Entity Details

Primary name ZN462_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96JM2
EntryNameZN462_HUMAN
FullNameZinc finger protein 462
TaxID9606
Evidenceevidence at protein level
Length2506
SequenceStatuscomplete
DateCreated2004-02-02
DateModified2021-06-02

Ontological Relatives

GenesZNF462

GO terms

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GOName
GO:0003677 DNA binding
GO:0005634 nucleus
GO:0006325 chromatin organization
GO:0010468 regulation of gene expression
GO:0043392 negative regulation of DNA binding
GO:0045944 positive 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
618619 OMIMWeiss-Kruszka syndrome (WSKA)An autosomal dominant, multiple congenital anomaly syndrome with variable expressivity and complete penetrance. Patients manifest developmental delay, hypotonia, feeding difficulties, craniofacial abnormalities including ptosis, abnormal head shape, downslanting palpebral fissures, metopic ridging, and craniosynostosis. Variable congenital heart defects can be observed in some patients. A few patients show agenesis of the corpus callosum on brain imaging. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions