ZEB2

Function

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).

Involvement in disease

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.

None

The disease is caused by variants affecting the gene represented in this entry.

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 activity.

Sequence Similarities

Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family.

Cellular localization

• Nucleus
• Chromosome

Alternative names

KIAA0569, SIP1, ZFHX1B, ZFX1B, HRIHFB2411, ZEB2, Zinc finger E-box-binding homeobox 2, Smad-interacting protein 1, Zinc finger homeobox protein 1b, SMADIP1

Database links

swissprot:O60315 entrezGene:9839 omim:605802

Other research areas

• Immunology & Infectious Disease