Homo sapiens Protein: ZNF423
InnateDB Protein IDBP-748617.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ZNF423
Protein Name
Synonyms Ebfaz; JBTS19; NPHP14; OAZ; Roaz; Zfp104; ZFP423;
Species Homo sapiens
Ensembl Protein ENSP00000457664
InnateDB Gene IDBG-30289 (ZNF423)
Protein Structure
UniProt Annotation
Function Transcription factor that can both act as an activator or a repressor depending on the context. Plays a central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved in terminal olfactory receptor neurons differentiation; this interaction preventing EBF1 to bind DNA and activate olfactory-specific genes. Involved in olfactory neurogenesis by participating in a developmental switch that regulates the transition from differentiation to maturation in olfactory receptor neurons. Controls proliferation and differentiation of neural precursors in cerebellar vermis formation. {ECO:0000269PubMed:10660046}.
Subcellular Localization Nucleus {ECO:0000269PubMed:10660046}.
Disease Associations Nephronophthisis 14 (NPHP14) [MIM:614844]: 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. {ECO:0000269PubMed:22863007}. Note=The disease is caused by mutations affecting the gene represented in this entry.Joubert syndrome 19 (JBTS19) [MIM:614844]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). JBTS19 patients have polycystic kidney disease, Leber congenital amaurosis, cerebellar vermis hypoplasia, and breathing abnormality. {ECO:0000269PubMed:22863007}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in brain, lung, skeletal muscle, heart, pancreas and kidney but not liver or placenta. Also expressed in aorta, ovary, pituitary, small intestine, fetal brain, fetal kidney and, within the adult brain, in the substantia nigra, medulla, amygdala, thalamus and cerebellum. {ECO:0000269PubMed:10660046}.
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 13 [view]
Protein-Protein 13 [view]
Protein-DNA 0
Protein-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0046872 metal ion binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0007219 Notch signaling pathway
GO:0007399 nervous system development
GO:0030154 cell differentiation
GO:0030513 positive regulation of BMP signaling pathway
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
InterPro IPR007087 Zinc finger, C2H2
IPR015880 Zinc finger, C2H2-like
PFAM PF00096
Post-translational Modifications
SwissProt Q2M1K9
PhosphoSite PhosphoSite-Q2M1K9
UniProt Splice Variant
Entrez Gene 23090
UniGene Hs.617541
RefSeq NP_001258549
OMIM 604557
HPRD 05189
EMBL AB018303 AC007339 AC007603 AC007607 AC007861 AC027348 AF221712 AK027479 BC112315 BC112317
GenPept AAF28354 AAI12316 AAI12318 BAA34480 BAG51329