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FLASH GENE
Symbol ZC4H2 contributors: mct - updated : 13-01-2022
HGNC name zinc finger, C4H2 domain containing
HGNC id 24931
Corresponding disease
AGMCX2 arthrogryposis multiplex congenita 2
WRWF Wieacker-Wolf syndrome
Location Xq11.2      Physical location : 64.136.249 - 64.254.593
Synonym name
  • hepatocellular carcinoma-associated antigen 127
  • KIAA1166
  • Synonym symbol(s) HCA127, KIAA1166, MCS, MRXS4, WRWF, WRWFFR, WWS
    DNA
    TYPE functioning gene
    STRUCTURE 118.94 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2189 - 224 - 2013 23623388
    5 - 2719 - 201 - 2013 23623388
    5 - 2974 - 201 - 2013 23623388
    4 - 2649 - 176 - 2013 23623388
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainlimbic systemhippocampus highly Mus musculus
     brainbasal nuclei    Homo sapiens
    Reproductivefemale systemuterus   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningneuroepithelium  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • C4H2-type zinc finger
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text
  • localized to the postsynaptic compartment of excitatory synapses
  • basic FUNCTION
  • should have a neuronal function during fetal growth
  • plays an important role during embryonic development of the central and peripheral nervous systems
  • RNF220 and its cofactor ZC4H2 participate in ventral neural tube patterning by modulating Shh/Gli signaling
  • ubiquitin E3 ligase RNF220 and its co-factor ZC4H2 are required for multiple neural developmental processes through different targets, including spinal cord patterning and the development of the cerebellum and the locus coeruleus
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • RNF220 cooperates with ZC4H2 to specify spinal progenitor domains (
  • ZC4H2 is required for the stability of RNF220 and also proper Gli ubiquitination and signaling
  • ZC4H2 is a positive modulator of TRPV4
  • ZC4H2 and RNF220 are likely involved in the regulation of neural stem cell proliferation and differentiation through CEND1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) WRWF , AGMCX2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS