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FOXE3 Defects in FOXE3 are a cause of anterior segment mesenchymal dysgenesis (ASMD); also known as anterior segment ocular dysgenesis (ASOD). ASMD consists of 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. Mature anterior segment anomalies are associated with an increased risk of glaucoma and corneal opacity. Conditions falling within the phenotypic spectrum include aniridia, posterior embryotoxon, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. Defects in FOXE3 are a cause of congenital primary aphakia (CPA). 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. Note: This description may include information from UniProtKB.
Protein type: DNA-binding
Chromosomal Location of Human Ortholog: 1p33
Cellular Component: nucleus; transcription factor complex
Molecular Function: DNA binding; DNA binding transcription factor activity; sequence-specific DNA binding
Biological Process: anatomical structure morphogenesis; cell development; cell differentiation; eye development; lens development in camera-type eye; mRNA transcription from RNA polymerase II promoter; negative regulation of apoptosis; regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter
Disease: Anterior Segment Mesenchymal Dysgenesis; Aortic Aneurysm, Familial Thoracic 11, Susceptibility To; Aphakia, Congenital Primary; Cataract 34, Multiple Types
Reference #:  Q13461 (UniProtKB)
Alt. Names/Synonyms: FKHL12; forkhead box E3; Forkhead box protein E3; forkhead, drosophila, homolog-like 12; Forkhead-related protein FKHL12; Forkhead-related transcription factor 8; FOXE3; FREAC-8; FREAC8
Gene Symbols: FOXE3
Molecular weight: 33,234 Da
Basal Isoelectric point: 9.72  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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