FOXE3

Forkhead box E3
Identifiers
Symbols	FOXE3 ; FKHL12; FREAC8
External IDs	OMIM: 601094 MGI: 1353569 HomoloGene: 32145 GeneCards: FOXE3 Gene
Gene ontology Molecular function • RNA polymerase II transcription factor activity, sequence-specific DNA binding • DNA binding • transcription factor activity, sequence-specific DNA binding • sequence-specific DNA binding Cellular component • nucleus • transcription factor complex Biological process • lens development in camera-type eye • trabecular meshwork development • regulation of transcription from RNA polymerase II promoter • transcription from RNA polymerase II promoter • anatomical structure morphogenesis • cell differentiation • negative regulation of apoptotic process • cell development • iris morphogenesis • ciliary body morphogenesis • cornea development in camera-type eye • negative regulation of cell cycle arrest • negative regulation of lens fiber cell differentiation • positive regulation of lens epithelial cell proliferation Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	2301	30923
Ensembl	ENSG00000186790	ENSMUSG00000044518
UniProt	Q13461	Q9QY14
RefSeq (mRNA)	NM_012186	NM_015758
RefSeq (protein)	NP_036318	NP_056573
Location (UCSC)	Chr 1: 47.42 – 47.42 Mb	Chr 4: 114.93 – 114.93 Mb
PubMed search

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]

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.

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]

See also

• FOX proteins

References

1. "Entrez Gene: forkhead box E3".
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.
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.
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.
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): 293–299. doi:10.1038/ejhg.2010.210. PMC 3062009. PMID 21150893.

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.
• Brémond-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. PMC 2927439. 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. PMC 316354. 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. PMC 2998041. 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.