ZNF469 Gene Summary [Human]
This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ZNF469 |
| Official Name | zinc finger protein 469 [Source:HGNC Symbol;Acc:HGNC:23216] |
| Ensembl ID | ENSG00000225614 |
| Bio databases IDs | |
| Aliases | zinc finger protein 469 |
| Synonyms | BCS, BCS1, Gm22, LOC195209, LOC687587, Zfp469, Zfp469-ps1, zinc finger protein 469, Znf469-ps1 |
| 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 ZNF469 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Zinc finger, C2H2 type
- transcription regulator
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- liver cancer
- Fanconi anemia, group A
- keratoconus type 1
- corneal fragility keratoglobus, blue sclerae and joint hypermobility
- prostate cancer
- hepatocellular carcinoma
- Ehlers-Danlos syndrome
- age-related hearing loss
role in cell
- proliferation
- adhesion
- organization
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ZNF469 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
Cellular Component
Where in the cell the gene product is active
- nucleus
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- metal ion binding