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 w... See more...

Aliases for ZNF423 Gene

Aliases for ZNF423 Gene

  • Zinc Finger Protein 423 2 3 4 5
  • Early B-Cell Factor Associated Zinc Finger Protein 2 3
  • Smad- And Olf-Interacting Zinc Finger Protein 3 4
  • Olf1/EBF-Associated Zinc Finger Protein 3 4
  • NPHP14 3 4
  • HOAZ 3 4
  • OAZ 3 4
  • Smad- And Olf-Interacting Zinc Finger Protein 2
  • OLF-1/EBF Associated Zinc Finger Gene 2
  • OLF-1/EBF Associated Zinc Finger 3
  • KIAA0760 4
  • JBTS19 3
  • ZFP423 3
  • Zfp104 3
  • Ebfaz 3
  • Roaz 3

External Ids for ZNF423 Gene

Previous GeneCards Identifiers for ZNF423 Gene

  • GC16M049303
  • GC16M048082
  • GC16M049524
  • GC16M035413

Summaries for ZNF423 Gene

Entrez Gene Summary for ZNF423 Gene

  • 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]

GeneCards Summary for ZNF423 Gene

ZNF423 (Zinc Finger Protein 423) is a Protein Coding gene. Diseases associated with ZNF423 include Nephronophthisis 14 and Arima Syndrome. Among its related pathways are TGF-beta Receptor Signaling (WikiPathways) and Differentiation of white and brown adipocyte. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF521.

UniProtKB/Swiss-Prot Summary for ZNF423 Gene

  • 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.

Gene Wiki entry for ZNF423 Gene

Additional gene information for ZNF423 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF423 Gene

Genomics for ZNF423 Gene

GeneHancer (GH) Regulatory Elements for ZNF423 Gene

Promoters and enhancers for ZNF423 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J049850 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 501.8 +2.4 2421 9.2 EP300 CTCF NRF1 TCF12 USF1 ZIC2 REST ZBTB10 ZNF263 ZNF423 ZNF423 HSALNG0111306 HSALNG0111304
GH16J050367 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 20.2 -510.8 -510761 3 ZNF300 POLR2G USF1 BCLAF1 RBAK NONO PHF8 PHB2 ZFX CTCF BRD7 ENSG00000261393 ZNF423 SNX20
GH16J049695 Enhancer 1.9 VISTA UCNEbase ENCODE CraniofacialAtlas dbSUPER 12.9 +157.8 157760 8.9 EP300 ZSCAN5C MYC TEAD4 ZIC2 ZNF423 BHLHE40 ATF2 HDAC2 MXI1 ZNF423 MRPS21P7 RF00017-2066
GH16J049638 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.3 +218.2 218242 2.8 MYC MXI1 NR2F2 USF1 ZFHX2 E2F6 SMAD4 RCOR1 ATF4 BHLHE40 ZNF423 RF00017-2066 lnc-C16orf78-8
GH16J049084 Enhancer 0.9 Ensembl 22.6 +773.0 773018 0.2 RBAK ZNF354C ZBTB10 ZNF662 ATF2 ZEB1 ZNF148 SALL2 KLF9 CREB1 SIAH1 ZNF423 MTND4LP25 HSALNG0111276 LOC105371241 ENSG00000287469
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNF423 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNF423

Top Transcription factor binding sites by QIAGEN in the ZNF423 gene promoter:
  • ARP-1
  • Bach2
  • Elk-1
  • Lmo2
  • MyoD
  • NF-kappaB1
  • Nkx2-5
  • Pax-5
  • POU6F1 (c2)

Genomic Locations for ZNF423 Gene

Genomic Locations for ZNF423 Gene
chr16:49,487,524-49,857,919
(GRCh38/hg38)
Size:
370,396 bases
Orientation:
Minus strand
chr16:49,521,435-49,891,830
(GRCh37/hg19)
Size:
370,396 bases
Orientation:
Minus strand

