Entity Details

Primary name HIVEP2
Entity type gene
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Details

PrimaryID3097
RefseqGeneNG_047004
SymbolHIVEP2
NameHIVEP zinc finger 2
Chromosome6
Location6q24.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-17
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsZEP2_HUMAN

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

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.