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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]
SV2A (Synaptic Vesicle Glycoprotein 2A) is a Protein Coding gene. Diseases associated with SV2A include Carbamazepine Allergy and Foodborne Botulism. Among its related pathways are Neuroscience and Toxicity of botulinum toxin type F (BoNT/F). Gene Ontology (GO) annotations related to this gene include protein kinase binding and transporter activity. An important paralog of this gene is SV2C.
Once proteins are translated, they must be directed to the appropriate localization within, or outside of the cell. Protein translocation occurs either during translation or after translation and depends on the N'-terminal signal-recognition particle (SRP) interacting with its receptor.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0019901 | protein kinase binding | ISS | -- |
GO:0022857 | transmembrane transporter activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005783 | endoplasmic reticulum | IDA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005911 | cell-cell junction | IEA | -- |
GO:0008021 | synaptic vesicle | TAS | 15217342 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Uptake and actions of bacterial toxins | ||
2 | HIV Life Cycle |
.45
|
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3 | Toxicity of botulinum toxin type F (BoNT/F) | ||
4 | Neuroscience | ||
5 | ECM-receptor interaction |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006836 | neurotransmitter transport | IEA | -- |
GO:0006874 | cellular calcium ion homeostasis | IEA | -- |
GO:0007268 | chemical synaptic transmission | IEA | -- |
GO:0014052 | regulation of gamma-aminobutyric acid secretion | IEA | -- |
GO:0016082 | synaptic vesicle priming | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Levetiracetam | Approved | Pharma | Target, agonist, blocker | 229 | ||
Brivaracetam | Approved, Investigational | Pharma | Target, unknown, inhibitor | 39 | ||
Brefeldin A | Experimental | Pharma | Disrupts protein translocation to Golgi | 0 | ||
Seletracetam | Investigational | Pharma | Target, modulator, binder | 0 | ||
Calcium | Nutra | 6556 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Exo1 |
|
461681-88-9 |
|
|
||
leptomycin b |
|
87081-35-4 |
|
|
Compound | Action | Cas Number |
---|---|---|
Brefeldin A | Disrupts protein translocation to Golgi | 20350-15-6 |
DBeQ | Selective and reversible p97 ATPase inhibitor | 177355-84-9 |
Exo1 | Inhibits Golgi-ER traffic; blocks exocytosis | 461681-88-9 |
Leptomycin B | Inhibits nuclear export of proteins; antitumor | 87081-35-4 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||
SP5: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SV2A 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SV2A 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SV2A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SV2A 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sv2a 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Sv2a 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SV2A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SV2A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sv2a 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | SV2A 31 |
|
OneToOne | |
LOC568033 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3168 31 |
|
ManyToMany | |
CG31106 31 |
|
ManyToMany | |||
CG31272 31 |
|
ManyToMany | |||
CG3690 31 |
|
ManyToMany | |||
CG31103 31 |
|
ManyToMany | |||
CG15221 31 |
|
ManyToMany | |||
CG14691 31 |
|
ManyToMany | |||
CG33234 31 |
|
ManyToMany | |||
CG12783 31 |
|
ManyToMany | |||
CG33233 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711773 | Likely Benign: not provided | 149,913,277(-) | G/A | SYNONYMOUS_VARIANT | |
718000 | Benign: not provided | 149,910,576(-) | G/A | SYNONYMOUS_VARIANT | |
720861 | Likely Benign: not provided | 149,913,635(-) | TCTC/T | INFRAME_DELETION | |
722332 | Likely Benign: not provided | 149,905,984(-) | A/G | SYNONYMOUS_VARIANT | |
733214 | Likely Benign: not provided | 149,905,095(-) | G/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
carbamazepine allergy |
|
|
foodborne botulism |
|
|
reflex epilepsy |
|
|
photosensitive epilepsy |
|
|
intestinal botulism |
|
|