SYT2 Gene Summary [Human]
This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Details
| Type | Protein Coding |
| Official Symbol | SYT2 |
| Official Name | synaptotagmin 2 [Source:HGNC Symbol;Acc:HGNC:11510] |
| Ensembl ID | ENSG00000143858 |
| Bio databases IDs | |
| Aliases | synaptotagmin 2 |
| Synonyms | CMS7, CMS7A, CMS7B, IP4BP, LOC100127887, mKIAA4194, MYSPC, R74640, RATSYNII, SYNAPTOTAGMIN 2, Synaptotagmin II, SYNII, SytII |
| 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 SYT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phospholipid binding
- botulinum neurotoxin-B binding domain
- N-terminal domain of synaptotagmin-1 and -2
- oligomerization domain
- calcium ion binding
- calcium-dependent phospholipid binding
- protein binding
- phospholipid binding domain
- syntaxin binding
- binding protein
- cytoplasmic domain
- lumenal domain
- transmembrane domain
- Protein kinase C conserved region 2 (CalB)
- transporter
- C2 domain
Pathways
Biological processes and signaling networks where the SYT2 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
- epilepsy
- schizophrenia
- acute myeloid leukemia
- presynaptic congenital myasthenic syndrome type 7
- Huntington disease
- autosomal recessive presynaptic congenital myasthenic syndrome type 7B
- intoxication
- lung adenocarcinoma
- lung adenocarcinoma formation
- passive cutaneous anaphylaxis
role in cell
- morphology
- extension
- transport
- exocytosis in
- development
- exocytosis
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
- lysosome fractions
- synaptic vesicle membrane
- endocytic vesicle membrane
- cell surface
- cell borders
- cell periphery
- cellular membrane
- cell cortex
- Plasma Membrane
- vesicles
- cytosol
- synaptic vesicles
- neuromuscular junctions
- neurites
- synaptosomes
- synaptic-like microvesicles
- secretory granules
- perikaryon
- axons
- chromaffin vesicles
- clathrin-coated vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SYT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- calcium ion-dependent exocytosis of neurotransmitter
- synaptic vesicle endocytosis
- cell differentiation
Cellular Component
Where in the cell the gene product is active
- exocytic vesicle
- clathrin-coated endocytic vesicle membrane
- chromaffin granule membrane
- dense core granule
- synaptic vesicle membrane
- axon
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- phosphatidylserine binding
- protein binding
- calcium ion binding
- clathrin binding
- SNARE binding
- inositol 1,3,4,5 tetrakisphosphate binding
- calcium-dependent phospholipid binding