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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SNAI2 Gene

protein-coding   GIFtS: 66
GCID: GC08M049830

Snail Family Zinc Finger 2

(Previous names: slug homolog, zinc finger protein (chicken), snail homolog...)
(Previous symbol: SLUG)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Snail Family Zinc Finger 21 2     SLUGH12
SLUG1 2 3 5     SNAIL22
Neural Crest Transcription Factor Slug2 3     Slug (Chicken Homolog), Zinc Finger Protein2
Protein Snail Homolog 22 3     Snail Homolog 22
WS2D2 5     Zinc Finger Protein SNAI22
Slug Homolog, Zinc Finger Protein (Chicken)1     SLUGH3
Snail Homolog 2 (Drosophila)1     

External Ids:    HGNC: 110941   Entrez Gene: 65912   Ensembl: ENSG000000195497   OMIM: 6021505   UniProtKB: O436233   

Export aliases for SNAI2 gene to outside databases

Previous GC identifers: GC08M048854 GC08M049834 GC08M049553 GC08M049880 GC08M049992 GC08M045294


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SNAI2 Gene:
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)

GeneCards Summary for SNAI2 Gene: 
SNAI2 (snail family zinc finger 2) is a protein-coding gene. Diseases associated with SNAI2 include waardenburg syndrome type iid, and piebald trait, snai2-related, and among its related super-pathways are MAPK Signaling and Kit Receptor Signaling Pathway. GO annotations related to this gene include RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is SNAI1.

UniProtKB/Swiss-Prot: SNAI2_HUMAN, O43623
Function: Transcriptional repressor that modulates both activator-dependent and basal transcription. Involved in
the generation and migration of neural crest cells. Plays a role in mediating RAF1-induced transcriptional
repression of the TJ protein, occludin (OCLN) and subsequent oncogenic transformation of epithelial cells (By
similarity). Represses BRCA2 expression by binding to its E2-box-containing silencer and recruiting CTBP1 and
HDAC1 in breast cells. In epidermal keratinocytes, binds to the E-box in ITGA3 promoter and represses its
transcription. Involved in the regulation of ITGB1 and ITGB4 expression and cell adhesion and proliferation in
epidermal keratinocytes. Binds to E-box2 domain of BSG and activates its expression during TGFB1-induced
epithelial-mesenchymal transition (EMT) in hepatocytes. Represses E-Cadherin/CDH1 transcription via E-box
elements. Involved in osteoblast maturation. Binds to RUNX2 and SOC9 promoters and may act as a positive and
negative transcription regulator, respectively, in osteoblasts. Binds to CXCL12 promoter via E-box regions in
mesenchymal stem cells and osteoblasts. Plays an essential role in TWIST1-induced EMT and its ability to promote
invasion and metastasis

Gene Wiki entry for SNAI2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_008183.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SNAI2 gene promoter:
         Oct-B1   oct-B3   oct-B2   MyoD   C/EBPalpha   CREB   AREB6   POU2F1   deltaCREB   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNAI2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SNAI2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNAI2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q11   Ensembl cytogenetic band:  8q11.21   HGNC cytogenetic band: 8q11.21

SNAI2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNAI2 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M049830:  view genomic region     (about GC identifiers)

Start:
49,830,236 bp from pter      End:
49,834,299 bp from pter
Size:
4,064 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SNAI2_HUMAN, O43623 (See protein sequence)
Recommended Name: Zinc finger protein SNAI2  
Size: 268 amino acids; 29986 Da
Subunit: Interacts (via SNAG domain) with LIMD1 (via LIM domains), WTIP (via LIM domains) and AJUBA (via LIM
domains) (By similarity). Interacts (via zinc fingers) with KPNA2, KPNB1, and TNPO1. May interact (via zinc
fingers) with IPO7
Subcellular location: Nucleus. Cytoplasm. Note=Observed in discrete foci in interphase nuclei. These nuclear foci
do not overlap with the nucleoli, the SP100 and the HP1 heterochromatin or the coiled body, suggesting SNAI2 is
associated with active transcription or active splicing regions
Secondary accessions: B2R6P6 Q53FC1

Explore the universe of human proteins at neXtProt for SNAI2: NX_O43623

Explore proteomics data for SNAI2 at MOPED 

Post-translational modifications:

