InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ZEB2

Summary

InnateDB Protein

IDBP-294094.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ZEB2

Protein Name

zinc finger E-box binding homeobox 2

Synonyms

HSPC082; SIP-1; SIP1; SMADIP1; ZFHX1B;

Species

Homo sapiens

Ensembl Protein

ENSP00000386854

InnateDB Gene

IDBG-71713 (ZEB2)

Protein Structure

UniProt Annotation

Function

Transcriptional inhibitor that binds to DNA sequence 5'- CACCT-3' in different promoters. Represses transcription of E- cadherin. {ECO:0000269PubMed:16061479}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:16061479, ECO:0000269PubMed:9853615}.

Disease Associations

Mowat-Wilson syndrome (MOWS) [MIM:235730]: 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. 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. {ECO:0000269PubMed:11448942, ECO:0000269PubMed:12451214, ECO:0000269PubMed:15384097, ECO:0000269PubMed:16688751}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	29 [view]
Protein-Protein	26 [view]
Protein-DNA	1 [view]
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	1 [view]
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003676	nucleic acid binding
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0019208	phosphatase regulator activity
GO:0043565	sequence-specific DNA binding
GO:0046872	metal ion binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007399	nervous system development
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:0097324	melanocyte migration
GO:1903056	regulation of melanosome organization