Genomic View for ZNF423 Gene

Genes around ZNF423 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF423 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF423 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF423 Gene

Proteins for ZNF423 Gene

  • Protein details for ZNF423 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M1K9-ZN423_HUMAN
    Recommended name:
    Zinc finger protein 423
    Protein Accession:
    Q2M1K9
    Secondary Accessions:
    • O94860
    • Q76N04
    • Q9NZ13

    Protein attributes for ZNF423 Gene

    Size:
    1284 amino acids
    Molecular mass:
    144605 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with EBF1 (By similarity). Interacts with SMAD1 and SMAD4. Interacts with PARP1. Interacts with CEP290.

    Three dimensional structures from OCA and Proteopedia for ZNF423 Gene

    Alternative splice isoforms for ZNF423 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZNF423 Gene

Post-translational modifications for ZNF423 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZNF423 Gene

Domains & Families for ZNF423 Gene

Gene Families for ZNF423 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZNF423 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF423 Gene

GenScript: Design optimal peptide antigens:
  • Smad- and Olf-interacting zinc finger protein (ZN423_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2M1K9

UniProtKB/Swiss-Prot:

ZN423_HUMAN :
  • 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.
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
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.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZNF423: view

Function for ZNF423 Gene

Molecular function for ZNF423 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for ZNF423 Gene

Gene Ontology (GO) - Molecular Function for ZNF423 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IBA 21873635
GO:0003700 DNA-binding transcription factor activity IBA 21873635
GO:0005515 protein binding IPI 19345331
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNF423: view
genes like me logo Genes that share phenotypes with ZNF423: view

Human Phenotype Ontology for ZNF423 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ZNF423 Gene

MGI Knock Outs for ZNF423:

Animal Model Products

CRISPR Products

Transcription Factor Targets for ZNF423 Gene

Selected GeneGlobe predicted Target genes for ZNF423

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF423

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for ZNF423 Gene

Localization for ZNF423 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF423 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZNF423 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZNF423 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IBA 10660046
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with ZNF423: view

Pathways & Interactions for ZNF423 Gene

genes like me logo Genes that share pathways with ZNF423: view

Pathways by source for ZNF423 Gene

Gene Ontology (GO) - Biological Process for ZNF423 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IBA 21873635
GO:0007219 Notch signaling pathway ISS --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with ZNF423: view

No data available for SIGNOR curated interactions for ZNF423 Gene

Drugs & Compounds for ZNF423 Gene

(2) Drugs for ZNF423 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
raloxifene Approved, Investigational Pharma Antagonist 0
Tamoxifen Approved Pharma Antagonist TGF-β modulatory and PKC inhibitory effects, ER antagonist, Anti-Estrogens 455
genes like me logo Genes that share compounds with ZNF423: view

Transcripts for ZNF423 Gene

mRNA/cDNA for ZNF423 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF423

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF423 Gene

No ASD Table

Relevant External Links for ZNF423 Gene

GeneLoc Exon Structure for
ZNF423

Expression for ZNF423 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNF423 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZNF423 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (64.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ZNF423 Gene



Protein tissue co-expression partners for ZNF423 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNF423

SOURCE GeneReport for Unigene cluster for ZNF423 Gene:

Hs.530930

mRNA Expression by UniProt/SwissProt for ZNF423 Gene:

Q2M1K9-ZN423_HUMAN
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.

