FOXE1 Gene Summary [Human]
This intronless gene encodes a protein that belongs to the forkhead family of transcription factors. Members of this family contain a conserved 100-amino acid DNA-binding 'forkhead' domain. The encoded protein functions as a thyroid transcription factor that plays a role in thyroid morphogenesis. Mutations in this gene are associated with the Bamforth-Lazarus syndrome, and with susceptibility to nonmedullary thyroid cancer-4. [provided by RefSeq, Nov 2016]
Details
| Type | Protein Coding |
| Official Symbol | FOXE1 |
| Official Name | forkhead box E1 [Source:HGNC Symbol;Acc:HGNC:3806] |
| Ensembl ID | ENSG00000178919 |
| Bio databases IDs | |
| Aliases | forkhead box E1, thyroid transcription factor 2 |
| Synonyms | BAMLAZ, FKHL15, forkhead box E1, FOXE2, HFKH4, HFKL5, NMTC4, thyroid transcription factor-2, TITF2, TTF-2 |
| 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 FOXE1 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
- double-stranded DNA binding
- protein binding
- 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
- athyroidal hypothyroidism with spiky hair and cleft palate
- nonmedullary thyroid cancer type 4
- papillary thyroid cancer
- Hutchinson-Gilford progeria syndrome
- anaplastic thyroid carcinoma
- anaplastic thyroid cancer
- epithelial thyroid cancer
- palatal shelves fail to meet at midline
- cleft lip
- hypothyroidism
role in cell
- growth
- morphology
- Clathrin mediated endocytosis by
- number
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 FOXE1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- hard palate development
- soft palate development
- thyroid hormone generation
- anatomical structure morphogenesis
- thymus development
- regulation of transcription from RNA polymerase II promoter
- embryonic organ morphogenesis
- negative regulation of transcription from RNA polymerase II promoter
- thyroid gland development
- positive regulation of transcription, DNA-dependent
- cell differentiation
- hair follicle morphogenesis
- cell migration
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- 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