Gene: SV2B

Alternate names for this Gene: HsT19680

Gene 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 trafficking and exocytosis. Studies in mice suggest that the encoded protein may act as a protein receptor for botulinum neurotoxin E in neurons, and that this protein may be important for the integrity of the glomerular filtration barrier. This gene shows reduced expression in areas of synaptic loss in the hippocampus of human temporal lobe epilepsy patients.

Gene is located in Chromosome: 15

Location in Chromosome : 15q26.1

Description of this Gene: synaptic vesicle glycoprotein 2B

Type of Gene: protein-coding

rs11856372 in SV2B gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs886144 in SV2B gene and Serum albumin measurement PMID 19043545 2008 Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.