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FLASH GENE
Symbol ZNF408 contributors: mct - updated : 01-12-2015
HGNC name zinc finger protein 408
HGNC id 20041
Corresponding disease
EVR6 exudative vitreoretinopathy 6
RP72 retinitis pigmentosa 72
Location 11p11.2      Physical location : 46.722.316 - 46.727.467
Synonym name
  • PR domain zinc finger protein 17
  • Synonym symbol(s) FLJ12827
    DNA
    TYPE functioning gene
    STRUCTURE 5.15 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2507 78.4 720 - 2013 23716654
    5 - 2222 - 712 - 2013 23716654
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node    
     spleen    
    Respiratorylung    
    Visualeyeretina  predominantly Homo sapiens
     eye     Homo sapiensFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualamacrine cell Homo sapiens
    Visualcone photoreceptor Homo sapiens
    Visualganglion cell Homo sapiens
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one putative N-terminal SET domain, thought to be involved in protein–protein interactions, in the regulation of chromatin-mediated gene expression
  • tandem C-terminal 10 C2H2-type zinc-finger domains, each consisting of two cysteine and two histidine residues thought to be crucial for DNA binding
  • HOMOLOGY
    interspecies homolog to murine Gm1011
    Homologene
    FAMILY family of zinc finger transcription factors
    CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text
  • cytoplasmic localization and a nuclear distribution in areas corresponding with the euchromatin fraction
  • basic FUNCTION
  • involved in the regulation of transcription, DNA-dependent
  • has an important role in eye development and homeostasis
  • likely may be involved in a wide range of functions apart from high-affinity DNA binding
  • potential crucial transcription factor that plays an important role in retinal vasculogenesis
  • may likely play additional roles apart from its implication in vasculature development
  • role of ZNF408 protein in the development and maintaining of retinal blood vessels
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
    Zn2+
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RP72 , EVR6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS