ZEB2

Zinc finger E-box-binding homeobox 2 ;
Smad-interacting protein 1 ;
SMADIP1 ;
Zinc finger homeobox protein 1b ;

disease:Defects in ZEB2 are the cause of Hirschsprung disease-mental retardation syndrome (Hirschsprung disease) [MIM:235730]; also known as Mowat-Wilson syndrome (MWS). Hirschsprung disease is a rare autosomal dominant complex developmental disorder. Individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, 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. Additionally, the phenotypic spectrum of facultative congenital anomalies includes short stature, microcephaly, Hirschsprung disease, malformations of the brain (agenesis of corpus callosum, cerebral atrophy) and eye (microphthalmia), seizures, congenital heart defects and genitourinary malformations, in particular hypospadias. The development of psychomotor skills and speech is delayed in most patients. Overall, the grade of mental retardation is at least moderate, but usually severe including characteristic abnormal behavior.,function:Transcriptional inhibitor that binds to DNA sequence 5'-CACCT-3' in different promoters. Represses transcription of E-cadherin.,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.,similarity:Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family.,similarity:Contains 1 homeobox DNA-binding domain.,similarity:Contains 7 C2H2-type zinc fingers.,subunit:Binds activated SMAD1, activated SMAD2 and activated SMAD3; binding with SMAD4 is not detected (By similarity). Interacts with CBX4 and CTBP1.,

ameboidal cell migration, neural crest cell migration, somitogenesis, embryonic epithelial tube formation, neural tube formation, neural tube closure, regulation of protein amino acid phosphorylation, morphogenesis of an epithelium,regionalization, transcription, regulation of transcription, DNA-dependent, cell motion, pattern specification process,cell proliferation, embryonic development ending in birth or egg hatching, negative regulation of biosynthetic process,anterior/posterior pattern formation, positive regulation of signal transduction, negative regulation of macromolecule biosynthetic process, negative regulation of macromolecule metabolic process, regulation of protein kinase cascade,negative regulation of gene expression, positive regulation of cell communication, primary neural tube formation,mesenchymal cell development, neural crest cell development, neural crest cell differentiation, morphogenesis of embryonic epithelium, cell migration, negative regulation of transcription, regulation of phosphate metabolic process,telencephalon development, pallium development, limbic system development, hippocampus development, cell proliferation in forebrain, neural tube development, regulation of Wnt receptor signaling pathway, positive regulation of Wnt receptor signaling pathway, forebrain development, negative regulation of cellular biosynthetic process,regulation of protein modification process, regulation of cellular protein metabolic process, positive regulation of kinase activity, tube lumen formation, tube morphogenesis, segmentation, tube development, regulation of phosphorylation, chordate embryonic development, positive regulation of catalytic activity, regulation of MAP kinase activity, positive regulation of MAP kinase activity, regulation of MAPKKK cascade, regulation of JUN kinase activity,positive regulation of JUN kinase activity, regulation of kinase activity, positive regulation of molecular function,regulation of transcription, regulation of protein kinase activity, positive regulation of protein kinase activity, negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process, regulation of JNK cascade,embryonic morphogenesis, tissue morphogenesis, mesenchymal cell differentiation, cell motility, negative regulation of nitrogen compound metabolic process, regulation of phosphorus metabolic process, regulation of RNA metabolic process, regulation of transferase activity, positive regulation of transferase activity, localization of cell, epithelium development, mesenchyme development, epithelial tube morphogenesis, tube closure, regulation of stress-activated protein kinase signaling pathway, regulation of cellular response to stress,

Nucleus . Chromosome .