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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
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