ZNF408 Gene Summary [Human]
The protein encoded by this gene contains ten tandem zinc fingers and an N-terminal SET domain, so it is likely a DNA binding protein that interacts with other proteins. In adults, the encoded protein is expressed most highly in retina. Consequently, defects in this gene have been associated with familial exudative vitreoretinopathy (FEVR) and retinitis pigmentosa (RP). [provided by RefSeq, Dec 2016]
Details
| Type | Protein Coding |
| Official Symbol | ZNF408 |
| Official Name | zinc finger protein 408 [Source:HGNC Symbol;Acc:HGNC:20041] |
| Ensembl ID | ENSG00000175213 |
| Bio databases IDs | |
| Aliases | zinc finger protein 408 |
| Synonyms | EVR6, FLJ12827, Gm1011, RP72, Zfp408, zinc finger protein 408 |
| 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 ZNF408 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
- Zinc-finger double domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- protein binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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 ZNF408 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- 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
- identical protein binding
- protein binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity