FOXE1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Forkhead box E1 (thyroid transcription factor 2)
Identifiers
Symbols FOXE1 ; FKHL15; FOXE2; HFKH4; HFKL5; TITF2; TTF-2; TTF2
External IDs OMIM602617 MGI1353500 HomoloGene3291 GeneCards: FOXE1 Gene
RNA expression pattern
PBB GE FOXE1 206912 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2304 110805
Ensembl ENSG00000178919 ENSMUSG00000070990
UniProt O00358 Q8R2I0
RefSeq (mRNA) NM_004473 NM_183298
RefSeq (protein) NP_004464 NP_899121
Location (UCSC) Chr 9:
100.62 – 100.62 Mb
Chr 4:
46.34 – 46.35 Mb
PubMed search [1] [2]

Forkhead box protein E1 is a protein that in humans is encoded by the FOXE1 gene.[1][2][3]

Location[edit]

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

Function[edit]

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[4] 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.[3]

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.[4]

Tissue localization[edit]

FOXE1 is expressed transiently in the developing thyroid and the anterior pituitary gland.[5]

Avian FOXE1 is also expressed in developing feathers.[6]

See also[edit]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: FOXE1 forkhead box E1 (thyroid transcription factor 2)". 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ 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]

  • 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[edit]

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