FOXE3
entrez
2301
canonical
uniprot
Q13461
canonical
ensembl
ENSG00000186790
resolver
ensp
ENSP00000334472
resolver
enst
ENST00000335071
resolver
genesymbol
FOXE3
resolver
genesymbol_syn
FKHL12
resolver
genesymbol_syn
FREAC8
resolver
hgnc
HGNC:3808
resolver
uniprot
A0A0A1EII5
resolver
uniprot
Q5SVY9
resolver
uniprot
Q9NQV9
resolver
uniprot_entry
A0A0A1EII5_HUMAN
resolver
uniprot_entry
FOXE3_HUMAN
resolver
uniprot_sec
Q5SVY9
resolver
uniprot_sec
Q9NQV9
resolver
amino_acid_sequence
MAGRSDMDPPAAFSGFPALPAVAPSGPPPSPLAGAEPGREPEEAAAGRGEAAPTPAPGPGRRRRRPLQRGKPPYSYIALIAMALAHAPGRRLTLAAIYRFITERFAFYRDSPRKWQNSIRHNLTLNDCFVKVPREPGNPGKGNYWTLDPAAADMFDNGSFLRRRKRFKRAELPAHAAAAPGPPLPFPYAPYAPAPGPALLVPPPSAGPGPSPPARLFSVDSLVNLQPELAGLGAPEPPCCAAPDAAAAAFPPCAAAASPPLYSQVPDRLVLPATRPGPGPLPAEPLLALAGPAAALGPLSPGEAYLRQPGFASGLERYL
uniprot
proteins
disease_involvement
DISEASE: Anterior segment dysgenesis 2 (ASGD2) [MIM:610256]: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. Some ASGD2 patients show congenital primary aphakia, a defect caused by eye development arrest around the 4th-5th week of gestation. This prevents the formation of any lens structure and leads to severe secondary ocular anomalies, 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. ASGD2 inheritance is autosomal recessive. {ECO:0000269|PubMed:11159941, ECO:0000269|PubMed:11980846, ECO:0000269|PubMed:16826526, ECO:0000269|PubMed:19708017, ECO:0000269|PubMed:25504734}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cataract 34, multiple types (CTRCT34) [MIM:612968]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. {ECO:0000269|PubMed:27218149}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Aortic aneurysm, familial thoracic 11 (AAT11) [MIM:617349]: A form of thoracic aortic aneurysm, a disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. {ECO:0000269|PubMed:26854927}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor that controls lens epithelial cell growth through regulation of proliferation, apoptosis and cell cycle (PubMed:22527307, PubMed:25504734). During lens development, controls the ratio of the lens fiber cells to the cells of the anterior lens epithelium by regulating the rate of proliferation and differentiation (By similarity). Controls lens vesicle closure and subsequent separation of the lens vesicle from ectoderm (By similarity). Controls the expression of DNAJB1 in a pathway that is crucial for the development of the anterior segment of the eye (PubMed:27218149). {ECO:0000250|UniProtKB:Q9QY14, ECO:0000269|PubMed:22527307, ECO:0000269|PubMed:25504734, ECO:0000269|PubMed:27218149}.
uniprot
proteins
mass_dalton
33234
uniprot
proteins
pubmed
11159941
uniprot
proteins
pubmed
11980846
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16826526
uniprot
proteins
pubmed
19708017
uniprot
proteins
pubmed
22527307
uniprot
proteins
pubmed
25504734
uniprot
proteins
pubmed
26854927
uniprot
proteins
pubmed
27218149
uniprot
proteins
pubmed
8825632
uniprot
proteins
sequence_length
319
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25504734}.
uniprot
proteins