Unc13d Gene Summary [Mouse]
Predicted to enable small GTPase binding activity. Involved in positive regulation of substrate adhesion-dependent cell spreading. Acts upstream of or within several processes, including defense response to other organism; germinal center formation; and granuloma formation. Predicted to be located in Weibel-Palade body; cytosol; and lysosome. Predicted to be active in exocytic vesicle. Used to study familial hemophagocytic lymphohistiocytosis 3. Human ortholog(s) of this gene implicated in familial hemophagocytic lymphohistiocytosis 3. Orthologous to human UNC13D (unc-13 homolog D). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Unc13d |
| Official Name | unc-13 homolog D [Source:MGI Symbol;Acc:MGI:1917700] |
| Ensembl ID | ENSMUSG00000057948 |
| Bio databases IDs | |
| Aliases | unc-13 homolog D |
| Synonyms | 2610108D09RIK, FHL3, HLH3, HPLH3, Jinx, mFLJ00067, Munc13-4, UNC13H4, unc-13 homolog D |
| Species | Mouse, Mus musculus |
| 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 mouse Unc13d often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- enzyme binding
- protein binding
- Protein kinase C conserved region 2 (CalB)
- C2 domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- familial hemophagocytic lymphohistiocytosis type 3
- major depression
- systemic lupus erythematosus
- anemia
- asthma
- autoinflammatory disorder
- familial hemophagocytic lymphohistiocytosis
- MOG antibody disease
- lung adenocarcinoma
- lung adenocarcinoma formation
role in cell
- activation
- expression in
- binding in
- release
- degranulation
- aggregation
- phagocytosis by
- trafficking
- exocytosis by
- phosphorylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- plasma membrane fraction
- membrane fraction
- intracellular membrane-bounded organelle
- exocytic vesicle
- azurophil granule lumen
- Extracellular Space
- cellular membrane
- vesicles
- lysosome
- Endoplasmic Reticulum
- cytosol
- azurophil granules
- secretory granules
- clathrin-coated vesicles
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Unc13d gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- germinal center formation
- secretion
- phagocytosis
- defense response to virus
- natural killer cell degranulation
- positive regulation of substrate adhesion-dependent cell spreading
- positive regulation of exocytosis
- granuloma formation
- regulation of mast cell degranulation
Cellular Component
Where in the cell the gene product is active
- exocytic vesicle
- Weibel-Palade body
- intracellular membrane-bounded organelle
- membrane
- late endosome
- cytosol
- recycling endosome
- extracellular region
- azurophil granule lumen
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- small GTPase binding