FOXE1

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
Gene location (Human) Chr. Chromosome 9 (human) Band 9q22.33 Start 97,853,226 bp End 97,856,717 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of thyroid gland left lobe of thyroid gland oral cavity amniotic fluid thymus stromal cell of endometrium superior surface of tongue hair follicle vulva body of tongue n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity sequence-specific DNA binding DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process positive regulation of transcription, DNA-templated soft palate development hair follicle morphogenesis thyroid hormone generation thyroid gland development negative regulation of transcription, DNA-templated pharynx development negative regulation of transcription by RNA polymerase II cell migration embryonic organ morphogenesis regulation of transcription, DNA-templated hard palate development transcription, DNA-templated thymus development roof of mouth development cranial skeletal system development regulation of transcription by RNA polymerase II anatomical structure morphogenesis cell differentiation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2304 110805 Ensembl ENSG00000178919 n/a UniProt O00358 Q8R2I0 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
Wikidata
View/Edit Human View/Edit Mouse

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. S2CID 20745762.
• 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 U.S. 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.