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ZEB2 Gene

protein-coding   GIFtS: 55

GC02M137133
zinc finger E-box binding homeobox 2
(Previous name: zinc finger homeobox 1b )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: ZFHX1B)
Products    

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

Aliases & Descriptions
zinc finger E-box binding homeobox 21 2     Smad-interacting protein 12 3
KIAA05691 2 3     zinc finger E-box-binding homeobox 22
SMADIP12 3 5     HSPC0822
ZFHX1B2 3 5     FLJ428162
SIP12 3 5     OTTHUMP000002045412
zinc finger homeobox 1b1 2     OTTHUMP000002045402
SIP-11 2     ZFX1B3
Zinc finger homeobox protein 1b2 3     

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

Export aliases for ZEB2 gene to outside databases

Previous GC identifers: GC02M144863 GC02M145145


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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.

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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ZEB2
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for ZEB2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M137133:  view genomic region     (about GC identifiers)

Start:
137,133,063 bp from pter
End:
137,270,287 bp from pter
Size:
137,225 bases
Orientation:
minus strand

1 alternative location:
Chr2- 145,145,568-145,282,147     
RefSeq DNA sequence:
NC_000002.11  NT_022135.16  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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;
PDB structures from and Proteopedia :
2DA7 (3D)    
Secondary accessions: A0JP09 Q9UED1

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 phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000376600 ENSP00000302501 ENSP00000394777 ENSP00000399451 ENSP00000376601 ENSP00000390863 
    ENSP00000395496 ENSP00000401575 ENSP00000405303 ENSP00000412063 ENSP00000387256 ENSP00000386854 
    ENSP00000395945 ENSP00000400993 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    GenScript Custom Purified and Recombinant Proteins Services for ZEB2 
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622 intracellular IEA--
    GO:0005634 nucleus IDA18029348
    GO:0005730 nucleolus IDA18029348
    GO:0005737 cytoplasm IDA18029348
    About this table

    ZEB2 for ontologies           About GeneDecksing



    Antibodies for ZEB2: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for ZEB2
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for ZEB2 
    Novus Biologicals Antibodies for ZEB2
    Browse antibodies at Epitomics

    Assays for ZEB2: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ZEB2 
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn 


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

    ZEB2 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR012287 Homeodomain-rel
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR001356 Homeobox
     IPR009057 Homeodomain-like

    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 UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for ZEB2
    Sigma-Aldrich shRNA for ZEB2
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): ZEB2
    OriGene shRNA RFP (see all 3): ZEB2
    OriGene basic RS shRNA (see all 3): ZEB2
    OriGene siRNA (see all 3): ZEB2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ZEB2 
    miRNA:Sigma-Aldrich microRNA Mimics for ZEB2
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ZEB2 
    8/38 SABiosciences Assays for microRNAs that regulate ZEB2 (see all 38):
    hsa-miR-429 hsa-miR-548k hsa-miR-139-5p hsa-miR-200a hsa-miR-605 hsa-miR-301a hsa-miR-218 hsa-miR-192

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): ZEB2
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): ZEB2
    OriGene untagged cDNA clones in CMV expression vector: ZEB2
    OriGene 3'-UTR clone: ZEB2 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for ZEB2 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for ZEB2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700 sequence-specific DNA binding transcription factor activity IEA--
    GO:0008270 zinc ion binding IEA--
    GO:0019208 phosphatase regulator activity NAS11477103
    GO:0043565 sequence-specific DNA binding IEA--
    GO:0046332 SMAD binding NAS--
    About this table

    ZEB2 for ontologies           About GeneDecksing

    Animal Models: 8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Zeb2):

    craniofacialembryogenesisgrowth/sizelethality-prenatal/perinatalnervous system
    no phenotypic analysisreproductive systemvision/eye

    ZEB2 for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section

        SABiosciences Pathway-Focused PCR Arrays including ZEB2: PAHS-047A PAHS-090A 

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ZEB2

    5 Interacting proteins for ZEB2 (ENSP000003025013 O603152) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD2Q157962STRING: ENSP00000262160 MINT-60926
    SMAD3P840222STRING: ENSP00000332973 MINT-61707
    SMAD9O151982MINT-61938 MINT-62073
    COPS6Q7L5N12MINT-63168
    SMAD1Q157972MINT-61992
    About this table

