FOXE1

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

Forkhead box protein E1 is a protein that in humans is encoded by the FOXE1 gene.

Location

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

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 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.

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.

Tissue localization

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

Avian FOXE1 is also expressed in developing feathers.

See also

• FOX proteins

Further reading

• Wiese S, Emmerich D, Schröder B, et al. (1997). "The novel human HNF-3/fork head-like 5 gene: chromosomal localization and expression pattern". DNA Cell Biol. 16 (2): 165–71. doi:10.1089/dna.1997.16.165. PMID 9052737.
• Zannini M, Avantaggiato V, Biffali E, et al. (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.
• Macchia PE, Mattei MG, Lapi P, et al. (1999). "Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2)". Biochimie. 81 (5): 433–40. doi:10.1016/S0300-9084(99)80092-3. PMID 10403172.
• Wang JC, Waltner-Law M, Yamada K, et al. (2000). "Transducin-like enhancer of split proteins, the human homologs of Drosophila groucho, interact with hepatic nuclear factor 3beta". J. Biol. Chem. 275 (24): 18418–23. doi:10.1074/jbc.M910211199. PMID 10748198.
• Sequeira MJ, Morgan JM, Fuhrer D, et al. (2002). "Thyroid transcription factor-2 gene expression in benign and malignant thyroid lesions". Thyroid. 11 (11): 995–1001. doi:10.1089/105072501753271662. PMID 11762722.
• Castanet M, Park SM, Smith A, et al. (2003). "A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate". Hum. Mol. Genet. 11 (17): 2051–9. doi:10.1093/hmg/11.17.2051. PMID 12165566.
• Sequeira M, Al-Khafaji F, Park S, et al. (2004). "Production and application of polyclonal antibody to human thyroid transcription factor 2 reveals thyroid transcription factor 2 protein expression in adult thyroid and hair follicles and prepubertal testis". Thyroid. 13 (10): 927–32. doi:10.1089/105072503322511328. PMID 14611701.
• Romanelli MG, Tato' L, Lorenzi P, Morandi C (2004). "Nuclear localization domains in human thyroid transcription factor 2". Biochim. Biophys. Acta. 1643 (1–3): 55–64. doi:10.1016/j.bbamcr.2003.09.002. PMID 14654228.
• Eichberger T, Regl G, Ikram MS, et al. (2004). "FOXE1, a new transcriptional target of GLI2 is expressed in human epidermis and basal cell carcinoma". J. Invest. Dermatol. 122 (5): 1180–7. doi:10.1111/j.0022-202X.2004.22505.x. PMID 15140221.
• Tonacchera M, Banco M, Lapi P, et al. (2005). "Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate". Thyroid. 14 (8): 584–8. doi:10.1089/1050725041692864. PMID 15320969.
• Brancaccio A, Minichiello A, Grachtchouk M, et al. (2005). "Requirement of the forkhead gene Foxe1, a target of sonic hedgehog signaling, in hair follicle morphogenesis". Hum. Mol. Genet. 13 (21): 2595–606. doi:10.1093/hmg/ddh292. PMID 15367491.
• Watkins WJ, Harris SE, Craven MJ, et al. (2006). "An investigation into FOXE1 polyalanine tract length in premature ovarian failure". Mol. Hum. Reprod. 12 (3): 145–9. doi:10.1093/molehr/gal017. PMID 16481406.
• Baris I, Arisoy AE, Smith A, et al. (2006). "A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis". J. Clin. Endocrinol. Metab. 91 (10): 4183–7. doi:10.1210/jc.2006-0405. PMID 16882747.

External links

• FOXE1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
• FOXE1 human gene location in the UCSC Genome Browser.
• FOXE1 human gene details in the UCSC Genome Browser.