  • UniProtKB: GSK3B-mediated phosphorylation results in cytoplasmic localization and degradation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43623

  • SNAI2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SNAI2 Protein Expression
    REFSEQ proteins: NP_003059.1  
    ENSEMBL proteins: 
     ENSP00000380034   ENSP00000020945  

    Human Recombinant Protein Products for SNAI2: 
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    Sino Biological Recombinant Protein for SNAI2
    Sino Biological Cell Lysate for SNAI2 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SNAI2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA19756381
    GO:0005634nucleus IDA10866665
    GO:0005737cytoplasm IEA--

    SNAI2 for ontologies           About GeneDecksing



    SNAI2 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SNAI2
    R&D Systems Antibodies for SNAI2 (Slug)
    Cell Signaling Technology (CST) Antibodies for SNAI2  (Snail2)
    OriGene Antibodies for SNAI2
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    GenScript Superior Antibodies for SNAI2
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    Abcam antibodies for SNAI2
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    ThermoFisher Antibodies for SNAI2
    LSBio Antibodies in human, mouse, rat for SNAI2 

    Assay Products for SNAI2: 
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    Cloud-Clone Corp. ELISAs for SNAI2 
    Cloud-Clone Corp. CLIAs for SNAI2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SNAI: Snail homologs
    ZNF: Zinc fingers, C2H2-type

    3 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry O43623

    ProtoNet protein and cluster: O43623

    1 Blocks protein domain: IPB007086 C2H2-type zinc finger signature

    UniProtKB/Swiss-Prot: SNAI2_HUMAN, O43623
    Domain: Repression activity depends on the C-terminal DNA-binding zinc fingers and on the N-terminal repression
    domain
    Similarity: Belongs to the snail C2H2-type zinc-finger protein family
    Similarity: Contains 5 C2H2-type zinc fingers


    SNAI2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SNAI2_HUMAN, O43623
    Function: Transcriptional repressor that modulates both activator-dependent and basal transcription. Involved in
    the generation and migration of neural crest cells. Plays a role in mediating RAF1-induced transcriptional
    repression of the TJ protein, occludin (OCLN) and subsequent oncogenic transformation of epithelial cells (By
    similarity). Represses BRCA2 expression by binding to its E2-box-containing silencer and recruiting CTBP1 and
    HDAC1 in breast cells. In epidermal keratinocytes, binds to the E-box in ITGA3 promoter and represses its
    transcription. Involved in the regulation of ITGB1 and ITGB4 expression and cell adhesion and proliferation in
    epidermal keratinocytes. Binds to E-box2 domain of BSG and activates its expression during TGFB1-induced
    epithelial-mesenchymal transition (EMT) in hepatocytes. Represses E-Cadherin/CDH1 transcription via E-box
    elements. Involved in osteoblast maturation. Binds to RUNX2 and SOC9 promoters and may act as a positive and
    negative transcription regulator, respectively, in osteoblasts. Binds to CXCL12 promoter via E-box regions in
    mesenchymal stem cells and osteoblasts. Plays an essential role in TWIST1-induced EMT and its ability to promote
    invasion and metastasis

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001078RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA10866665
    GO:0003682chromatin binding IEA--
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding ----
         
    SNAI2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SNAI2:
     Decreased viability with pacli 

         15/16 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Snai2) (see all 16):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size  hematopoietic system  immune system  integument 
     mortality/aging  nervous system  pigmentation  reproductive system  skeleton 

    SNAI2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SNAI2: Snai2tm1Look Snai2tm2Grid

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SNAI2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SNAI2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SNAI2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SNAI2 

    miRNA
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    miRTarBase miRNAs that target SNAI2:
    hsa-mir-204 (MIRT003273), hsa-mir-124 (MIRT002716)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SNAI2
    8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate SNAI2 (see all 19):
    hsa-miR-30c hsa-miR-485-3p hsa-miR-30d hsa-miR-374c hsa-miR-890 hsa-miR-30a hsa-miR-124 hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidSNAI2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Clone
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    GenScript: all cDNA clones in your preferred vector: SNAI2 (NM_003068)
    Sino Biological Human cDNA Clone for SNAI2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNAI2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNAI2
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    PureStem SK11, NCr-fac & Meso-prx Progenitor
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNAI2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SNAI2 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Rho Family GTPases
    ILK Signaling0.49
    2Signaling events mediated by Stem cell factor receptor (c-Kit)
    Signaling events mediated by Stem cell factor receptor (c-Kit)0.37
    3PAK Pathway
    Epithelial Adherens Junctions0.36
    4Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch
    5Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SNAI2
        ILK Signaling
    Epithelial Adherens Junctions

