Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
    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
    Physical map
    LOC391044 1 similar to prohibitin FLJ10986 1p32.1 hypothetical protein FLJ10986 HOOK1 1p32.1 hook homolog 1 (Drosophila) CYP2J2 1p31.3-p31.2 cytochrome P450, family 2, subfamily J, polypeptide 2 MGC34837 1p32.1 hypothetical protein MGC34837 NFIA 1p31.3-p31.2 nuclear factor I/A BBP 1p32.1 beta-amyloid binding protein precursor INADL 1p32.1-p31.3 beta-amyloid binding protein precursor FLJ10884 1p32.1 hypothetical protein FLJ10884 LOC388637 1 similar to LOC163782 protein USP1 1p32.1-p31.3 ubiquitin specific protease 1 ANGPTL3 1p31 angiopoietin-like 3 AUTL1 1p31.3 AUT-like 1, cysteine endopeptidase (S. cerevisiae) LOC199897 1p32.1 hypothetical LOC199897 LOC388638 1 LOC388638 FOXD3 1p32-p31 forkhead box D3 ALG6 1p31.3 forkhead box D3 ITGB3BP 1p31.3 integrin beta 3 binding protein (beta3-endonexin) KIAA1799 1p31.3 KIAA1799 protein PGM1 1p22.3 phosphoglucomutase 1 ROR1 1p32-p31 receptor tyrosine kinase-like orphan receptor 1 MGC35130 1p31.3 hypothetical protein MGC35130 KIAA1573 1p31.3 KIAA1573 protein KIAA1579 1p31.3 hypothetical protein FLJ10770 JAK1 1p31.3 Janus kinase 1 (a protein tyrosine kinase) LOC391045 1 similar to Solute carrier family 2, facilitated glucose transporter, member 3 (Glucose transporter type 3, brain) MRPS21P1 1p31.3 mitochondrial ribosomal protein S21 pseudogene AK3 1p31 adenylate kinase 3 DNAJC6 1pter-q31.3 DnaJ (Hsp40) homolog, subfamily C, member 6 LEPR 1p31 leptin receptor PDE4B 1p31 phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila) DKFZp761D221 1p31.3 hypothetical protein DKFZp761D221 FLJ40873 1p31.3 hypothetical protein FLJ40873 INSL5 1p31.1-p22.3 insulin-like 5 FLJ23129 1p31.3 hypothetical protein FLJ23129 MI-ER1 1p31.3 mesoderm induction early response 1 SLC35D1 1p32-p31 solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 IL23R 1p31.3-p31.2 interleukin-23 receptor IL12RB2 1p31.3-p31.2 interleukin 12 receptor, beta 2 PAI-RBP1 1p31-p22 PAI-1 mRNA-binding protein LOC391046 1 similar to heterogeneous nuclear ribonucleoprotein C isoform b; nuclear ribonucleoprotein particle C1 protein; nuclear ribonucleoprotein particle C2 protein
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 2078 - 478 - 2003 14595015
    Type restricted
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas     Homo sapiens
    Reproductivemale systemprostate   
    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
    at STAGE
    physiological period embryo
  • in the dorsal mesendoderm and ectoderm
  • 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
    interspecies homolog to murine hepatocyte nuclear factor 3
    homolog to Drosophila homeo forkhead DNA binding domain
  • forkhead family of transcription factors
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    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
    a component
    DNA binding
    small molecule
  • 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
    Other differential regulation of FOXD3 in the cranial and trunk neural crest cells
    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
    Therapy target
  • 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