549 MIM:602150; Vega:OTTHUMG00000149912
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SLUG; WS2D; SLUGH; SLUGH1; SNAIL2
    Summary
    This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    8q11.21
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (48917677..48921440, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (49830236..49833999, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene EF-hand calcium binding domain 1 Neighboring gene uncharacterized LOC105375825 Neighboring gene uncharacterized LOC107986942 Neighboring gene chromosome 8 open reading frame 22

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Partial albinism
    MedGen: C0080024 OMIM: 172800 GeneReviews: Not available
    Compare labs
    Waardenburg syndrome type 2D
    MedGen: C1837203 OMIM: 608890 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of snail homolog 2 (Drosophila) (SNAI2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Vpu vpu HIV-1 Vpu leads to the depression of both total and beta-catenin-associated E-cadherin levels through Vpu-induced upregulation of the transcriptional repressor Snail PubMed
    vpu HIV-1 Vpu upregulates the expression of Snail in HeLa cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC10182

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    Notch signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cartilage morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cell migration involved in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to epidermal growth factor stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to fibroblast growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to ionizing radiation IEA
    Inferred from Electronic Annotation
    more info
     
    desmosome disassembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    epithelial to mesenchymal transition involved in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    epithelium development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of DNA damage response, signal transduction by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of anoikis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of catenin import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell adhesion involved in substrate-bound cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell adhesion mediated by integrin IC
    Inferred by Curator
    more info
    PubMed 
    negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of chondrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of extrinsic apoptotic signaling pathway in absence of ligand ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of keratinocyte proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of vitamin D biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of vitamin D receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neural crest cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    osteoblast differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    palate development IEA
    Inferred from Electronic Annotation
    more info
     
    pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of histone acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of bicellular tight junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of branching involved in salivary gland morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of chemokine production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    white fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    zinc finger protein SNAI2
    Names
    neural crest transcription factor SLUG
    protein snail homolog 2
    slug (chicken homolog), zinc finger protein
    snail family zinc finger 2
    snail homolog 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012130.1 RefSeqGene

      Range
      4990..8753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003068.4NP_003059.1  zinc finger protein SNAI2

      See identical proteins and their annotated locations for NP_003059.1

      Status: REVIEWED

      Source sequence(s)
      AC013701, BC015895, DA522147
      Consensus CDS
      CCDS6146.1
      UniProtKB/Swiss-Prot
      O43623
      Related
      ENSP00000020945.1, ENST00000020945.3
      Conserved Domains (5) summary
      COG5048
      Location:182258
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:187207
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:130150
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:213235
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:200223
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      48917677..48921440 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      49882550..49886313 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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