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FLASH GENE
Symbol FOXE1 contributors: mct/npt - updated : 29-08-2008
HGNC name forkhead box E1 (thyroid transcription factor 2)
HGNC id 3806
Corresponding disease
HTAT hypothyroidism, athyroidal, with cleft palate
Location 9q22.33      Physical location : 100.615.536 - 100.618.986
Synonym name
  • transcription factor-like 15
  • forkhead (Drosophila)-like 15
  • thyroid transcription factor-2
  • forkhead box E2
  • HNF-3/fork head-like protein 5
    • Synonym symbol(s) FKHL15, TITF2, TTF2, FOXE2, HFKH4, HFKL5, TTF-2, TTF2
    DNA
    TYPE functioning gene
    STRUCTURE 3.46 kb     1 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D9S780 - TMOD1 - NCBP1 - XPA XPA - FOXE1 - D9S180 - qter
    Authors Chadwick (97)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 3473 - 373 - Macchia (1999), Carre (2007)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
     intestinesmall intestine   
     liver    
    Endocrinethyroid   highly
    Skin/Tegumentskin    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    Skin/Tegumenthair follicle cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text
  • the developing thyroid, in most of the foregut endoderm, and in craniopharyngeal ectoderm, including Rathke pouch, placenta
    • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a forkhead (FH, winged helix ) domain
  • two loops-wings on the C-terminal side of helix-turn-helix (HLH) homeo domain
  • a stretch of alanine GCC repeat
  • two putative nuclear localization signals (NLS)
    • HOMOLOGY
    interspecies homolog to Drosophila homeo forkhead DNA binding domain
    Homologene
    FAMILY
  • HNF-3 forkhead family of transcriptional activator
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    text expression in in the epithelium undergoing fusion between the medial nasal and maxillary processes (Moreno 2009)
    basic FUNCTION
  • embryonic transcriptional regulator of thyroid development
  • maybe a negative controller of thyroid specific gene expression
  • putative role in mediating HH signaling in the epidermis downstream of GLI2
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • target of the SHH/GLI pathway in hair follicle morphogenesis (target GLI2)
  • potentially regulating expression of thyroid specific genes during development
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HTAT
    Susceptibility
  • nonsyndromic orofacial clefting
  • to thyroid dysgenesis
  • to permanent primary congenital hypothyroidism
  • to thyroid cancer
    • Variant & Polymorphism repeat
  • genotype 16/16 and 16/14 protecting against thyroid dysgenesis
  • variations in the length of the Ala-tract could at least partially explain the etiology of primary congenital hypothyroidism (Santarpia 2007)
  • association between thyroid cancer and rs965513 is mediated through processes involving FOXE1(Gudmundsson 2009)
  • common variants have a substantial impact on the occurrence of cleft lip and palate (Moreno 2009)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS