FOXE1

Forkhead box E1 (thyroid transcription factor 2)
Identifiers
Symbols	FOXE1 ; FKHL15; FOXE2; HFKH4; HFKL5; TITF2; TTF-2; TTF2
External IDs	Template:OMIM5 Template:MGI HomoloGene: 3291
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
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

Forkhead box E1 (thyroid transcription factor 2), also known as FOXE1, is a human gene.

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. Mutations in this gene 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.

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. PMID 9052737.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chadwick BP, Obermayr F, Frischauf AM (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.CS1 maint: Multiple names: authors list (link)
• 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. PMID 9214635.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Clifton-Bligh RJ, Wentworth JM, Heinz P; et al. (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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 10403172.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12165566.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 14654228.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• FOXE1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.