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

SNAI2 Gene

protein-coding   GIFtS: 65
GCID: GC08M049830

snail homolog 2 (Drosophila)

(Previous names: slug homolog, zinc finger protein (chicken) )
(Previous symbol: SLUG)
 Explore 57 diseases affiliated with
SNAI2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SNAI2    

Aliases
for SNAI2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Snail Homolog 2 (Drosophila)1 2     WS2D2 5
SLUG1 2 3 5     Slug Homolog, Zinc Finger Protein (Chicken)1
SLUGH11 2     Slug (Chicken Homolog), Zinc Finger Protein2
SNAIL21 2     Zinc Finger Protein SNAI22
Neural Crest Transcription Factor Slug2 3     SLUGH3
Protein Snail Homolog 22 3     

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


Summaries
for SNAI2 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  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 plasmid: SNAI2 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

Proteins
for SNAI2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • GSK3B-mediated phosphorylation results in cytoplasmic localization and degradation1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O43623

    • SNAI2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003059.1  
    ENSEMBL proteins: 
     ENSP00000380034   ENSP00000020945  

    Human Recombinant Protein Products: 
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    Uscn 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: 
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    Uscn ELISAs and CLIAs for SNAI2

    Protein Domains /
    Families
    for SNAI2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SNAI2 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: 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


    Function
    for SNAI2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    hsa-mir-204 (MIRT003273), hsa-mir-124 (MIRT002716)

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    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 plasmid: SNAI2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNAI2 

    Cell Line
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    LifeMap BioReagents: cell lines associated with SNAI2: PureStem 7PEND24, NCr-fac & Meso-prx Progenitor,
    PureStem SK11, NCr-fac & Meso-prx Progenitor

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNAI2

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    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 IDA18663143
    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 IEA--


    SNAI2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SNAI2:
     Decreased viability with pacli 

    Animal Models:
         Mouse knock-outs for SNAI2: Snai2tm1Look Snai2tm2Grid
         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


    Pathways & Interactions
    for SNAI2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Wnt / Hedgehog / Notch
    		Wnt / Hedgehog / Notch1.00
    2Neural Crest Differentiation
    		Neural Crest Differentiation1.00
    3Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    		Regulation of Wnt-mediated beta catenin signaling and target gene transcription1.00
    4Direct p53 effectors
    		Direct p53 effectors1.00
    5Adherens junction
    		Adherens junction1.00

    Pathway sources
    See GeneCards unified pathways
    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
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    Direct p53 effectors
    Signaling events mediated by Stem cell factor receptor (c-Kit)


    1         Kegg Pathway  (Kegg details for SNAI2):
        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): 5/41 biological process terms (GO ID links to tree view) (see all 41):    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



    Drugs & Compounds
    for SNAI2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for SNAI2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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)

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    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 plasmid: SNAI2 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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):

    BQ019920 BU146292 BM927991 AI814370 NM_003068 AI802389 AI375378 CR608999 
    CA432427 BX357616 CR605323 AJ709827 BX359236 AI380262 BX097493 AI470820 
    CR616026 BI258890 U69196 BU682810 CA413676 BM983020 AI635365 AW069406 

    GeneLoc Exon Structure


    Expression
    for SNAI2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTCCATTGTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SNAI2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    PancreasDorsal Pancreatic BudImmature Beta Progenitor CellsPancreas
    PancreasVentral Pancreatic BudImmature Beta Progenitor CellsPancreas
    Gut TubeHindgutHindgut Endoderm CellsEndoderm
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    KidneyInterstitial StromaInterstitial Stroma CellsKidney
    LungTracheaBasal CellsLung
    Gut TubeHindgutGut Tube
    Gut TubeMidgutGut Tube
    KidneyInterstitial StromaKidney
    LiverLiver BudLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 8 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    Sclerotome cells (Primary Cell)Bone, Cartilage, Somite
    Mesoderm-like cells (Derivation of cardio...)
    DKK1-induced cells (Derivation of cardio...)
    Podocalyxin+, CD24+, GCTM2- (Derivation and sorti...)
    Mesendoderm (Derivation and sorti...)
    Podocalyxin+, CD24+, GCTM2 (low) (Derivation and sorti...)

    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: 
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              Cancer PathwayFinder in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

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    In Situ
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    Orthologs
    for SNAI2 gene

    (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 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 93(a)
    		 1 ↔ 1
    		 GL343207.1(1067873-1071423)
    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
    for SNAI2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SNAI2 gene
    SCRT12  SNAI12  SCRT22  SNAI32  
    18/172 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    ZNF135

    SNAI2 for paralogs           About GeneDecksing



    Genomic Variants
    for SNAI2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/91 NCBI SNPs in SNAI2 are shown (see all 91)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs726405741,2
    		C,--45293907(+) GTGTAA/GTTTAT 1 -- ds50011Minor allele frequency- G:0.00NA 120
    rs27354561,2
    		C,H--45294018(-) ATTACC/ATACAC 1 -- ds50014Minor allele frequency- A:0.00NS EA 418
    rs132809931,2
    		C,F,H--45295528(+) AATGGG/ATCTGC 2 /T /I mis1 ese35Minor allele frequency- A:0.00NS EA 582
    rs776875171,2
    		F,--45295907(+) ATGTTG/AAGCAC 1 -- int11Minor allele frequency- A:0.02EA 120
    rs746588791,2
    		C,F,--45296305(+) TCTACA/GTGCTG 1 -- int11Minor allele frequency- G:0.10WA 118
    rs115443601,2
    		C--45297045(-) TTTCCC/ACGTAT 2 /T /P mis11Minor allele frequency- A:0.00NA 2
    rs117748941,2
    		C,F,H,--45297333(+) CCTTCG/ACCGTC 1 -- int18Minor allele frequency- A:0.04NS NA 1076
    rs27354541,2
    		C--45297466(-) TTTAGA/GAGGCG 1 -- int12Minor allele frequency- G:0.00NA 4
    rs767446301,2
    		C,--45297558(+) ACACAG/AGCTTT 1 -- int11Minor allele frequency- A:0.01WA 118
    rs117766191,2
    		C,H--45298642(+) ACTCAG/TGGCTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SNAI2 (49830236 - 49834299 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SNAI2: --
    Human Gene Mutation Database (HGMD): SNAI2

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    Disorders / Diseases
    for SNAI2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SNAI2 for disorders           About GeneDecksing

    OMIM gene information: 602150   
    OMIM disorders: 608890  172800  
    UniProtKB/Swiss-Prot: SNAI2_HUMAN, O43623
  • Defects in SNAI2 are the cause of Waardenburg syndrome type 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
  • Defects in SNAI2 are a cause of Piebald trait (PBT) [MIM:172800]; also known as piebaldism. PBT is an
    • autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin
    and hair that lack melanocytes

    20/57 diseases for SNAI2 (see all 57):    About MalaCards
    neural tube defect    waardenburg syndrome type 2    breast carcinoma    waardenburg syndrome, type 2d
    waardenburg's syndrome    carcinoma    piebaldism    uterine carcinosarcoma
    squamous cell carcinoma    malignant mesothelioma    spindle cell carcinoma    adenoid cystic carcinoma
    angiostrongyliasis    esophageal squamous cell carcinoma    pancreatic ductal adenocarcinoma    lung squamous cell carcinoma
    bone osteosarcoma    synovial sarcoma    chronic myeloid leukemia    intrahepatic cholangiocarcinoma

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

    10/22 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: SNAI2 (1 document)

    Export disorders for SNAI2 gene to outside databases

    Publications
    for SNAI2 gene

    (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 212):
    (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. Slug gene expression supports human osteoblast matura tion. (PubMed id 19756381)1, 2 Lambertini E....Piva R. (2009)
    9. 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)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    External Searches for SNAI2 gene

    (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)

    Genome Databases showing SNAI2 gene

    (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

    Other Databases showing SNAI2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SNAI2 gene

    (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

    Intellectual Property
    for SNAI2 gene

    (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



    Products
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    About This Section

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