FOXD3 Gene Summary [Human]
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. Mutations in this gene cause autoimmune susceptibility 1. [provided by RefSeq, Nov 2008]
Details
| Type | Protein Coding |
| Official Symbol | FOXD3 |
| Official Name | forkhead box D3 [Source:HGNC Symbol;Acc:HGNC:3804] |
| Ensembl ID | ENSG00000187140 |
| Bio databases IDs | |
| Aliases | forkhead box D3 |
| Synonyms | AIS1, CWH3, forkhead box D3, Genesis, HFH2, VAMAS2 |
| 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 FOXD3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- FH_FOX
- DNA binding domain
- nucleic acid binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- Forkhead domain
- FORKHEAD
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- transcription factor activity
Pathways
Biological processes and signaling networks where the FOXD3 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- major depression
- cancer
- neoplasia
- melanoma cancer
- gastrulation failure
- aniridia
- gastrointestinal stromal tumor
- gastrointestinal stromal neoplasia
- susceptibility to autoimmune disease type 1
role in cell
- cell death
- expression in
- proliferation
- migration
- growth
- cell cycle progression
- differentiation
- suppression
- chemotaxis
- size
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
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FOXD3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- in utero embryonic development
- cell differentiation
- anatomical structure morphogenesis
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- chromatin
- nucleoplasm
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
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity