SV2C Gene Summary [Human]

Predicted to enable transmembrane transporter activity. Predicted to be involved in chemical synaptic transmission; neurotransmitter transport; and transmembrane transport. Predicted to be located in plasma membrane and synaptic vesicle. Predicted to be active in neuron projection and synaptic vesicle membrane. Predicted to be integral component of synaptic vesicle membrane. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Protein Coding
Official Symbol
SV2C
Official Name
synaptic vesicle glycoprotein 2C [Source:HGNC Symbol;Acc:HGNC:30670]
Ensembl ID
ENSG00000122012
Bio databases IDs NCBI: 22987 Ensembl: ENSG00000122012
Aliases synaptic vesicle glycoprotein 2C
Synonyms 4930527L09Rik, AI841971, SLC22B3, synaptic vesicle glycoprotein 2C
Species
Human, Homo sapiens
OrthologiesMouseRat

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 SV2C often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • benzoate transport
  • lumenal domain
  • Multidrug resistance protein
  • Major Facilitator Superfamily
  • 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
  • epileptic seizure
  • Parkinson disease
  • migraines
  • mood disorder
  • venous thromboembolism
  • wheeze
  • COVID-19
regulated by
regulates
role in cell
  • 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.
  • Plasma Membrane
  • synaptic vesicle membrane
  • cell surface
  • cytosol
  • synaptic vesicles
  • neuromuscular junctions
  • synapse
  • smooth microsomes
  • cellular protrusions

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SV2C gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • neurotransmitter transport
  • transmembrane transport
  • regulation of synaptic vesicle exocytosis
  • synaptic transmission

Cellular Component

Where in the cell the gene product is active
  • synaptic vesicle
  • synaptic vesicle membrane
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • transmembrane transporter activity

Gene-Specific Assays for Results You Can Trust

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