DEF8 Gene Summary [Human]
Predicted to enable metal ion binding activity. Predicted to be involved in lysosome localization; positive regulation of bone resorption; and positive regulation of ruffle assembly. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | DEF8 |
| Official Name | differentially expressed in FDCP 8 homolog [Source:HGNC Symbol;Acc:HGNC:25969] |
| Ensembl ID | ENSG00000140995 |
| Bio databases IDs | |
| Aliases | differentially expressed in FDCP 8 homolog |
| Synonyms | D8Ertd713e, differentially expressed in FDCP 8, differentially expressed in FDCP 8 homolog, FLJ20186 |
| 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 DEF8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein kinase C conserved region 1 (C1 domain) superfamily
- protein binding
- Putative zinc-RING and/or ribbon
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
- squamous cell cancer
- epithelial basal cell carcinoma
- seborrheic keratosis
- melanoma cancer
- vitiligo
- squamous-cell carcinoma
- melanoma
- actinic keratosis
- epidermal inclusion cyst
regulated by
role in cell
- assembly
- localization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Unknown
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DEF8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lysosome localization
- positive regulation of bone resorption
- positive regulation of ruffle assembly
Molecular Function
What the gene product does at the molecular level
- metal ion binding