SV2A Gene Summary [Human]
The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016]
Details
| Type | Protein Coding |
| Official Symbol | SV2A |
| Official Name | synaptic vesicle glycoprotein 2A [Source:HGNC Symbol;Acc:HGNC:20566] |
| Ensembl ID | ENSG00000159164 |
| Bio databases IDs | |
| Aliases | synaptic vesicle glycoprotein 2A |
| Synonyms | DEE113, mKIAA0736, SLC22B1, SV2, synaptic vesicle glycoprotein 2A, Synaptic Vesicle Protein 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 SV2A 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 binding
- Sugar (and other) transporter
- Major Facilitator Superfamily
- tyrosine internalization motif
- protein binding
- Pentapeptide repeats (9 copies)
- synaptic vesicle protein SV2
- cation transport protein
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neuropathic pain
- epilepsy
- idiopathic generalized epilepsy
- seizures
- generalized epilepsy
- Unverricht-Lundborg syndrome
- developmental and epileptic encephalopathy type 113
- prodromal Alzheimers disease
- coma
- localization-related epilepsy
role in cell
- function
- synaptic transmission
- binding in
- expression in
- exocytosis
- density
- clustering in
- homeostasis in
- priming
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
- synaptic vesicle membrane
- glutaminergic synapse
- cell surface
- membrane surface
- Plasma Membrane
- Endoplasmic Reticulum
- intercellular junctions
- synaptic membrane
- dendritic spines
- synaptic vesicles
- neuromuscular junctions
- growth cone
- neurites
- synapse
- perikaryon
- dendrites
- clathrin-coated vesicles
- synaptic vesicle fractions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SV2A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transmembrane transport
- synaptic vesicle priming
- regulation of gamma-aminobutyric acid secretion
- cellular calcium ion homeostasis
Cellular Component
Where in the cell the gene product is active
- dendrite
- cell-cell junction
- presynaptic active zone
- synaptic vesicle
- neuromuscular junction
- endoplasmic reticulum
- neuronal cell body
- synaptic vesicle membrane
- neuron projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- transmembrane transporter activity