BC127102
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
133,806 Da
NCBI Official Full Name
Homo sapiens zinc finger E-box binding homeobox 2, mRNA
NCBI Official Synonym Full Names
zinc finger E-box binding homeobox 2
NCBI Official Synonym Symbols
SIP1; SIP-1; ZFHX1B; HSPC082; SMADIP1 [Similar Products]
NCBI Protein Information
zinc finger E-box-binding homeobox 2
UniProt Protein Name
Zinc finger E-box-binding homeobox 2
UniProt Synonym Protein Names
Smad-interacting protein 1; SMADIP1; Zinc finger homeobox protein 1b
UniProt Synonym Gene Names
UniProt Entry Name
ZEB2_HUMAN
NCBI Summary for 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.[provided by RefSeq, Jan 2010]
UniProt Comments for ZEB2
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: Transcription, coactivator/corepressor; Motility/polarity/chemotaxis; DNA-binding; C2H2-type zinc finger protein
Chromosomal Location of Human Ortholog: 2q22.3
Cellular Component: nucleus
Molecular Function: protein binding
Biological Process: negative regulation of transcription from RNA polymerase II promoter; pigmentation during development; positive regulation of melanin biosynthetic process; positive regulation of melanocyte differentiation; positive regulation of transcription from RNA polymerase II promoter
Disease: Mowat-wilson Syndrome
Research Articles on ZEB2
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Pathways associated with ZEB2 cdna clone
Diseases associated with ZEB2 cdna clone
Organs/Tissues associated with ZEB2 cdna clone
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