Human Gene ZNF423 (ENST00000562871.5) Description and Page Index
  Description: 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. (from UniProt Q2M1K9)
RefSeq Summary (NM_015069): The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012].
Gencode Transcript: ENST00000562871.5
Gencode Gene: ENSG00000102935.11
Transcript (Including UTRs)
   Position: hg38 chr16:49,490,605-49,780,609 Size: 290,005 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg38 chr16:49,491,275-49,730,867 Size: 239,593 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:49,490,605-49,780,609)mRNA (may differ from genome)Protein (1224 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGImyGene2neXtProtPubMedStanford SOURCEUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: ZN423_HUMAN
DESCRIPTION: RecName: Full=Zinc finger protein 423; AltName: Full=Olf1/EBF-associated zinc finger protein; Short=hOAZ; AltName: Full=Smad- and Olf-interacting zinc finger protein;
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.
SUBUNIT: Homodimer (By similarity). Interacts with EBF1 (By similarity). Interacts with SMAD1 and SMAD4. Interacts with PARP1. Interacts with CEP290.
INTERACTION: P10276:RARA; NbExp=2; IntAct=EBI-950016, EBI-413374;
SUBCELLULAR LOCATION: Nucleus.
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.
DOMAIN: Uses different DNA- and protein-binding zinc fingers to regulate the distinct BMP-Smad and Olf signaling pathways. C2H2- type zinc fingers 14-19 mediate the interaction with SMAD1 and SMAD4, while zinc fingers 28-30 mediate the interaction with EBF1. zinc fingers 2-8 bind the 5'-CCGCCC-3' DNA sequence in concert with EBF1, while zinc fingers 9-13 bind BMP target gene promoters in concert with SMADs.
DISEASE: Note=Defects in ZNF423 can be a cause of nephronophthisis-related ciliopathies (NPHP-RC), a group of recessive diseases that affect kidney, retina and brain. ZNF423 mutations have been found in patients with nephronophthisis, cerebellar vermis hypoplasia and situs inversus, and Joubert syndrome.
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 30 C2H2-type zinc fingers.

-  MalaCards Disease Associations
  MalaCards Gene Search: ZNF423
Diseases sorted by gene-association score: nephronophthisis 14* (1339), znf423-related joubert syndrome* (500), joubert syndrome with oculorenal anomalies* (202), nephronophthisis (11), leber congenital amaurosis (1), joubert syndrome 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.35 RPKM in Brain - Cerebellum
Total median expression: 93.03 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -41.00169-0.243 Picture PostScript Text
3' UTR -155.00670-0.231 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00096 - Zinc finger, C2H2 type

ModBase Predicted Comparative 3D Structure on Q2M1K9
FrontTopSide
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
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:0006355 regulation of transcription, DNA-templated
GO:0007219 Notch signaling pathway
GO:0007275 multicellular organism development
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
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  AB018303 - Homo sapiens mRNA for KIAA0760 protein, partial cds.
AK304829 - Homo sapiens cDNA FLJ55885 complete cds, highly similar to Homo sapiens zinc finger protein 423 (ZNF423), mRNA.
AK309835 - Homo sapiens cDNA, FLJ99876.
AK027479 - Homo sapiens cDNA FLJ14573 fis, clone NT2RM4000734, highly similar to Homo sapiens zinc finger protein 423 (ZNF423), mRNA.
BC112315 - Homo sapiens zinc finger protein 423, mRNA (cDNA clone MGC:138520 IMAGE:8327783), complete cds.
BC112317 - Homo sapiens zinc finger protein 423, mRNA (cDNA clone MGC:138522 IMAGE:8327785), complete cds.
AK314742 - Homo sapiens cDNA, FLJ95604.
AB462926 - Synthetic construct DNA, clone: pF1KSDA0760, Homo sapiens ZNF423 gene for zinc finger protein 423, without stop codon, in Flexi system.
HQ258687 - Synthetic construct Homo sapiens clone IMAGE:100072717 zinc finger protein 423 (ZNF423) gene, encodes complete protein.
KJ898441 - Synthetic construct Homo sapiens clone ccsbBroadEn_07835 ZNF423 gene, encodes complete protein.
AF221712 - Homo sapiens Smad- and Olf-interacting zinc finger protein mRNA, partial cds.
KC155256 - Homo sapiens cell-line C666-1 UBR5/ZNF423 fusion protein mRNA, complete cds.
JD058711 - Sequence 39735 from Patent EP1572962.
JD273697 - Sequence 254721 from Patent EP1572962.
JD284755 - Sequence 265779 from Patent EP1572962.
JD445699 - Sequence 426723 from Patent EP1572962.
JD051298 - Sequence 32322 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AB018303, KIAA0760, NPHP14, O94860, OAZ, Q2M1K9, Q76N04, Q9NZ13, uc059tyw.1, ZN423_HUMAN
UCSC ID: uc059tyw.1
RefSeq Accession: NM_015069
Protein: Q2M1K9 (aka ZN423_HUMAN)
CCDS: CCDS32445.1, CCDS61930.1, CCDS81979.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ZNF423:
hepatic-fibrosis (Congenital Hepatic Fibrosis Overview)
joubert (Joubert Syndrome)
nephron-ov (Nephronophthisis)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.