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FLASH GENE
Symbol ZNF423 contributors: mct/ - updated : 22-05-2015
HGNC name zinc finger protein 423
HGNC id 16762
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 7500 - - brain, lung, skeletal muscle, heart, pancreas, kidney 2000 10660046
8 - 4596 - 1284 heart, skeletal muscle 2000 10660046
8 - 4706 - 1224 - 2000 10660046
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainhindbraincerebellum   Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral   
cell lineage germinal zones
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text brain, kidney
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a BMP-signaling module formed by two clusters of fingers
  • 30 Krüppel-like zinc fingers that are organized into discrete clusters
  • HOMOLOGY
    Homologene
    FAMILY
  • krueppel C2H2-type zinc-finger protein family
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • transcriptionnally activating the homeobox regulator, that may have multiple roles in signal transduction during development
  • can alter the intensity and duration of the BMP stimulus through SMAD6 and indicate that the tissue-specific expression of ZNF243 is a critical determinant of the cellular response to the BMP signal
  • required for normal cerebellar development
  • having a role as a SMAD cofactor in the context of mesodermal patterning
  • component critically required for retinoic acid (RA)-induced differentiation
  • multiple zinc-finger transcription factor involved in both OE/EBF and BMP-signaling pathways, and required for the proper formation of forebrain and hindbrain midline structures (may be having a pivotal role in CNS midline patterning)
  • required for normal cerebellar development
  • required for patterning the development of neuronal and glial precursors in the developing brain, particularly in midline structures
  • has a key role in coordinating the expression of immature and mature stage-specific genes
  • participates in a developmental switch regulating the transition from differentiation to maturation in olfactory-receptor neurons
  • critical cofactor required for RAR/RXR function and is also crucial for RA-mediated growth arrest and differentiation in neuroblastoma cell lines
  • acts to integrate BMP and Notch signaling, selectively promoting their convergence onto the HES5 gene promoter
  • may help maintain a pool of HES5 positive neurogenic progenitors in the developing neural tube
  • role as a cell-autonomous modifier of Notch signal transduction
  • transcriptional activator of PPARG and inducer of adipogenic determination
  • is the key transcription factor committing cells to the adipogenic lineage, with exceptionally dense CpG sites in its promoter
  • regulates early adipogenic differentiation in fetal progenitor cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling signal transduction
    BMP-SMAD and olf pathways
    a component
  • forms a cytosolic complex with the peroxisome proliferator-activated receptor gamma (PPARG) transcriptional activator zinc finger protein 423 (ZNF423)
  • INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • SMADs (in response to bone morphogenetic protein-2 [BMP-2])
  • binds to and negatively regulates EBF1, a basic helix-loop-helix transcription factor required for B-cell lineage commitment and olfactory epithelium development
  • associates with the RARalpha/RXRalpha nuclear receptor complex and is essential for transactivation in response to retinoids
  • interacts with the NOTCH1 intracellular domain in mammalian cell lines, to activate the expression of the NOTCH1 target HES5
  • ZFP423 interacts with the HES5 promoter
  • BMP4 was also able to increase ZFP423 gene activation, adding another layer of cross-talk in promoting adipogenic differentiation
  • canonical WNT signaling inhibits adipogenic commitment and differentiation through WISP2, which retains ZNF423 in the cytosol
  • appeared to be an estrogen-inducible BRCA1 transcription factor
  • cell & other
    REGULATION
    repressed by ZNF521 that is the intrinsic repressor of ZNF423 and hence of adipocyte commitment during BMP-induced mesenchymal precursor differentiation
    ASSOCIATED DISORDERS
    corresponding disease(s) NPHP14
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by RNA interference in neuroblastoma cells results in a growth advantage and resistance to RA-induced differentiation with poor outcome
    tumoral     --low  
    with NF1, in neuroblastomas with poor outcome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Homozygous Zfp423 null mice are runted and ataxic, the cerebellum is underdeveloped, and the vermis is severely reduced
  • Zfp423 null mice develop a profound hypoplasia of the cerebellar vermis, reminiscent of the Dandy-Walker malformation