    5/13 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 13):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001755 neural crest cell migration IEA--
    GO:0001756 somitogenesis IEA--
    GO:0001843 neural tube closure IEA--
    GO:0006355 regulation of transcription, DNA-dependent IEA--
    GO:0007399 nervous system development NAS11279515
    About this table

    ZEB2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    ZEB2 for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ZEB2
    1 Novoseek chemical compound relationship for ZEB2 gene
    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)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for ZEB2
    Sigma-Aldrich shRNA for ZEB2
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): ZEB2
    OriGene shRNA RFP (see all 3): ZEB2
    OriGene basic RS shRNA (see all 3): ZEB2
    OriGene siRNA (see all 3): ZEB2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ZEB2 
    miRNA: Sigma-Aldrich microRNA Mimics for ZEB2
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ZEB2 
    8/38 SABiosciences Assays for microRNAs that regulate ZEB2 (see all 38):
    hsa-miR-429 hsa-miR-548k hsa-miR-139-5p hsa-miR-200a hsa-miR-605 hsa-miR-301a hsa-miR-218 hsa-miR-192
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): ZEB2
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): ZEB2
    OriGene untagged cDNA clones in CMV expression vector: ZEB2
    OriGene 3'-UTR Clone: ZEB2 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for ZEB2 
    Primers: OriGene genome-wide validated SYBR primer pairs: ZEB2
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for ZEB2: PPH09021A

    REFSEQ mRNAs for ZEB2 gene (2 alternative transcripts): 

    NM_001171653.1  NM_014795.3  

    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 CR597591.1 CR622178.1 

    21 DOTS entries:

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

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

    BM671647 AI468974 AB056507 CR597591 BQ956206 AL546529 BC025696 NM_014795 
    BM475827 BC025730 AI094145 BU688017 AW020915 AB011141 D31109 AI922846 
    BX485772 AI754598 AI359739 AK124806 CK724871 BM468535 AA358106 BM549497 

    Unigene Cluster for ZEB2:

    Zinc finger E-box binding homeobox 2
    Hs.34871  [show with all ESTs]
    Unigene Representative Sequence: NM_014795


    GeneLoc Exon Structure

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

    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:                                                      

    About this scheme

    ECgene alternative splicing isoforms for ZEB2
    18/28 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 28):
    ENST00000470879(uc002tvy.2 uc002twa.2) ENST00000472146(uc002tvw.2)
    ENST00000479735 ENST00000392860 ENST00000462355 ENST00000493689 ENST00000303660(uc002tvu.2 uc002tvv.2 uc010zbm.1 uc010fnp.2 uc010fnq.1)
    ENST00000419938 ENST00000444559 ENST00000392861 ENST00000434448 ENST00000497268
    ENST00000427902 ENST00000475115 ENST00000435262 ENST00000484313(uc002tvx.1)
    ENST00000453352 ENST00000465308

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    ZEB2 expression in normal and diseased human tissues

    1  / 2

    12 probe-sets matching ZEB2 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    35681_r_at2 U95-A 1 0.94 1.00 0.97 0.77 -- -- -- -- --
    46653_at2 U95-B 1 0.88 1.00 1.00 1.06 -- -- -- -- --
    73495_at2 U95-E 1 0.69 1.00 0.96 0.94 -- -- -- -- --
    70325_at2 U95-E 1 0.50 1.00 0.38 1.25 -- -- -- -- --
    203603_s_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --
    233031_at2 U133-B 1 0.73 1.00 -- -- -- -- -- -- --
    228333_at2 U133-B 1 0.64 1.00 -- -- -- -- -- -- --
    235593_at2 U133-B 1 0.55 1.00 -- -- -- -- -- -- --
    203603_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    233031_at2 U133Plus2 1 0.73 1.00 -- -- -- -- -- -- --
    228333_at2 U133Plus2 1 0.64 1.00 -- -- -- -- -- -- --
    235593_at2 U133Plus2 1 0.55 1.00 -- -- -- -- -- -- --
    About this table

    ZEB2 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    ZEB2 gene expression
    ZEB2 gene electronic northern expression
    ZEB2 gene sage expression
    About these images

