InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FOXE3

Summary

InnateDB Protein

IDBP-98296.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FOXE3

Protein Name

forkhead box E3

Synonyms

FKHL12; FREAC8;

Species

Homo sapiens

Ensembl Protein

ENSP00000334472

InnateDB Gene

IDBG-98292 (FOXE3)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Nucleus.

Disease Associations

Anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250]: A range of developmental defects in structures at the front of the eye, resulting from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during eye development. Different mature anterior segment anomalies may exist alone or in combination, and are associated with an increased risk of glaucoma and corneal opacity. Conditions falling within the phenotypic spectrum of anterior segment anomalies include aniridia, posterior embryotoxon, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. {ECO:0000269PubMed:11159941, ECO:0000269PubMed:11980846}. Note=The disease is caused by mutations affecting the gene represented in this entry.Congenital primary aphakia (CPA) [MIM:610256]: Aphakia is a rare congenital eye disorder in which the lens is missing. It has been histologically subdivided into primary and secondary forms, in accordance with the severity of defects of the ocular tissues, whose development requires the initial presence of a lens. CPA results from an early developmental arrest, around the 4th-5th week of gestation in humans, that prevents the formation of any lens structure and leads to severe secondary ocular defects, including a complete aplasia of the anterior segment of the eye. In contrast, in secondary aphakic eyes, lens induction has occurred, and the lens vesicle has developed to some degree but finally has progressively resorbed perinatally, leading, therefore, to less-severe ocular defects. {ECO:0000269PubMed:16826526}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0001654	eye development
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0043010	camera-type eye development
GO:0048468	cell development
GO:0050679	positive regulation of epithelial cell proliferation