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

ZEB2 Gene

protein-coding   GIFtS: 60
GCID: GC02M145121

zinc finger E-box binding homeobox 2

(Previous name: zinc finger homeobox 1b )
(Previous symbol: ZFHX1B)
 Explore 35 diseases affiliated with
ZEB2 via our new
 Human Malady Compendium 
Biological research products
for ZEB2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Zinc Finger E-Box Binding Homeobox 21 2     Smad-Interacting Protein 12 3
SIP11 2 3 5     HSPC0822
ZFHX1B1 2 3 5     SMAD Interacting Protein 12
SMADIP12 3 5     Zinc Finger E-Box-Binding Homeobox 22
SIP-11 2     ZFX1B3
Zinc Finger Homeobox 1b1 2     Zinc Finger Homeobox Protein 1b3
KIAA05691 3     

External Ids:    HGNC: 148811   Entrez Gene: 98392   Ensembl: ENSG000001695547   OMIM: 6058025   UniProtKB: O603153   

Export aliases for ZEB2 gene to outside databases

Previous GC identifers: GC02M144863 GC02M145145 GC02M137133


(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 ZEB2:
The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is
located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs.
Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced
transcript variants have been found for this gene.(provided by RefSeq, Jan 2010)

UniProtKB/Swiss-Prot: ZEB2_HUMAN, O60315
Function: Transcriptional inhibitor that binds to DNA sequence 5'-CACCT-3' in different promoters. Represses
transcription of E-cadherin

Gene Wiki entry for ZEB2


(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_000002.11  NC_018913.1  NT_022135.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ZEB2 gene promoter:
         E2F-3a   E2F-4   E2F-5   AP-1   ATF-2   E2F-2   RelA   YY1   E2F-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZEB2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ZEB2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZEB2


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

Entrez Gene cytogenetic band: 2q22.3   Ensembl cytogenetic band:  2q22.3   HGNC cytogenetic band: 2q22.3

ZEB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZEB2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M145121:  view genomic region     (about GC identifiers)

Start:
145,141,942 bp from pter      End:
145,282,147 bp from pter
Size:
140,206 bases      Orientation:
minus strand

(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: ZEB2_HUMAN, O60315 (See protein sequence)
Recommended Name: Zinc finger E-box-binding homeobox 2  
Size: 1214 amino acids; 136447 Da
Subunit: Binds activated SMAD1, activated SMAD2 and activated SMAD3; binding with SMAD4 is not detected (By
similarity). Interacts with CBX4 and CTBP1
Subcellular location: Nucleus
Sequence caution: Sequence=BAA25495.2; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for ZEB2:
2DA7 (3D)    
Secondary accessions: A0JP09 B7Z2P2 F5H814 Q9UED1
Alternative splicing: 2 isoforms:  O60315-1   O60315-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ZEB2: NX_O60315

Post-translational modifications:

  • Sumoylation on Lys-391 and Lys-866 is promoted by the E3 SUMO-protein ligase CBX4, and impairs interaction with CTBP1
  • and transcription repression activity1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O60315

  • ZEB2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001165124.1  NP_055610.1  

    ENSEMBL proteins: 
     ENSP00000302501   ENSP00000394777   ENSP00000386854   ENSP00000443792   ENSP00000454157  
     ENSP00000395496   ENSP00000376601   ENSP00000387256   ENSP00000400993   ENSP00000399451  

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    Uscn Proteins for ZEB2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--


    ZEB2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ZEB2


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

    ZEB2 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry O60315

    ProtoNet protein and cluster: O60315

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

    UniProtKB/Swiss-Prot: ZEB2_HUMAN, O60315
    Similarity: Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family
    Similarity: Contains 7 C2H2-type zinc fingers
    Similarity: Contains 1 homeobox DNA-binding domain


    (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: ZEB2_HUMAN, O60315
    Function: Transcriptional inhibitor that binds to DNA sequence 5'-CACCT-3' in different promoters. Represses
    transcription of E-cadherin

    miRNA
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    miRTarBase miRNAs that target ZEB2:
    hsa-mir-200a (MIRT001035), hsa-mir-429 (MIRT000048), hsa-mir-200c (MIRT001036), hsa-mir-141 (MIRT000316), hsa-mir-205 (MIRT003666), hsa-mir-200b (MIRT000723)

