Gene Gene information from NCBI Gene database.
Entrez ID 9900
Gene name Synaptic vesicle glycoprotein 2A
Gene symbol SV2A
Synonyms (NCBI Gene)
DEE113SLC22B1SV2
Chromosome 1
Chromosome location 1q21.2
Summary 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.
239
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 assayqRT-PCR 32839459
MIRT1404450 hsa-miR-1185 CLIP-seq
MIRT1404451 hsa-miR-1207-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
GO:0005911 Component Cell-cell junction IEA
GO:0006836 Process Neurotransmitter transport IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
185860 20566 ENSG00000159164
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental and epileptic encephalopathy 113 Likely pathogenic rs782707236 RCV003988101
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSY Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SV2A-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alzheimer Disease Associate 33588752, 39900278, 40640137
★☆☆☆☆
Found in Text Mining only
Anxiety Associate 32839459
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Associate 32839459
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Associate 20167814
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 23244111, 26339411
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 19134008
★☆☆☆☆
Found in Text Mining only
Cerebral Palsy Associate 23976945
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Associate 25012223
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Inhibit 29084019
★☆☆☆☆
Found in Text Mining only
Corneal Dystrophy Fleck Associate 19220410
★☆☆☆☆
Found in Text Mining only