Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9900
Gene name Gene Name - the full gene name approved by the HGNC.
Synaptic vesicle glycoprotein 2A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SV2A
Synonyms (NCBI Gene) Gene synonyms aliases
DEE113, SLC22B1, SV2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DEE113
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT049496 hsa-miR-92a-3p CLASH 23622248
MIRT046699 hsa-miR-222-3p CLASH 23622248
MIRT733630 hsa-miR-218-5p Luciferase reporter assay, qRT-PCR 32839459
MIRT1404450 hsa-miR-1185 CLIP-seq
MIRT1404451 hsa-miR-1207-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005886 Component Plasma membrane TAS
GO:0005911 Component Cell-cell junction IEA
GO:0006874 Process Cellular calcium ion homeostasis IEA
GO:0008021 Component Synaptic vesicle TAS 15217342
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
185860 20566 ENSG00000159164
Protein
UniProt ID Q7L0J3
Protein name Synaptic vesicle glycoprotein 2A
Protein function Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles (By sim
PDB 4V11 , 8JLC , 8JLE , 8JLF , 8JLG , 8JLH , 8JLI , 8JS8 , 8JS9 , 8K77 , 8UO9 , 8UOA , 8YF0 , 8YF1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00083 Sugar_tr 148 484 Sugar (and other) transporter Family
PF07690 MFS_1 555 739 Major Facilitator Superfamily Family
Sequence
Sequence length 742
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  ECM-receptor interaction   Toxicity of botulinum toxin type D (BoNT/D)
Toxicity of botulinum toxin type A (BoNT/A)
Toxicity of botulinum toxin type F (BoNT/F)
Toxicity of botulinum toxin type E (BoNT/E)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
23017826
Unknown
Disease term Disease name Evidence References Source
Epileptic encephalopathy developmental and epileptic encephalopathy 113 GenCC
Epilepsy epilepsy GenCC
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 33588752, 39900278, 40640137
Anxiety Associate 32839459
Anxiety Disorders Associate 32839459
Brain Neoplasms Associate 20167814
Breast Neoplasms Associate 23244111, 26339411
Carcinoma Hepatocellular Associate 19134008
Cerebral Palsy Associate 23976945
Cognition Disorders Associate 25012223
Colorectal Neoplasms Inhibit 29084019
Corneal Dystrophy Fleck Associate 19220410