FOXE1

Last updated
FOXE1
Identifiers
Aliases FOXE1 , FKHL15, FOXE2, HFKH4, HFKL5, TITF2, TTF-2, TTF2, NMTC4, forkhead box E1
External IDs OMIM: 602617 MGI: 1353500 HomoloGene: 3291 GeneCards: FOXE1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004473

NM_183298

RefSeq (protein)

NP_004464

NP_899121

Location (UCSC) Chr 9: 97.85 – 97.86 Mb n/a
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Forkhead box protein E1 is a protein that in humans is encoded by the FOXE1 gene. [4] [5] [6]

Contents

Location

The FOXE1 gene is located on the long (q) arm of chromosome 9 at position 22 [7]

Function

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

Mutations in this gene cause Bamforth-Lazarus syndrome [8] 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. [6]

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. [8]

Tissue localization

FOXE1 is expressed transiently in the developing thyroid and the anterior pituitary gland. [9]

Avian FOXE1 is also expressed in developing feathers. [10]

See also

Related Research Articles

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Forkhead box protein G1 is a protein that in humans is encoded by the FOXG1 gene.

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<span class="mw-page-title-main">FOXD4</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">TBX22</span> Protein-coding gene in the species Homo sapiens

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Homeobox protein Hox-A2 is a protein that in humans is encoded by the HOXA2 gene.

Bamforth–Lazarus syndrome is a genetic condition that results in thyroid dysgenesis. It is due to recessive mutations in forkhead/winged-helix domain transcription factor. It is associated with FOXE1.

<span class="mw-page-title-main">FOXE3</span> Protein-coding gene in the species Homo sapiens

Forkhead box protein E3 (FOXE3) also known as forkhead-related transcription factor 8 (FREAC-8) is a protein that in humans is encoded by the FOXE3 gene located on the short arm of chromosome 1.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000178919 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. 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.
  5. 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.
  6. 1 2 "Entrez Gene: FOXE1 forkhead box E1 (thyroid transcription factor 2)".
  7. FOXE1
  8. 1 2 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.
  9. 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.
  10. 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. Bibcode:2011BMCEE..11..302Y. doi: 10.1186/1471-2148-11-302 . PMC   3207924 . PMID   21999483.

Further reading