    OriGene 3'-UTR Clone: ZEB2
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    8/173 QIAGEN miScript miRNA Assays for microRNAs that regulate ZEB2 (see all 173):
    hsa-miR-411* hsa-miR-26a-2* hsa-miR-199a-3p hsa-miR-605 hsa-miR-1245 hsa-miR-342-3p hsa-miR-409-5p hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidZEB2 3' UTR sequence
    Inhib. RNA
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    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:0003676nucleic acid binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0008270zinc ion binding IEA--
    GO:0019208phosphatase regulator activity NAS11477103
    GO:0043565sequence-specific DNA binding IEA--


    ZEB2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Zeb2tm1.2Yhi for ZEB2
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Zeb2):
     cellular  craniofacial  embryogenesis  growth/size  mortality/aging 
     nervous system  no phenotypic analysis  reproductive system  vision/eye 

    ZEB2 for phenotypes           About GeneDecksing


    (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  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1TGF Beta Signaling Pathway
    TGF Beta Signaling Pathway1.00
    2TGF-beta Receptor Signaling Pathway
    TGF-beta Receptor Signaling Pathway1.00


    2 BioSystems Pathways for ZEB2 
        TGF Beta Signaling Pathway
    TGF-beta Receptor Signaling Pathway


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ZEB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/26 Interacting proteins for ZEB2 (O603152, 3 ENSP000003025014) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD2Q157962, 3, ENSP000002621604MINT-60926 I2D: score=5 STRING: ENSP00000262160
    SMAD3P840222, 3, ENSP000003329734MINT-61707 I2D: score=5 STRING: ENSP00000332973
    COPS6Q7L5N12, 3MINT-63168 I2D: score=5 
    SMAD9O151982, 3, ENSP000003691544MINT-61938 MINT-62073 I2D: score=4 STRING: ENSP00000369154
    SMAD1Q157972, 3, ENSP000003057694MINT-61992 I2D: score=6 STRING: ENSP00000305769
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001755neural crest cell migration IEA--
    GO:0001756somitogenesis IEA--
    GO:0001843neural tube closure IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0007399nervous system development NAS11279515


    ZEB2 for ontologies           About GeneDecksing



    (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

    ZEB2 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ZEB2
    1 Novoseek chemical compound relationship for ZEB2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 50.4 15 10487759 (3), 15908750 (2), 13679026 (2), 15065106 (1) (see all 10)

    Search CenterWatch for drugs/clinical trials and news about ZEB2 

    (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,
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    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 ZEB2 gene (2 alternative transcripts): 
    NM_001171653.1  NM_014795.3  

    Unigene Cluster for ZEB2:

    Zinc finger E-box binding homeobox 2
    Hs.34871  [show with all ESTs]
    Unigene Representative Sequence: NM_014795
    18/29 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):
    ENST00000303660(uc002tvu.3 uc010zbm.2 uc002tvv.3 uc010fnp.3)
    ENST00000419938 ENST00000409487(uc010fnq.1) ENST00000539609 ENST00000558170
    ENST00000427902 ENST00000392861 ENST00000497268 ENST00000440875 ENST00000409211
    ENST00000431672 ENST00000472146(uc002tvw.3) ENST00000465308 ENST00000461784
    ENST00000560384 ENST00000476394 ENST00000434448 ENST00000479735

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    8/173 QIAGEN miScript miRNA Assays for microRNAs that regulate ZEB2 (see all 173):
    hsa-miR-411* hsa-miR-26a-2* hsa-miR-199a-3p hsa-miR-605 hsa-miR-1245 hsa-miR-342-3p hsa-miR-409-5p hsa-miR-298
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    Inhib. RNA
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    Additional cDNA sequence: 

    AB011141.1 AB015341.1 AB056507.1 AB193095.1 AB193096.1 AF085983.1 AF161345.1 AK098835.1 
    AK124806.1 AK294928.1 AK308124.1 AK308445.1 BC025696.1 BC025730.1 BC035706.1 BC037975.1 
    BC070275.1 BC127101.1 BC127102.1 NR_033258.1 

    21 DOTS entries:

    DT.114739  DT.99997721  DT.113306  DT.91936659  DT.95142377  DT.302826  DT.100685839  DT.99930943 
    DT.100736461  DT.75178225  DT.100722917  DT.120955701  DT.120955773  DT.91743211  DT.120955816  DT.91892178 
    DT.95121878  DT.95267834  DT.97776544  DT.99960460  DT.95329650 

    24/173 AceView cDNA sequences (see all 173):

