FOXE3 Gene Summary [Human]
This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The protein encoded functions as a lens-specific transcription factor and plays an important role in vertebrate lens formation. Mutations in this gene are associated with anterior segment mesenchymal dysgenesis and congenital primary aphakia. [provided by RefSeq, Dec 2009]
Details
| Type | Protein Coding |
| Official Symbol | FOXE3 |
| Official Name | forkhead box E3 [Source:HGNC Symbol;Acc:HGNC:3808] |
| Ensembl ID | ENSG00000186790 |
| Bio databases IDs | |
| Aliases | forkhead box E3 |
| Synonyms | AAT11, ASGD2, CATC3, CTRCT34, dyl, FKHL12, forkhead box E3, FREAC-8, HFH7, HNF3, rct |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FOXE3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- FH_FOX
- sequence-specific DNA binding
- transcription factor activity
- DNA binding
- Forkhead domain
- FORKHEAD
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- multiple types cataract 34
- hypoplasia
- eyelids fail to open
- microphthalmia
- primary congenital aphakia
- susceptibility to familial thoracic aortic aneurysm type 11
- anterior adhesions of iris
- cornea-lens fusion
- anterior segment dysgenesis
- Leber congenital amaurosis
role in cell
- apoptosis
- differentiation
- proliferation
- formation
- cell division
- development
- cell cycle progression
- abnormal morphology
- cell differentiation
- morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FOXE3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mRNA transcription from RNA polymerase II promoter
- transcription from RNA polymerase II promoter
- anatomical structure morphogenesis
- cell development
- lens development in camera-type eye
- cornea development in camera-type eye
- regulation of transcription from RNA polymerase II promoter
- eye development
- trabecular meshwork development
- epithelial cell proliferation
- negative regulation of apoptotic process
- cell differentiation
- iris morphogenesis
- regulation of cell cycle
- ciliary body morphogenesis
- positive regulation of lens epithelial cell proliferation
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity