FOXE3

Forkhead box E3
Identifiers
Symbols	FOXE3; FKHL12; FREAC8
External IDs	OMIM: 601094 MGI: 1353569 HomoloGene: 32145 GeneCards: FOXE3 Gene
Gene Ontology
Molecular function	• double-stranded DNA binding; • sequence-specific DNA binding transcription factor activity; • RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; • transcription factor binding; • DNA binding, bending; • sequence-specific DNA binding;
Cellular component	• nucleus; • transcription factor complex;
Biological process	• lens morphogenesis in camera-type eye; • regulation of transcription, DNA-dependent; • transcription from RNA polymerase II promoter; • thyroid hormone generation; • multicellular organismal development; • pattern specification process; • peripheral nervous system development; • cell migration; • thyroid gland development; • hair follicle morphogenesis; • positive regulation of transcription from RNA polymerase II promoter; • enteric nervous system development; • sympathetic nervous system development; • embryonic organ morphogenesis; • axon extension involved in axon guidance; • lateral line nerve glial cell development; • positive regulation of epithelial cell proliferation; • regulation of sequence-specific DNA binding transcription factor activity; • hard palate development; • soft palate development;
	Sources: Amigo / QuickGO
Orthologs
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Forkhead box protein E3 (FOXE3) also known as forkhead-related transcription factor 8 (FREAC-8) is a protein that in humans is encoded by the FOXE3 gene located on the short arm of chromosome 1.^[1]

[edit] Function

FOXE3 is a forkhead-box transcription factor which is involved in the proper formation of the ocular lens and is post-natally expressed in the lens epithelium.

[edit] Clinical significance

Mutations in the FOXE3 gene are associated with anterior segment mesenchymal dysgenesis.^[2]

Homozygous mutations in this gene have been associated with a number of ocular diseases such as congenital aphakia,^[3]^[4] sclerocornea, microphthalmia, and optic disc coloboma.^[5] There have also been reports of heterozygous mutations causing less severe ocular diseases such as anterior segment dysgenesis (sometimes referred to as anterior segment mesenchymal dysgenesis),^[2] and Peter's anomaly.^[6]

[edit] See also

FOX proteins

[edit] References

^ "Entrez Gene: forkhead box E3". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2301.
^ ^a ^b Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M (February 2001). "Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts". Hum. Mol. Genet. 10 (3): 231–6. doi:10.1093/hmg/10.3.231. PMID 11159941.
^ Anjum I, Eiberg H, Baig SM, Tommerup N, Hansen L (2010). "A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family". Mol. Vis. 16: 549–55. PMC 2846847. PMID 20361012.
^ Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B (August 2006). "Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans". Am. J. Hum. Genet. 79 (2): 358–64. doi:10.1086/505654. PMC 1559477. PMID 16826526.
^ Ali M, Buentello-Volante B, McKibbin M, Rocha-Medina JA, Fernandez-Fuentes N, Koga-Nakamura W, Ashiq A, Khan K, Booth AP, Williams G, Raashid Y, Jafri H, Rice A, Inglehearn CF, Zenteno JC (2010). "Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma". Mol. Vis. 16: 1162–8. PMC 2901196. PMID 20664696.
^ Doucette, Lance; Jane Green, Bridget Fernandez, Gordon J Johnson, Patrick Parfrey, Terry-Lynn Young (2011). "A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly". European Journal of Human Genetics 19 (3). doi:10.1038/ejhg.2010.210. PMC 3062009. PMID 21150893.

[edit] Further reading

Iseri SU, Osborne RJ, Farrall M, et al. (2009). "Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.". Hum. Mutat. 30 (10): 1378–86. doi:10.1002/humu.21079. PMID 19708017.
BrÃ©mond-Gignac D, Bitoun P, Reis LM, et al. (2010). "Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.". Mol. Vis. 16: 1705–11. PMID 20806047.
Perosa F, Vicenti C, Racanelli V, et al. (2010). "The immunodominant epitope of centromere-associated protein A displays homology with the transcription factor forkhead box E3 (FOXE3).". Clin. Immunol. 137 (1): 60–73. doi:10.1016/j.clim.2010.06.008. PMID 20630806.
Valleix S, Niel F, Nedelec B, et al. (2006). "Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.". Am. J. Hum. Genet. 79 (2): 358–64. doi:10.1086/505654. PMC 1559477. PMID 16826526.
Blixt A, Mahlapuu M, Aitola M, et al. (2000). "A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle.". Genes Dev. 14 (2): 245–54. PMID 10652278.
Reis LM, Tyler RC, Schneider A, et al. (2010). "FOXE3 plays a significant role in autosomal recessive microphthalmia.". Am. J. Med. Genet. A 152A (3): 582–90. doi:10.1002/ajmg.a.33257. PMID 20140963.
Larsson C, Hellqvist M, Pierrou S, et al. (1995). "Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12).". Genomics 30 (3): 464–9. doi:10.1006/geno.1995.1266. PMID 8825632.

This article on a gene on chromosome 1 is a stub. You can help Wikipedia by expanding it.

[entrez-1] "Entrez Gene: forkhead box E3". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2301.

[pmid11159941-2] Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M (February 2001). "Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts". Hum. Mol. Genet. 10 (3): 231–6. doi:10.1093/hmg/10.3.231. PMID 11159941.

[pmid20361012-3] Anjum I, Eiberg H, Baig SM, Tommerup N, Hansen L (2010). "A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family". Mol. Vis. 16: 549–55. PMC 2846847. PMID 20361012.

[pmid16826526-4] Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B (August 2006). "Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans". Am. J. Hum. Genet. 79 (2): 358–64. doi:10.1086/505654. PMC 1559477. PMID 16826526.

[pmid20664696-5] Ali M, Buentello-Volante B, McKibbin M, Rocha-Medina JA, Fernandez-Fuentes N, Koga-Nakamura W, Ashiq A, Khan K, Booth AP, Williams G, Raashid Y, Jafri H, Rice A, Inglehearn CF, Zenteno JC (2010). "Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma". Mol. Vis. 16: 1162–8. PMC 2901196. PMID 20664696.

[6] Doucette, Lance; Jane Green, Bridget Fernandez, Gordon J Johnson, Patrick Parfrey, Terry-Lynn Young (2011). "A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly". European Journal of Human Genetics 19 (3). doi:10.1038/ejhg.2010.210. PMC 3062009. PMID 21150893.

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FOXE3

Contents

[edit] Function

[edit] Clinical significance

[edit] See also

[edit] References

[edit] Further reading

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