Entity Details

Primary name ZEP2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP31629
EntryNameZEP2_HUMAN
FullNameTranscription factor HIVEP2
TaxID9606
Evidenceevidence at protein level
Length2446
SequenceStatuscomplete
DateCreated1993-07-01
DateModified2021-06-02

Ontological Relatives

GenesHIVEP2

GO terms

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GOName
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0003677 DNA binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR036236 Zinc finger C2H2 superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
616977 OMIMMental retardation, autosomal dominant 43 (MRD43)A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD43 patients manifest developmental delay, intellectual disability, hypotonia, and dysmorphic features. The disease is caused by variants affecting the gene represented in this entry.