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FLASH GENE
Symbol FOXD3 contributors: mct - updated : 28-04-2015
HGNC name forkhead box D3
HGNC id 3804
Location 1p31.3      Physical location : 63.788.729 - 63.790.797
Synonym name
  • HNF3/FH transcription factor genesis
  • transcription factor-like
  • Synonym symbol(s) HFH2, Genesis, AIS1
    DNA
    TYPE functioning gene
    STRUCTURE 2.07 kb     1 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   enhancer
    text structure
  • two FOXD3 enhancers, NC1 and NC2, that drive reporter expression in spatially and temporally distinct manners
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 2078 - 478 - 2003 14595015
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas     Homo sapiens
    Reproductivemale systemprostate   
    Visualeye    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiens
    cell lineage
  • restrictively hematopoietic cells
  • ETS1 and FOXD3 are expressed concomitantly in the cranial neural crest
  • cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text
  • in the dorsal mesendoderm and ectoderm
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a forkhead (FH, winged helix) domain with two loops-wings on the C-terminal side of helix-turn-helix homeo domain
  • an homeobox DNA-binding domain
  • 1 pou-specific domain
  • HOMOLOGY
    interspecies homolog to murine hepatocyte nuclear factor 3
    homolog to Drosophila homeo forkhead DNA binding domain
    Homologene
    FAMILY
  • forkhead family of transcription factors
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • embryonic transcriptional regulator
  • forkhead transcription factor that is a primary regulator of melanoblast differentiation in the embryonic neural crest
  • controls the lineage choice between neural/glial and pigment cells by repressing MITF during the early phase of neural crest migration
  • stemness factor that prevents the production of melanocyte progenitors from the developing neural crest
  • having a role as a negative cell cycle regulator
  • FOXD3 and PAX3 act together to affect survival and maintenance of cardiac neural crest progenitors
  • its expression downregulates migration and invasion in melanoma cells and RND3, a target known to be involved in these properties
  • required for maintenance and self-renewal of several diverse progenitor cell lineages
  • TFAP2A and FOXD3, in addition to their respective roles in the differentiation of neural crest derivatives, also jointly maintain the balance of BMP and WNT signaling in order to delineate the neural crest induction domain
  • crucial roles played by FOXD3 during enteric nervous system development including progenitor proliferation, neural patterning, and glial differentiation
  • is an important stem cell factor expressed in many types of embryonic cells including neural crest cells
  • promotes cranial neural crest EMT by eliciting TSPAN18 downregulation separable from its TSPAN18-independent activity during neural crest specification and survival
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • direct regulatory connection between the neural plate border genes, PAX7 and MSX1/2, and FOXD3, suggesting it is an immediate downstream target
  • neural plate border specifier, ZIC1, is a critical factor in the control of FOXD3 expression at vagal and trunk levels
  • post-translational regulation of CDH6 protein levels by TSPAN18 that must be relieved by a FOXD3-dependent mechanism in order for cranial neural crest cells to migrate
  • FOXD3 is crucial for initial downregulation of TSPAN18, but other factors subsequently impact TSPAN18 expression
  • binding of HOXB5 to FOXD3 promoter (HOXB5 regulated the neural crest (NC) development by directly inducing FOXD3)
  • cell & other
    REGULATION
    Other differential regulation of FOXD3 in the cranial and trunk neural crest cells
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    results in developmental failure of melanoblasts and vitiligo
    Susceptibility to vitiligo
    Variant & Polymorphism SNP -639G>T promoter substitution may be the cause of AIS1-dependent vitiligo
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice carrying a pancreas-specific deletion of Foxd3 have impaired glucose tolerance, decreased beta-cell mass, decreased bet-cell proliferation, and decreased beta-cell size during pregnancy