STXBP6 Gene Summary [Human]
Enables cadherin binding activity involved in cell-cell adhesion. Predicted to be involved in Golgi to plasma membrane transport and exocytosis. Located in adherens junction. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | STXBP6 |
| Official Name | syntaxin binding protein 6 [Source:HGNC Symbol;Acc:HGNC:19666] |
| Ensembl ID | ENSG00000168952 |
| Bio databases IDs | |
| Aliases | syntaxin binding protein 6 |
| Synonyms | AMISYN, C85317, HSPC156, syntaxin binding protein 6, syntaxin binding protein 6 (amisyn) |
| 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 STXBP6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- coiled-coil domain
- Pleckstrin homology-like domain
- SNARE motif
- Exocyst complex component SEC3 N-terminal PIP2 binding PH
Pathways
Biological processes and signaling networks where the STXBP6 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
- cataract
- uterine leiomyoma
- leiomyomatosis
- idiopathic pulmonary fibrosis
- systemic lupus erythematosus
- adenomyosis
- ocular sarcoidosis
- gastroesophageal reflux
- colon cancer
- chronic periodontal disease
regulates
- catecholamine
- GH1
- norepinephrine
- SNARE
role in cell
- exocytosis by
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
- membrane fraction
- cellular membrane
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human STXBP6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of SNARE complex assembly
- SNARE complex assembly
- negative regulation of exocytosis
Cellular Component
Where in the cell the gene product is active
- adherens junction
- cytoplasm
- membrane