Entity Details

Primary name ZEB2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO60315
EntryNameZEB2_HUMAN
FullNameZinc finger E-box-binding homeobox 2
TaxID9606
Evidenceevidence at protein level
Length1214
SequenceStatuscomplete
DateCreated2001-02-21
DateModified2021-06-02

Ontological Relatives

GenesZEB2

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005829 cytosol
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007399 nervous system development
GO:0019208 phosphatase regulator activity
GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway
GO:0043565 sequence-specific DNA binding
GO:0045636 positive regulation of melanocyte differentiation
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding
GO:0048023 positive regulation of melanin biosynthetic process
GO:0048066 developmental pigmentation
GO:0048856 anatomical structure development
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:0097324 melanocyte migration
GO:1903056 regulation of melanosome organization

Subcellular Location

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Subcellular Location
Chromosome
Nucleus

Domains

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DomainNameCategoryType
IPR001356 Homeobox domainDomainDomain
IPR008598 Drought induced 19 protein type, zinc-binding domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR036236 Zinc finger C2H2 superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
235730 OMIMMowat-Wilson syndrome (MOWS)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. The disease is caused by variants affecting the gene represented in this entry.