STXBP2 Gene Summary [Human]
This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]
Details
| Type | Protein Coding |
| Official Symbol | STXBP2 |
| Official Name | syntaxin binding protein 2 [Source:HGNC Symbol;Acc:HGNC:11445] |
| Ensembl ID | ENSG00000076944 |
| Bio databases IDs | |
| Aliases | syntaxin binding protein 2 |
| Synonyms | FHL5, Hunc18b, MUNC18-2, Munc-18b, muSec1, pp10122, Sxtbp2, Sxtp2, syntaxin binding protein 2, UNC18-2, UNC18B, UNC18B2, Unc-18 homolog 2 |
| 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 STXBP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- syntaxin-3 binding
- syntaxin-1 binding
- protein binding
- Sec1 family
- transporter
- syntaxin binding
Pathways
Biological processes and signaling networks where the STXBP2 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
- severe acute respiratory syndrome
- autoinflammatory disorder
- familial hemophagocytic lymphohistiocytosis type 5
- familial hemophagocytic lymphohistiocytosis type 5 with microvillus inclusion disease
- essential thrombocythemia
- familial hemophagocytic lymphohistiocytosis type 5 without microvillus inclusion disease
- familial hemophagocytic lymphohistiocytosis
- rheumatoid arthritis
- hypersensitivity reaction type I
- MOG antibody disease
role in cell
- expression in
- aggregation
- replication in
- degranulation
- activity
- fusion
- exocytosis by
- response by
- formation by
- morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- Extracellular Space
- cellular membrane
- lysosome
- cytosol
- apical membrane
- zymogen granules
- azurophil granules
- specific granules
- secretory granules
- phagosomes
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human STXBP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- vesicle-mediated transport
- vesicle docking involved in exocytosis
- neutrophil degranulation
- intracellular protein transport
- neurotransmitter secretion
- leukocyte mediated cytotoxicity
- regulation of mast cell degranulation
Cellular Component
Where in the cell the gene product is active
- cytolytic granule
- extracellular vesicular exosome
- specific granule
- secretory granule
- azurophil granule
- tertiary granule
- cytosol
- extracellular region
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- syntaxin-3 binding
- protein binding
- syntaxin-1 binding