Property Summary

NCBI Gene PubMed Count 22
Grant Count 30
R01 Count 28
Funding $3,239,409.46
PubMed Score 27.90
PubTator Score 29.98

Knowledge Summary


No data available


Gene RIF (15)

26854927 FOXE3 mutations lead to a reduced number of aortic smooth muscle cells (SMCs) during development and increased SMC apoptosis in the ascending aorta in response to increased biomechanical forces.
25504734 This is the first functional evidence demonstrating that FOXE3 mutations identified in patients impair protein function with differential effects.
24689660 Our results indicate that the FOXE3 p.Val201Met allele is associated with eye defects (OR = 3.5), suggesting its involvement as an ocular malformation risk factor.
24019743 This study demonstrates that a cluster of patients with sclerocornea, aphakia, and microphthalmia in a small Mexican village is due to a FOXE3 p.Y98H founder mutation.
22527307 shRNA-mediated gene silencing of FOXE3 could significantly inhibit cell growth and induce the G1-phase arrest in human lens epithelial cell line-3 cells.
22204637 The FOXE3 mutation detected in c.601 G > A, predicting p.Val201Met which were not yet been included in public databases, but has previously been reported in both A/M patients.
21150893 Autosomal-dominant mutations within FOXE3 cause anterior segment dysgenesis and has important clinical utility, especially for the diagnosis of mildly affected patients.
20806047 Mutations in several transcription factors associated with aniridia and congenital cataract, FOXE3, (PAX6), PITX2, and PITX3 genes, were examined.
20664696 This is the fourth report detailing homozygous FOXE3 mutations causing anterior segment abnormalities in human patients.
20630806 Using autoantibodies from systemic sclerosis (SSc) patients, two anti-CENP-A-specific motifs were defined in its immunodominant epitope Ap17-30. One of these motifs matched residues 53-62 of FOXE3, a protein not previously implicated in SSc.

AA Sequence

LPAEPLLALAGPAAALGPLSPGEAYLRQPGFASGLERYL                                   281 - 319

Text Mined References (21)

PMID Year Title
26854927 2016 FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.
25504734 2015 Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease.
24689660 2014 Mutational screening of FOXE3, GDF3, ATOH7, and ALDH1A3 in congenital ocular malformations. Possible contribution of the FOXE3 p.VAL201MET variant to the risk of severe eye malformations.
24019743 2013 An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village.
22527307 2012 Growth inhibition of human lens epithelial cells by short hairpin RNA in transcription factor forkhead box E3 (FOXE3).
22204637 2011 Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.
21150893 2011 A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly.
20806047 2010 Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.
20664696 2010 Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.
20630806 2010 The immunodominant epitope of centromere-associated protein A displays homology with the transcription factor forkhead box E3 (FOXE3).