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.

ZEB2

Transcriptional inhibitor that binds to DNA sequence 5'-CACCT-3' in different promoters (PubMed:16061479, PubMed:20516212).
Represses transcription of E-cadherin (PubMed:16061479).
Represses expression of MEOX2 (PubMed:20516212).

Biological Process anatomical structure development Source:GO_Central1 Publication
Biological Process developmental pigmentation Source:BHF-UCLBy Similarity
Biological Process melanocyte migration Source:BHF-UCLBy Similarity
Biological Process negative regulation of transcription by RNA polymerase II Source:BHF-UCL2 Publications
Biological Process nervous system development Source:UniProtKB1 Publication
Biological Process positive regulation of canonical Wnt signaling pathway Source:DIBU1 Publication
Biological Process positive regulation of melanin biosynthetic process Source:BHF-UCL1 Publication
Biological Process positive regulation of melanocyte differentiation Source:BHF-UCLBy Similarity
Biological Process positive regulation of transcription by RNA polymerase II Source:BHF-UCL1 Publication
Biological Process positive regulation of transforming growth factor beta receptor signaling pathway Source:DIBU1 Publication
Biological Process regulation of melanosome organization Source:BHF-UCLBy Similarity
Biological Process regulation of transcription by RNA polymerase II Source:GO_Central1 Publication

Nucleus
Chromosome

Mowat-Wilson syndrome (MOWS):
A complex developmental disorder characterized by intellectual disability, 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.

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.