FOXE1

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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]

External links[edit]

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