ID:ZEB2_HUMAN DESCRIPTION: RecName: Full=Zinc finger E-box-binding homeobox 2; AltName: Full=Smad-interacting protein 1; Short=SMADIP1; AltName: Full=Zinc finger homeobox protein 1b; FUNCTION: Transcriptional inhibitor that binds to DNA sequence 5'- CACCT-3' in different promoters. Represses transcription of E- cadherin. 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. PTM: 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. DISEASE: 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. 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. SEQUENCE CAUTION: Sequence=BAA25495.2; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ZEB2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O60315
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0003676 nucleic acid binding GO:0003677 DNA binding GO:0005515 protein binding GO:0019208 phosphatase regulator activity GO:0043565 sequence-specific DNA binding GO:0046872 metal ion binding GO:0070412 R-SMAD binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001755 neural crest cell migration GO:0001756 somitogenesis GO:0001843 neural tube closure GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0007399 nervous system development GO:0007417 central nervous system development GO:0021540 corpus callosum morphogenesis GO:0021766 hippocampus development GO:0021846 cell proliferation in forebrain GO:0021957 corticospinal tract morphogenesis GO:0030177 positive regulation of Wnt signaling pathway GO:0043507 positive regulation of JUN kinase activity GO:0045636 positive regulation of melanocyte differentiation GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048023 positive regulation of melanin biosynthetic process GO:0048066 developmental pigmentation GO:0048598 embryonic morphogenesis GO:0048668 collateral sprouting GO:0050772 positive regulation of axonogenesis GO:0061373 mammillary axonal complex development GO:0097324 melanocyte migration GO:1902748 positive regulation of lens fiber cell differentiation GO:1903056 regulation of melanosome organization
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
