FOXE1
From Wikipedia, the free encyclopedia
Forkhead box E1 (thyroid transcription factor 2)
|
||||||||||||||
Identifiers | ||||||||||||||
Symbol(s) | FOXE1; FKHL15; FOXE2; HFKH4; HFKL5; TITF2; TTF-2; TTF2 | |||||||||||||
External IDs | OMIM: 602617 MGI: 1353500 HomoloGene: 3291 | |||||||||||||
|
||||||||||||||
RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 2304 | 110805 | ||||||||||||
Ensembl | ENSG00000178919 | ENSMUSG00000070990 | ||||||||||||
Uniprot | O00358 | Q8R2I0 | ||||||||||||
Refseq | NM_004473 (mRNA) NP_004464 (protein) |
XM_975742 (mRNA) XP_980836 (protein) |
||||||||||||
Location | Chr 9: 99.66 - 99.66 Mb | Chr 4: 46.37 - 46.37 Mb | ||||||||||||
Pubmed search | [1] | [2] |
Forkhead box E1 (thyroid transcription factor 2), also known as FOXE1, is a human gene.[1]
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.[1]
Contents[hide] |
[edit] See also
[edit] References
[edit] 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.
- 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: . PMID 9169137.
- 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: . PMID 9214635.
- 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: . PMID 9697705.
- 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.
- 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: . 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: . 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. 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: . 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. 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: . 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: . 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: . 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: . 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: . PMID 16882747.
[edit] External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
|