    1 Cell Signaling Technology (CST) Pathway for SNAI2
        Wnt / Hedgehog / Notch

    4 BioSystems Pathways for SNAI2
        Neural Crest Differentiation
    Signaling events mediated by Stem cell factor receptor (c-Kit)
    Direct p53 effectors
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription



    2         Kegg Pathways  (Kegg details for SNAI2):
        Hippo signaling pathway
    Adherens junction


    SNAI2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SNAI2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/11 Interacting proteins for SNAI2 (O436233 ENSP000000209454) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HDAC1Q135473, ENSP000003626494I2D: score=1 STRING: ENSP00000362649
    HDAC2Q927693, ENSP000003813314I2D: score=1 STRING: ENSP00000381331
    SSX7Q7RTT53I2D: score=1 
    BBC3ENSP000004045034STRING: ENSP00000404503
    CTNNB1ENSP000003444564STRING: ENSP00000344456
    About this table

    Gene Ontology (GO): 5/42 biological process terms (GO ID links to tree view) (see all 42):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP18663143
    GO:0001649osteoblast differentiation IEP--
    GO:0001837epithelial to mesenchymal transition IMP17984306
    GO:0003198epithelial to mesenchymal transition involved in endocardial cushion formation ISS--
    GO:0003273cell migration involved in endocardial cushion formation ISS--

    SNAI2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SNAI2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SNAI2

    4 Novoseek inferred chemical compound relationships for SNAI2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    matrigel 32.2 1 19681038 (1)
    estrogen 26.2 4 18550773 (1), 20015012 (1)
    zinc 21.8 6 12579345 (2), 20128911 (1), 7513443 (1), 9165129 (1) (see all 5)
    tyrosine 0 1 20388540 (1)

    Search CenterWatch for drugs/clinical trials and news about SNAI2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SNAI2 gene: 
    NM_003068.4  

    Unigene Cluster for SNAI2:

    Snail homolog 2 (Drosophila)
    Hs.360174  [show with all ESTs]
    Unigene Representative Sequence: NM_003068
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396822 ENST00000020945(uc003xqp.3)
    miRNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SNAI2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SNAI2

    Additional mRNA sequence: 

    AK223368.1 AK312661.1 BC014890.1 BC015895.1 U97060.1 

    6 DOTS entries:

    DT.447733  DT.120634875  DT.100794462  DT.100794463  DT.100842434  DT.428414 

    24/150 AceView cDNA sequences (see all 150):

    BM983020 BG574610 BX334341 AW069406 BC014890 BM927991 AI580168 CR610096 
    AJ709827 BQ019920 AI802389 AI339793 CR611662 U69196 AI635365 BU161260 
    CR616026 CA413676 W02279 BU506877 CB215840 CR608999 AI375378 BX097493 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SNAI2 expression in normal human tissues (normalized intensities)      SNAI2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCCATTGTC
    SNAI2 Expression
    About this image


    SNAI2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/43 selected tissues (see all 43) fully expand
     
     Uterus (Reproductive System)    fully expand to see all 6 entries
             uterus, post-menopause ; glandular cells   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             Interstitial Stroma
             kidney ; cells in tubules   
     
     Pancreas (Endocrine System)    fully expand to see all 4 entries
             Immature Beta Progenitor Cells Ventral Pancreatic Bud
             Islets of Langerhans
             pancreas ; exocrine glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   

    See SNAI2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SNAI2

    SOURCE GeneReport for Unigene cluster: Hs.360174

    UniProtKB/Swiss-Prot: SNAI2_HUMAN, O43623
    Tissue specificity: Expressed in most adult human tissues, including spleen, thymus, prostate, testis, ovary,
    small intestine, colon, heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Not detected
    in peripheral blood leukocyte. Expressed in the dermis and in all layers of the epidermis, with high levels of
    expression in the basal layers (at protein level). Expressed in osteoblasts (at protein level). Expressed in
    mesenchymal stem cells (at protein level). Expressed in breast tumor cells (at protein level)