Evidence on tissue expression from TISSUES for ZNF423 Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF423 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • diaphragm
  • heart
  • heart valve
  • lung
Abdomen:
  • kidney
  • liver
Pelvis:
  • penis
  • ureter
  • urinary bladder
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with ZNF423: view

No data available for mRNA differential expression in normal tissues for ZNF423 Gene

Orthologs for ZNF423 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZNF423 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZNF423 31 30
  • 99.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ZNF423 31 30
  • 93.85 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ZNF423 31 30
  • 93.6 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZNF423 31
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Zfp423 17 31 30
  • 91.61 (n)
rat
(Rattus norvegicus)
Mammalia Zfp423 30
  • 91.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ZNF423 31
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZNF423 31 30
  • 79.98 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZNF423 31
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia znf423 30
  • 74.5 (n)
zebrafish
(Danio rerio)
Actinopterygii znf423 31
  • 98 (a)
OneToMany
ZNF423 (1 of 2) 31
  • 76 (a)
OneToMany
si:ch211-216l23.1 30
  • 74.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta Oaz 31
  • 25 (a)
OneToMany
Species where no ortholog for ZNF423 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZNF423 Gene

ENSEMBL:
Gene Tree for ZNF423 (if available)
TreeFam:
Gene Tree for ZNF423 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZNF423: view image

Paralogs for ZNF423 Gene

Variants for ZNF423 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNF423 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
37288 Pathogenic: Joubert syndrome 19 49,637,633(-) TG/T FRAMESHIFT_VARIANT
37289 Pathogenic: Joubert syndrome 19 49,491,301(-) G/A MISSENSE_VARIANT
640556 Uncertain Significance: Nephronophthisis 14 49,523,618(-) A/T INTRON_VARIANT
641503 Uncertain Significance: Nephronophthisis 14 49,636,192(-) G/A MISSENSE_VARIANT
641665 Uncertain Significance: Nephronophthisis 14 49,638,371(-) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ZNF423 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZNF423 Gene

Variant ID Type Subtype PubMed ID
dgv5115n54 CNV loss 21841781
dgv5116n54 CNV gain 21841781
dgv5117n54 CNV loss 21841781
esv1610530 CNV deletion 17803354
esv2661154 CNV deletion 23128226
esv2662064 CNV deletion 23128226
esv2670302 CNV deletion 23128226
esv2714452 CNV deletion 23290073
esv2714453 CNV deletion 23290073
esv2714454 CNV deletion 23290073
esv2714455 CNV deletion 23290073
esv28561 CNV loss 19812545
esv3345028 CNV duplication 20981092
esv3385096 CNV duplication 20981092
esv3553407 CNV deletion 23714750
esv3571175 CNV gain 25503493
esv3638597 CNV loss 21293372
esv3892857 CNV gain 25118596
nsv1070350 CNV deletion 25765185
nsv1071289 CNV deletion 25765185
nsv1123056 CNV deletion 24896259
nsv1126428 CNV deletion 24896259
nsv1127503 CNV deletion 24896259
nsv1131114 CNV deletion 24896259
nsv1136216 CNV deletion 24896259
nsv478476 CNV novel sequence insertion 20440878
nsv507815 OTHER sequence alteration 20534489
nsv509620 CNV insertion 20534489
nsv517237 CNV loss 19592680
nsv519328 CNV gain 19592680
nsv522048 CNV loss 19592680
nsv527406 CNV loss 19592680
nsv572580 CNV gain 21841781
nsv827643 CNV loss 20364138
nsv827644 CNV gain 20364138
nsv833222 CNV loss 17160897
nsv833223 CNV loss 17160897

Variation tolerance for ZNF423 Gene

Residual Variation Intolerance Score: 4.13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.74; 57.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNF423 Gene

Human Gene Mutation Database (HGMD)
ZNF423
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF423

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF423 Gene

Disorders for ZNF423 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ZNF423 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephronophthisis 14
  • nphp14
arima syndrome
  • dekaban-arima syndrome
infantile nephronophthisis
  • nephronophthisis 2
nephronophthisis
  • medullary cystic disease
ras-associated autoimmune leukoproliferative disorder
  • rald
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZN423_HUMAN
  • 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:0000269 PubMed: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:0000269 PubMed:22863007}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ZNF423

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ZNF423: view

No data available for Genatlas for ZNF423 Gene

Publications for ZNF423 Gene

No publications were found for ZNF423 Gene.

Products for ZNF423 Gene

Sources for ZNF423 Gene