Entity Details

Primary name ZBT18_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ99592
EntryNameZBT18_HUMAN
FullNameZinc finger and BTB domain-containing protein 18
TaxID9606
Evidenceevidence at protein level
Length522
SequenceStatuscomplete
DateCreated2002-02-21
DateModified2021-06-02

Ontological Relatives

GenesZBTB18

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000792 heterochromatin
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:0003677 DNA binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007519 skeletal muscle tissue development
GO:0016607 nuclear speck
GO:0043565 sequence-specific DNA binding
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000210 BTB/POZ domainDomainDomain
IPR011333 SKP1/BTB/POZ domain superfamilyFamilyHomologous superfamily
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR036236 Zinc finger C2H2 superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
612337 OMIMMental retardation, autosomal dominant 22 (MRD22)A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD22 patients have limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The disease is caused by variants affecting the gene represented in this entry.