    BM549497 AB011141 CD626159 BU623277 CK724871 BM671647 AL118674 BM686636 
    AI094145 AB056507 BC037975 BU161794 AI754598 AW237506 BM475827 CR597591 
    AA358105 AK124806 AB015341 CR622178 D31109 BQ956206 AI468974 AA490605 

    GeneLoc Exon Structure

    5/16 Alternative Splicing Database (ASD) splice patterns (SP) for ZEB2 (see all 16)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c · 9d · 9e ^ 10a · 10b · 10c ^ 11a · 11b ·
    SP1:                    -     -     -     -     -     -                 -     -     -     -     -                       -     -                       -         
    SP2:                                                  -                 -     -     -     -     -                       -     -                       -         
    SP3:                    -     -     -     -     -     -                 -     -     -     -                                                                     
    SP4:                                -     -     -     -                 -     -     -     -     -                       -     -                                 
    SP5:                                -     -     -     -                 -     -     -     -                                                                     

    ExUns: 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16
    SP1:                                            -         
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for ZEB2

    (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

    ZEB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTCGAATAAA

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

    About this image

    ZEB2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainCerebral CortexBrain
    KidneyMetanephrosKidney
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ZEB2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZEB2

    SOURCE GeneReport for Unigene cluster: Hs.34871
        SABiosciences Expression via Pathway-Focused PCR Arrays including ZEB2: 
              Stem Cell Signaling in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZEB2

    (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 ZEB2 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 ZEB21 zinc finger E-box binding homeobox 2 89.27(n)
    94.31(a)
      424306  XM_422151.3  XP_422151.3 
    lizard
    (Anolis carolinensis)
    Reptilia B9TVX6_ANOCA6
    Zinc finger homeobox protein Fragment
    90(a)
    1 ↔ 1
    1(102413138-102414019)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.9582 Xenopus laevis SIP1 mRNA for smad interaction protein more 83.83(n)    AB038353.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zeb2b1 zinc finger E-box binding homeobox 2b 70.42(n)
    73.21(a)
      564934  XM_001920932.3  XP_001920967.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta zfh16
    Zn finger homeodomain 1
    23(a)
    1 → many
    3R(26591648-26614205)
    worm
    (Caenorhabditis elegans)
    Secernentea zag-16
    Zinc finger plus homeodomain, Axon Guidance family...
    31(a)
    1 → many
    IV(3855837-3861118)


    ENSEMBL Gene Tree for ZEB2 (if available)
    TreeFam Gene Tree for ZEB2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ZEB2 gene
    ZEB12  
    18/36 SIMAP similar genes for ZEB2 using alignment to 8 protein entries:     ZEB2_HUMAN (see all proteins) (see all similar genes):
    ZFHX1B    HZF40    kr-znf3    ZFS-5    ZEB1    DKFZp686M04222
    ZNF468    ZNF22    smap-7    A-328A3.4    ZNF323    zf30
    ZNF72    ZNF78L1    ZNF55    ZNF    ZFS-2    ZNF663

    ZEB2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ZEB2
    PGOHUM00000245474


    (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

    10/1853 NCBI SNPs in ZEB2 are shown (see all 1853    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs797260931,2
    F,--137132860(+) CAAGAC/TCAAAT 2 -- ds50011Minor allele frequency- T:0.02WA 118
    rs767293341,2
    F,--137134752(+) ATTGCA/CCAGAT 2 -- ut311Minor allele frequency- C:0.02WA 118
    rs729921381,2
    C,--137134953(+) GTGGAG/CGGGAA 2 -- ut311Minor allele frequency- C:0.50WA 2
    rs621692011,2
    C,--137135055(+) CAATCG/ATGTCC 2 -- ut312Minor allele frequency- A:0.10NA 122
    rs739649891,2
    C,--137135570(+) GGCTGC/TGGATA 2 -- ut311Minor allele frequency- T:0.50WA 2
    rs1120751231,2
    --137136797(+) GTCATC/TATGTA 2 -- ut311Minor allele frequency- T:0.50CSA 2
    rs745839081,2
    F,--137137035(+) TAATAG/CCTGTC 2 -- ut311Minor allele frequency- C:0.03WA 118
    rs621692021,2
    --137137482(+) ATTCAG/ATAATA 2 -- ut311Minor allele frequency- A:0.50NA 2
    rs560157191,2
    C--137137615(+) TTTCAC/TAAGAT 2 -- ut310--------
    rs557117241,2
    C--137138295(+) AGAAAA/GAAAAA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for ZEB2 (145141942 - 145282147 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ZEB2
         1 CNV: 6003
    Human Gene Mutation Database (HGMD): ZEB2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ZEB2
    DNA2.0 Custom Variant and Variant Library Synthesis for ZEB2

