Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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)
    Physical map
    HSD17B3 9q22.3 hydroxysteroid (17-beta) dehydrogenase 3 SLC35D2 9q22.33 solute carrier family 35, member D2 ZNF367 9q22 zinc finger protein 367 HABP4 9q22.3-q31 hyaluronan binding protein 4 CDC14B 9q22.32 CDC14 cell division cycle 14 homolog B (S. cerevisiae) C9orf21 9q22.32 chromosome 9 open reading frame 21 LOC286355 9q22.33 similar to hypothetical protein ZNF510 9q22.33 zinc finger protein 510 LOC158431 9q22.33 similar to zinc finger protein 11b (KOX 2) LOC347262 9q22.33 similar to hypothetical protein FLJ40432 LOC392369 9 similar to hypothetical protein HIATL2 9q22.33 hippocampus abundant gene transcript-like 2 CTSL2 9q22.2 cathepsin L2 TCEA1P 9q22.33 transcription elongation factor A (SII), 1 pseudogene LOC340508 9q22.33 hypothetical protein LOC340508 LOC389776 9 similar to RIKEN cDNA 2810453I06 LOC392370 9 similar to SNAG1 KIAA1529 9q22.33 KIAA1529 LOC389777 9 LOC389777 LOC286359 9q22.33 hypothetical protein LOC286359 PCTAIRE2BP 9q22.33 tudor repeat associator with PCTAIRE 2 TMOD1 9q22.32-q22.33 tropomodulin 1 LOC158427 9q22.33 PP4189 NCBP1 9q34.1 nuclear cap binding protein subunit 1, 80kDa XPA 9q22.32 xeroderma pigmentosum, complementation group A LOC392371 9 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) FOXE1 9q22.3 forkhead box E1 (thyroid transcription factor 2) NAP1 19q13.33 pronapsin A HEMGN 9q22.33 hemogen ANP32B 9q22.32 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B NANS 9p24.1-p23 N-acetylneuraminic acid synthase (sialic acid synthase) TRIM14 9q22.32 tripartite motif-containing 14 CORO2A 9q22.3 coronin, actin binding protein, 2A TBC1D2 9q22.33 TBC1 domain family, member 2 GPR51 9q22.1 G protein-coupled receptor 51 SAMD6 9q31.1 sterile alpha motif domain containing 6 GALNT12 9q22.33 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) LOC392372 9 similar to Nucleoside diphosphate kinase B (NDK B) (NDP kinase B) (P18) COL15A1 9q22.32-q22.33 collagen, type XV, alpha 1 TGFBR1 9q22 transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa) ALG2 9q31.1 asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase) SEC61B 9q22.32-q31.3 asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase) LOC347265 9q31.1 similar to bA13B9.3 (novel protein similar to KRT8)
    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