Gene Gene information from NCBI Gene database.
Entrez ID 9899
Gene name Synaptic vesicle glycoprotein 2B
Gene symbol SV2B
Synonyms (NCBI Gene)
HsT19680SLC22B2
Chromosome 15
Chromosome location 15q26.1
Summary This gene encodes a member of the synaptic vesicle proteins 2 (SV2) family and major facilitator superfamily of proteins. This protein and other members of the family are localized to synaptic vesicles and may function in the regulation of vesicle traffic
miRNA miRNA information provided by mirtarbase database.
537
miRTarBase ID miRNA Experiments Reference
MIRT030144 hsa-miR-26b-5p Microarray 19088304
MIRT713239 hsa-miR-211-3p HITS-CLIP 19536157
MIRT713238 hsa-miR-4270 HITS-CLIP 19536157
MIRT713237 hsa-miR-4441 HITS-CLIP 19536157
MIRT713236 hsa-miR-6754-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0001669 Component Acrosomal vesicle IEA
GO:0005515 Function Protein binding IPI 25416956
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
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
185861 16874 ENSG00000185518
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7L1I2
Protein name Synaptic vesicle glycoprotein 2B
Protein function Probably plays a role in the control of regulated secretion in neural and endocrine cells. ; (Microbial infection) Receptor for the C.botulinum neurotoxin type A2 (BoNT/A, botA); glycosylation is not essential but enhance
PDB 8UO8 , 9F1R , 9F2B , 9F2J , 9F2Y , 9F3C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00083 Sugar_tr 97 416 Sugar (and other) transporter Family
PF07690 MFS_1 519 681 Major Facilitator Superfamily Family
Sequence
Sequence length 683
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.).
7
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)
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
BRAIN ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 24123676
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 27641902 Inhibit
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 33588752 Associate
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 40596133 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 31200767 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy BEFREE 18977120
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 33588752 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 32667033, 40596133 Associate
★☆☆☆☆
Found in Text Mining only
Huntington Disease Huntington Disease BEFREE 29713895
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Kidney Disease BEFREE 16943307
★★☆☆☆
Found in Text Mining + Unknown/Other Associations