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AliasesFOXE1, FKHL15, FOXE2, HFKH4, HFKL5, TITF2, TTF-2, TTF2, NMTC4, forkhead box E1
External IDsOMIM: 602617 MGI: 1353500 HomoloGene: 3291 GeneCards: FOXE1
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC)Chr 9: 97.85 – 97.86 MbChr 4: 46.34 – 46.35 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse

Forkhead box protein E1 is a protein that in humans is encoded by the FOXE1 gene.[5][6][7]


The FOXE1 gene is located on the long (q) arm of chromosome 9 at position 22[8]


This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene functions as a thyroid transcription factor which likely plays a crucial role in thyroid morphogenesis.

Clinical significance[edit]

Mutations in this gene cause Bamforth-Lazarus syndrome[9] and are associated with congenital hypothyroidism and cleft palate with thyroid dysgenesis. The map localization of this gene suggests it may also be a candidate gene for squamous cell epithelioma and hereditary sensory neuropathy type I.[7]

The region surrounding the FOXE1 gene has shown association in the pathogenesis of cleft lip and palate with genome-wide levels of significance in linkage analysis studies with additional fine-mapping and replication.[9]

Tissue localization[edit]

FOXE1 is expressed transiently in the developing thyroid and the anterior pituitary gland.[10]

Avian FOXE1 is also expressed in developing feathers.[11]

See also[edit]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000178919 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000070990 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Chadwick BP, Obermayr F, Frischauf AM (Jul 1997). "FKHL15, a new human member of the forkhead gene family located on chromosome 9q22". Genomics. 41 (3): 390–6. doi:10.1006/geno.1997.4692. PMID 9169137.
  6. ^ Clifton-Bligh RJ, Wentworth JM, Heinz P, Crisp MS, John R, Lazarus JH, Ludgate M, Chatterjee VK (Sep 1998). "Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia". Nat Genet. 19 (4): 399–401. doi:10.1038/1294. PMID 9697705. S2CID 20334877.
  7. ^ a b "Entrez Gene: FOXE1 forkhead box E1 (thyroid transcription factor 2)".
  8. ^ FOXE1
  9. ^ a b Dixon MJ, Marazita ML, Beaty TH, Murray JC (March 2011). "Cleft lip and palate: understanding genetic and environmental influences". Nat. Rev. Genet. 12 (3): 167–78. doi:10.1038/nrg2933. PMC 3086810. PMID 21331089.
  10. ^ Zannini M, Avantaggiato V, Biffali E, et al. (June 1997). "TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation". EMBO J. 16 (11): 3185–97. doi:10.1093/emboj/16.11.3185. PMC 1169936. PMID 9214635.
  11. ^ Yaklichkin SY, Darnell DK, Pier MV, et al. (Oct 2011). "Accelerated evolution of 3'avian FOXE1 genes, and thyroid and feather specific expression of chicken FoxE1". BMC Evol. Biol. 11 (302): 3185–97. doi:10.1186/1471-2148-11-302. PMC 3207924. PMID 21999483.

Further reading[edit]

External links[edit]