ZEB2: Transcriptional inhibitor that binds to DNA sequence 5'- CACCT-3' in different promoters. Represses transcription of E- cadherin. Defects in ZEB2 are the cause of Mowat-Wilson syndrome (MWIS); 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. Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family.
Protein type: C2H2-type zinc finger protein; DNA-binding; Motility/polarity/chemotaxis; Transcription, coactivator/corepressor
Chromosomal Location of Human Ortholog: 2|2 B
Cellular Component: cytosol; nuclear chromatin; nucleolus; nucleus
Molecular Function: DNA binding; metal ion binding; nucleic acid binding; sequence-specific DNA binding
Biological Process: cell proliferation in forebrain; central nervous system development; collateral sprouting; corpus callosum morphogenesis; corticospinal tract morphogenesis; embryonic morphogenesis; hippocampus development; negative regulation of transcription from RNA polymerase II promoter; neural crest cell migration; neural tube closure; pigmentation during development; positive regulation of axonogenesis; positive regulation of JUN kinase activity; positive regulation of melanin biosynthetic process; positive regulation of melanocyte differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of Wnt receptor signaling pathway; regulation of transcription, DNA-templated; somitogenesis; transcription, DNA-dependent
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