Entity Details

Primary name ZIC2
Entity type gene
Source Source Link

Details

PrimaryID7546
RefseqGeneNG_007085
SymbolZIC2
NameZic family member 2
Chromosome13
Location13q32.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-04-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsZIC2_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:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007417 central nervous system development
GO:0007420 brain development
GO:0007601 visual perception
GO:0016604 nuclear body
GO:0030154 cell differentiation
GO:0031490 chromatin DNA binding
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046872 metal ion binding
GO:0051091 positive regulation of DNA-binding transcription factor activity

Diseases

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Disease IDSourceNameDescription
609637 OMIMHoloprosencephaly 5 (HPE5)A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. The disease is caused by variants affecting the gene represented in this entry.