    (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

    ZEB2 for disorders           About GeneDecksing

    OMIM gene information: 605802   
    OMIM disorders: 235730  
    UniProtKB/Swiss-Prot: ZEB2_HUMAN, O60315
  • Defects in ZEB2 are the cause of Mowat-Wilson syndrome (MWIS) [MIM:235730]; also known as Hirschsprung
  • disease-mental retardation syndrome. A complex developmental disorder characterized by mental retardation, delayed
    motor development, epilepsy, microcephaly and a wide spectrum of clinically heterogeneous features suggestive of
    neurocristopathies at the cephalic, cardiac, and vagal levels. Some patients manifest Hirschsprung disease. Affected
    patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad
    eyebrows, prominent columella, pointed chin and uplifted, notched ear lobes

    20/35 diseases for ZEB2 (see all 35):    About MalaCards
    mowat-wilson syndrome    hirschsprung's disease    patent ductus arteriosus    restless legs syndrome
    corpus callosum    mental retardation syndrome    spindle cell carcinoma    oral squamous cell carcinoma
    hypospadias    intellectual disability    squamous cell carcinoma    malignant mesothelioma
    microcephaly    coloboma    carcinoma    hepatocellular carcinoma
    ovarian carcinoma    embryonal carcinoma    myopia    gastric cancer

    4 diseases from the University of Copenhagen DISEASES database for ZEB2:
    Hirschsprung's disease     Microcephaly     Intellectual disability     Hypospadias

    10/20 Novoseek disease relationships for ZEB2 gene (see all 20)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hirschsprung disease 89.1 29 15384097 (3), 11891681 (3), 18247312 (1), 11279515 (1) (see all 12)
    microcephaly 77.6 1 11595972 (1)
    anomaly congenital multiple 71.5 5 18259761 (1), 16532472 (1), 11891681 (1)
    genitourinary anomaly 69.6 1 15908750 (1)
    mental retardation 68.4 11 11595972 (2), 18259761 (1), 12522797 (1), 11891681 (1) (see all 7)
    severe mental retardation 66.6 2 16532472 (1), 15006694 (1)
    hypospadias 52.9 1 11595972 (1)
    heart defects congenital 47.7 2 12175509 (1)
    congenital malformation 46 2 20206619 (1), 18445050 (1)
    epilepsy 41 1 17478475 (1)

    GeneTests: ZEB2
    Mowat-Wilson Syndrome

    Human Genome Epidemiology (HuGE) Navigator: ZEB2 (5 documents)

    Export disorders for ZEB2 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 ZEB2 gene, integrated from 9 sources (see all 143):
    (articles sorted by number of sources associating them with ZEB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Pc2-mediated sumoylation of Smad-interacting protein 1 attenuates transcriptional repression of E-cadherin. (PubMed id 16061479)1, 2, 9 Long J.... Park M. (2005)
    2. Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21. (PubMed id 15384097)1, 2, 9 Gregory-Evans C.Y....Gregory-Evans K. (2004)
    3. Mutations in SIP1, encoding Smad interacting protein 1, cause a form of Hirschsprung disease. (PubMed id 11279515)1, 2, 9 Wakamatsu N....Nagaya M. (2001)
    4. A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. (PubMed id 16688751)1, 2, 9 Heinritz W.... Schuster V. (2006)
    5. Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. (PubMed id 11448942)1, 2, 9 Cacheux V.... Goossens M. (2001)
    6. 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)
    7. Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B. (PubMed id 12451214)1, 2 Yoneda M.... Wakamatsu N. (2002)
    8. Selection system for genes encoding nuclear-targeted proteins. (PubMed id 9853615)1, 2 Ueki N.... Muramatsu M.-A. (1998)
    9. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2 Nagase T....Ohara O. (1998)
    10. Expression of SIP1 in oral squamous cell carcinomas: implications for E-cadherin expression and tumor progression. (PubMed id 16273209)1, 9 Maeda G....Imai K. (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: 9839 HGNC: 14881 AceView: ZFHX1B Ensembl:ENSG00000169554 euGenes: HUgn9839
    ECgene: ZEB2 H-InvDB: ZEB2

    (According to HUGE)
    About This Section
    HUGE: KIAA0569

    (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 ZEB2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ZEB2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ZEB2 gene:
    Search GeneIP for patents involving ZEB2

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



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     Regulatory tfbs in ZEB2 promoter
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