    CGAP SAGE TAG: CTCGAATAAA

    SOURCE GeneReport for Unigene cluster: Hs.34871
    Primers: OriGene genome-wide validated SYBR primer pairs: ZEB2
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for ZEB2: PPH09021A
        SABiosciences Expression via Pathway-Focused PCR Arrays including ZEB2: PAHS-047A PAHS-090A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for ZEB2 gene from 5/10 species (see all 10)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ZEB21   -- zinc finger E-box binding homeobox 2 93.98(n)
    96.55(a)
    483909  XM_541029.1  XP_541029.1 
    chimpanzee
    (Pan troglodytes)
    ZEB21   -- zinc finger E-box binding homeobox 2 99.81(n)
    99.92(a)
    459644  XM_001158120.1  XP_001158120.1 
    rat
    (Rattus norvegicus)
    Zeb21   -- zinc finger E-box binding homeobox 2 92.78(n)
    97.03(a)
    311071  NM_001033701.1  NP_001028873.1 
    mouse
    (Mus musculus)
    Zeb21 , 5 2 (27.31 cM)5
    zinc finger E-box binding homeobox 21, 5 93.05(n)1
    96.71(a)1
    241361  NM_015753.31  NP_056568.21 
     AF0331165  AI8513845  (see all 35)
    chicken
    (Gallus gallus)
    ZEB21   -- zinc finger E-box binding homeobox 2 89.28(n)
    94.36(a)
    424306  XM_422151.2  XP_422151.2 
    About this table        Species with no ortholog for ZEB2

    ENSEMBL Gene Tree for ZEB2 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for ZEB2 gene
    ZFP12  ZEB12  

    ZEB2 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/1039 NCBI SNPs in ZEB2 are shown (see all 1039)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs7311081,2
    C,F,O,A,145213638(-) GGCAGC/GCTTCT 2 -- int111Minor allele frequency- G:0.09NA EA NS 896
    rs7492331,2
    C,F,A,H,145231557(-) TATAAG/ACTCTG 2 -- int111Minor allele frequency- A:0.45NA EA WA 364
    rs7492341,2
    C,F,O,A,H,145231349(-) CACCAC/TGACTT 2 -- int120Minor allele frequency- T:0.45NS EA NA WA 1120
    rs8905821,2
    C,F,O,A,H,145231520(-) ACCGGG/ATGAAT 2 -- int114Minor allele frequency- A:0.19EA NA WA 442
    rs8905831,2
    C,F,A,145230917(-) TGACAT/CTGGCT 2 -- int123Minor allele frequency- C:0.22NS EA NA WA 1428
    rs8905841,2
    C,145212984(-) TCAGCC/TTGTAA 2 -- int111Minor allele frequency- T:0.00NA NS EA WA 514
    rs9300331,2
    --145168721(+) cGCTTC/TCCCAG 2 -- int10--------
    rs9300341,2
    F,A,145168733(+) GTAATG/ATAATG 2 -- int13Minor allele frequency- A:0.15EA NA 60
    rs9651901,2
    C,F,H,145267242(+) GTTGGG/AAGAAA 2 -- int118Minor allele frequency- A:0.03EA NA NS 2362
    rs9694881,2
    C,H,145167131(+) AGAAGC/GCTCAA 2 -- int110Minor allele frequency- G:0.01NA EA MN WA 196
    About this table

    HapMap Linkage Disequilibrium images for ZEB2 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ZEB2
         1 CNV: 6003

    QIAGEN SeqTarget long-range PCR primers for resequencing ZEB2 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ZEB2 for disorders           About GeneDecksing

    OMIM: 605802   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

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

    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)
    About this table

    GeneTests: ZEB2
    Mowat-Wilson Syndrome

    Human Gene Mutation Database (HGMD): ZEB2
    Human Genome Epidemiology (HuGE) Navigator: ZEB2 (5 documents)

    Export disorders and mutations for ZEB2 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

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

    10/116 PubMed articles for ZEB2 gene, integrated from 7 sources (see all 116):
    (articles sorted by number of sources associating them with ZEB2)
    1. Pc2-mediated sumoylation of Smad-interacting protein 1 attenuates transcriptional repression of E-cadherin. (PubMed id 16061479)1, 2, 7 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, 7 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, 7 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, 7 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, 7 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, 7 Maeda G....Imai K. (2005)

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

      Query String
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    OMIM
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      (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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    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 XenneX, Inc.)
    About This Section
    Patent Information for ZEB2 gene:
    Search GeneIP for patents involving ZEB2

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
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