Entity Details

Primary name ZNF423
Entity type gene
Source Source Link

Details

PrimaryID23090
RefseqGeneNG_032972
SymbolZNF423
Namezinc finger protein 423
Chromosome16
Location16q12.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-04-17
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsZN423_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:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006355 regulation of transcription, DNA-templated
GO:0007219 Notch signaling pathway
GO:0021930 cerebellar granule cell precursor proliferation
GO:0021938 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation
GO:0030154 cell differentiation
GO:0030513 positive regulation of BMP signaling pathway
GO:0043565 sequence-specific DNA binding
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046872 metal ion binding
GO:0060271 cilium assembly
GO:0061512 protein localization to cilium
GO:0120163 negative regulation of cold-induced thermogenesis

Diseases

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Disease IDSourceNameDescription
614844 OMIMNephronophthisis 14 (NPHP14)An autosomal recessive disorder manifesting as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Nephronophthisis is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. The disease is caused by variants affecting the gene represented in this entry.
614844 OMIMNephronophthisis 14 (NPHP14)An autosomal recessive disorder manifesting as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Nephronophthisis is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. The disease is caused by variants affecting the gene represented in this entry.