        SABiosciences Expression via Pathway-Focused PCR Arrays including SNAI2: 
              Breast Cancer in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

    Primer
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SNAI2 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snai21 , 5 snail homolog 2 (Drosophila)1, 5 90.05(n)1
    95.52(a)1
      16 (10.07 cM)5
    205831  NM_011415.21  NP_035545.11 
     147058595 
    chicken
    (Gallus gallus)
    Aves SNAI21 snail homolog 2 (Drosophila) 85.7(n)
    93.66(a)
      432368  XM_419196.3  XP_419196.1 
    lizard
    (Anolis carolinensis)
    Reptilia SNAI26
    Uncharacterized protein
    93(a)
    1 ↔ 1
    GL343207.1(1067270-1072448)
    African clawed frog
    (Xenopus laevis)
    Amphibia snai2-A-prov2 snail homolog 2 (Drosophila) 79.52(n)    AF368041.1 
    zebrafish
    (Danio rerio)
    Actinopterygii idibd50032 idibd5003 74.53(n)   58017  CB333804.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta esg1 , 3 peripheral nervous system development
    RNA polymerase more3
    escargot1
    79(a)
    (best of 4)3
    58.81(n)1
    61.06(a)1
      35D23
    349031  NM_057252.31  NP_476600.11 
    worm
    (Caenorhabditis elegans)
    Secernentea K02D7.21 , 3 zinc finger protein3
    Protein K02D7.21
    55(a)3
    56.19(n)1
    57.14(a)1
      IV(311184-312352)3
    1868741  NM_067501.21  NP_499902.21 


    ENSEMBL Gene Tree for SNAI2 (if available)
    TreeFam Gene Tree for SNAI2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SNAI2 gene
    SNAI12  SCRT12  SNAI32  SCRT22  
    18/170 SIMAP similar genes for SNAI2 using alignment to 1 protein entry:     SNAI2_HUMAN(see all similar genes):
    SCRT1    ZNF782    SNAI1    ZNF181    ZNF440    ZNF443
    ZNF554    ZNF560    ZNF721    ZNF846    ZNF426    ZNF525
    ZNF562    ZNF682    Nbla00121    ZFP112    ZNF107    ZNF112

    SNAI2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/121 SNPs in SNAI2 are shown (see all 121)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0098734
    ----see VAR_0098732 D E mis40--------
    rs726405741,2
    C,F--49924150(+) GTGTAA/GTTTAT 1 -- ds50011Minor allele frequency- G:0.00NA 120
    rs1836330901,2
    --49924152(+) GTAATG/TTATAG 1 -- ds50010--------
    rs1469504661,2
    C--49924154(+) AATTTA/GTAGTA 1 -- ds50010--------
    rs27354561,2
    C,H--49924261(-) ATTACC/ATACAC 1 -- ds50014Minor allele frequency- A:0.00NS EA 418
    rs27354551,2
    C,F,H--49924441(-) GTAGTG/ATCACA 1 -- ds500124Minor allele frequency- A:0.04NA NS EA WA CSA 1492
    rs1881837341,2
    --49924446(+) TACTAC/GTATCT 1 -- ds50010--------
    rs1929537201,2
    --49924554(+) ACAAAA/CAATTC 1 -- ut310--------
    rs1846101001,2
    --49924913(+) GCACTA/TATTCC 1 -- ut310--------
    rs1882870571,2
    --49925186(+) ACAACA/CGACAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SNAI2 (49830236 - 49834299 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SNAI2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv890854CNV Gain21882294


    Human Gene Mutation Database (HGMD): SNAI2
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602150   
    OMIM disorders: 608890  172800  
    UniProtKB/Swiss-Prot: SNAI2_HUMAN, O43623
  • Waardenburg syndrome 2D (WS2D) [MIM:608890]: WS2 is a genetically heterogeneous, autosomal dominant
    disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The
    frequency of deafness is higher in WS2 than in WS1. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Piebald trait (PBT) [MIM:172800]: Autosomal dominant genetic developmental abnormality of pigmentation
    characterized by congenital patches of white skin and hair that lack melanocytes. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20/60 diseases for SNAI2 (see all 60):    About MalaCards
    waardenburg syndrome type iid    piebald trait, snai2-related    waardenburg syndrome/ocular albinism, digenic    angiostrongyliasis
    piebaldism    bone osteosarcoma    lung squamous cell carcinoma    spindle cell carcinoma
    waardenburg syndrome type 2    uterine carcinosarcoma    adenoid cystic carcinoma    waardenburg's syndrome
    neural tube defects    pterygium    malignant mesothelioma    pancreatic ductal adenocarcinoma
    synovial sarcoma    adenoiditis    lung adenocarcinoma    craniosynostosis

    2 diseases from the University of Copenhagen DISEASES database for SNAI2:
    Waardenburg's syndrome     Piebaldism

    SNAI2 for disorders           About GeneDecksing

    10/22 Novoseek inferred disease relationships for SNAI2 gene (see all 22)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    waardenburgs syndrome 70.9 2 16717446 (1)
    piebaldism 58.1 9 12955764 (3), 16717446 (1)
    metastasis 56.8 25 19544473 (2), 15790452 (2), 20219417 (2), 15709186 (1) (see all 17)
    tumors 45.9 36 15864483 (3), 15709186 (2), 12855644 (2), 19536615 (2) (see all 18)
    ovarian carcinoma 45.4 3 15742334 (2), 19536615 (1)
    cancer 41.5 33 19448627 (4), 19544473 (2), 16299238 (2), 15314165 (2) (see all 18)
    pancreatic cancer 38.1 2 17699854 (2)
    breast cancer 37.8 10 11912130 (2), 15864483 (2), 19046938 (1), 16232121 (1) (see all 6)
    breast carcinoma 35.1 5 15742334 (2), 16773075 (1), 17000672 (1)
    carcinoma 31.1 11 17000672 (4), 11912130 (1), 17024425 (1), 20043117 (1) (see all 5)

    Genetic Association Database (GAD): SNAI2
    Human Genome Epidemiology (HuGE) Navigator: SNAI2 (1 document)

    Export disorders for SNAI2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SNAI2 gene, integrated from 9 sources (see all 237):
    (articles sorted by number of sources associating them with SNAI2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human SLUG gene organization, expression, and chromosome map location on 8q. (PubMed id 9721220)1, 2, 3 Cohen M.E.... Jabs E.W. (1998)
    2. The SLUG zinc-finger protein represses E-cadherin in breast cancer. (PubMed id 11912130)1, 2, 9 Hajra K.M....Fearon E.R. (2002)
    3. Slug regulates integrin expression and cell proliferation in human epidermal keratinocytes. (PubMed id 16707493)1, 2, 9 Turner F.E....Hotchin N.A. (2006)
    4. SLUG (SNAI2) deletions in patients with Waardenburg disease. (PubMed id 12444107)1, 2, 9 Sanchez-Martin M.... Sanchez-Garcia I. (2002)
    5. Localization of a neural crest transcription factor, Slug, to mouse chromosome 16 and human chromosome 8. (PubMed id 9337409)1, 3, 9 Rhim H....Pavan W.J. (1997)
    6. Functional regulation of Slug/Snail2 is dependent on GSK-3beta- mediated phosphorylation. (PubMed id 22727060)1, 2 Kim J.Y.... Cho M. (2012)
    7. Slug contributes to the regulation of CXCL12 expressi on in human osteoblasts. (PubMed id 21182836)1, 2 Piva R....Lisignoli G. (2011)
    8. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    9. Slug gene expression supports human osteoblast matura tion. (PubMed id 19756381)1, 2 Lambertini E....Piva R. (2009)
    10. Regulation of BRCA2 gene expression by the SLUG repressor protein in human breast cells. (PubMed id 15734731)1, 2 Tripathi M.K....Chaudhuri G. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6591 HGNC: 11094 AceView: SNAI2 Ensembl:ENSG00000019549 euGenes: HUgn6591
    ECgene: SNAI2 Kegg: 6591 H-InvDB: SNAI2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SNAI2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SNAI2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SNAI2 gene:
    Search GeneIP for patents involving SNAI2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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