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

ZEB2 Gene

protein-coding   GIFtS: 63
GCID: GC02M145121

Zinc Finger E-Box Binding Homeobox 2

(Previous name: zinc finger homeobox 1b)
(Previous symbol: ZFHX1B)
  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
Zinc Finger E-Box Binding Homeobox 21 2     HSPC0822
ZFHX1B1 2 3 5     SIP-12
SIP12 3 5     Zinc Finger E-Box-Binding Homeobox 22
SMADIP12 3 5     KIAA05693
Zinc Finger Homeobox 1b1 2     ZFX1B3
SMAD Interacting Protein 11 2     Zinc Finger Homeobox Protein 1b3
Smad-Interacting Protein 12 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 Gene:
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)

GeneCards Summary for ZEB2 Gene: 
ZEB2 (zinc finger E-box binding homeobox 2) is a protein-coding gene. Diseases associated with ZEB2 include mowat-wilson syndrome, and mowat-wilson syndrome due to monosomy 2q22. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and SMAD binding. An important paralog of this gene is ZNF22.

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 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_000002.11  NC_018913.2  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:
145,141,648 bp from pter      End:
145,282,147 bp from pter
Size:
140,500 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: 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

Explore proteomics data for ZEB2 at MOPED 

Post-translational modifications:

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

  • ZEB2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ZEB2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001165124.1  NP_055610.1  

    ENSEMBL proteins: 
     ENSP00000454157   ENSP00000386854   ENSP00000394777   ENSP00000302501   ENSP00000443792  
     ENSP00000395496   ENSP00000376601   ENSP00000475553   ENSP00000387256   ENSP00000475267  
     ENSP00000400993   ENSP00000399451   ENSP00000475329   ENSP00000475502   ENSP00000475400  

    Human Recombinant Protein Products for ZEB2: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

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

    ZEB2 for ontologies           About GeneDecksing



    ZEB2 Antibody Products: 
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    Assay Products for ZEB2: 
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    Browse CLIAs at Cloud-Clone Corp.


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

    5 InterPro protein domains:
     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 domain: 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


    ZEB2 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: ZEB2_HUMAN, O60315
    Function: Transcriptional inhibitor that binds to DNA sequence 5'-CACCT-3' in different promoters. Represses
    transcription of E-cadherin

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0008270zinc ion binding ----
    GO:0019208phosphatase regulator activity NAS11477103
         
    ZEB2 for ontologies           About GeneDecksing


    Phenotypes:
         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

    Animal Models:
         MGI mouse knock-out Zeb2tm1.2Yhi for ZEB2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ZEB2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ZEB2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ZEB2 
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    miRNA
    Products:
        
    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)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ZEB2
    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
    Products:
        
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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of ZEB2 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZEB2


    (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 ZEB2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1TGF Beta Signaling Pathway
    TGF Beta Signaling Pathway
    2MicroRNAs in cancer
    MicroRNAs in cancer
    3TGF-beta Receptor Signaling Pathway
    TGF-beta Receptor Signaling Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    1         Kegg Pathway  (Kegg details for ZEB2):
        MicroRNAs in cancer


    ZEB2 for pathways           About GeneDecksing

    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): 5/12 biological process terms (GO ID links to tree view) (see all 12):    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:0006355regulation of transcription, DNA-dependent ----

    ZEB2 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

    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 inferred 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 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 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
    18/28 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 28):
    ENST00000558170 ENST00000409487(uc010fnq.1) ENST00000419938 ENST00000303660(uc002tvu.3 uc010zbm.2 uc002tvv.3 uc010fnp.3)
    ENST00000539609 ENST00000427902 ENST00000392861 ENST00000497268 ENST00000440875
    ENST00000409211 ENST00000431672 ENST00000472146(uc002tvw.3) ENST00000465308
    ENST00000461784 ENST00000560384 ENST00000476394 ENST00000434448 ENST00000479735

    miRNA
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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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    Clone
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ZEB2

    Additional mRNA 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):

    AI922846 BC060819 BC037975 D31109 AI754598 BU161794 AI094145 BU688017 
    AB056507 AW020915 AA358106 AA490605 BQ956206 AI468974 CA447476 NM_014795 
    BM686636 AI755114 BF000565 AL118674 CK724871 BC025696 BC025730 AK124806 

    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)      ZEB2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCGAATAAA
    ZEB2 Expression
    About this image


    ZEB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/32 selected tissues (see all 32) fully expand
     
     Brain (Nervous System)    fully expand to see all 20 entries
             Myelinating Oligodendrocyte Cells Spinal Cord White Matter
             Thalamus
             brain/forebrain/telencephalon   
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Telencephalon
     
     Spinal Cord (Nervous System)    fully expand to see all 3 entries
             Myelinating Oligodendrocyte Cells Spinal Cord White Matter
             spinal/ganglion/dorsal root ganglion   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             mouse/organ system/cardiovascular system   
     
     Spleen (Hematopoietic System)    fully expand to see all 2 entries
             Conventional Dendritic Cells II Spleen
             spleen ; cells in red pulp   

    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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    (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 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zeb21 , 5 zinc finger E-box binding homeobox 21, 5 93.05(n)1
    96.71(a)1
      2 (27.31 cM)5
    241361  NM_015753.31  NP_056568.21 
     449837325 
    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 ZEB26
    Zinc finger homeobox protein
    92(a)
    1 ↔ 1
    1(102388596-102439102)
    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
    19(a)
    1 → many
    3R(26591648-26614205)
    worm
    (Caenorhabditis elegans)
    Secernentea zag-16
    Zinc finger E-box-binding homebox protein zag-1
    28(a)
    1 → many
    IV(3855843-3861124)


    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
    ZNF222  ZEB12  
    18/33 SIMAP similar genes for ZEB2 using alignment to 8 protein entries:     ZEB2_HUMAN (see all proteins) (see all similar genes):
    ZFHX1B    HZF40    kr-znf3    ZEB1    ZFS-5    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, 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

    10/2206 SNPs in ZEB2 are shown (see all 2206)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0355634
    A colorectal cancer sample4--see VAR_0355632 D N mis40--------
    VAR_0270184
    Mowat-Wilson syndrome (MWIS)4--see VAR_0270182 Q R mis40--------
    VAR_0270174
    Mowat-Wilson syndrome (MWIS)4--see VAR_0270172 R G mis40--------
    rs1998693031,2
    C--137222752(+) AGAAAA/GAAAAA 2 -- int10--------
    rs671107551,2
    C--137229588(+) TTTTT-/GGGGGG 2 -- int10--------
    rs355161641,2
    C--137232662(+) TTTTT-/C/TCAACG 2 -- int11NA 2
    rs1813978511,2
    --137247940(+) ATAATA/GTATAT 2 -- int10--------
    rs1841149521,2
    --137247943(+) ATATAC/TATTAA 2 -- int10--------
    rs1892393081,2
    --137247951(+) TAATAA/TTATAT 2 -- int10--------
    rs2013901011,2
    C--137247970(+) ATATAC/TATTAA 2 -- int10--------

    HapMap Linkage Disequilibrium report for ZEB2 (145141648 - 145282147 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ZEB2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1694349CNV Deletion17803354
    nsv875261CNV Loss21882294
    nsv215339CNV Loss16902084


    Human Gene Mutation Database (HGMD): ZEB2
    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: 605802   
    OMIM disorders: 235730  
    UniProtKB/Swiss-Prot: ZEB2_HUMAN, O60315
  • Mowat-Wilson syndrome (MWIS) [MIM:235730]: 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. 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. Some patients manifest Hirschsprung disease.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/36 diseases for ZEB2 (see all 36):    About MalaCards
    mowat-wilson syndrome    mowat-wilson syndrome due to monosomy 2q22    mowat-wilson syndrome due to a point mutation    hirschsprung's disease
    spindle cell carcinoma    hypospadias    restless legs syndrome    microcephaly
    patent ductus arteriosus    coloboma    myopia    malignant mesothelioma
    migraine    mental retardation    noma    intellectual disability
    adenoiditis    gastric cancer    leiomyoma    oral squamous cell carcinoma

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

    ZEB2 for disorders           About GeneDecksing

    10/20 Novoseek inferred 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
    GeneReviews: ZEB2
    Genetic Association Database (GAD): ZEB2
    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 160):
    (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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    7. Pathway-based approaches to imaging genetics associat ion studies: Wnt signaling, GSK3beta substrates and major depression. (PubMed id 20219685)1, 4 Inkster B....Matthews P.M. (2010)
    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. Determination of genetic predisposition to patent ductus arteriosus in preterm infants. (PubMed id 19336370)1, 4 Dagle J.M....Murray J.C. (2009)
    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)

    (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 Kegg: 9839 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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