SV2B: Synaptic Vesicle Glycoprotein 2B
A key regulator of synaptic vesicle exocytosis and neurotransmitter release
Gene Information Card
| Symbol | SV2B |
|---|---|
| Full Name | synaptic vesicle glycoprotein 2B |
| Gene Type | protein-coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 9899 ncbi.nlm.nih.gov/gene/9899 |
| Ensembl ID | ENSG00000185518 |
| UniProt ID | Q7L1I2 |
| OMIM ID | 185861 |
| HGNC ID | 11474 |
| Aliases | KIAA0735, SV2, SV2B |
Description
The SV2B gene encodes synaptic vesicle glycoprotein 2B, a transmembrane protein localized to synaptic vesicles. It is involved in the regulation of calcium-dependent exocytosis and neurotransmitter release. SV2B is a member of the major facilitator superfamily and is essential for normal synaptic function. It is widely expressed in the brain and also in other tissues such as the retina and endocrine glands.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, familial temporal lobe | Altered SV2B expression may impair synaptic vesicle recycling and neurotransmitter release, contributing to seizure susceptibility. | ClinVar: Variants of uncertain significance reported in epilepsy patients. |
| Neurodevelopmental disorders | SV2B mutations may disrupt synaptic transmission, leading to cognitive and behavioral phenotypes. | OMIM: 185861 - associated with epilepsy and neurodevelopmental phenotypes. |
| Cancer (pancreatic, breast) | SV2B overexpression or mutation may influence tumor cell proliferation and invasion. | COSMIC: Somatic mutations and copy number alterations observed in multiple cancer types. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Retina | 8.3 | Medium |
| Pancreas | 4.1 | Low |
| Testis | 3.2 | Low |
| Heart | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model, high expression |
| U-87 MG (glioblastoma) | 9.8 | Glial tumor, moderate expression |
| MCF7 (breast cancer) | 2.1 | Low expression |
| HeLa (cervical cancer) | 1.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.01% | Uncertain significance; may alter protein stability |
| c.567delG (p.Glu189fs) | Frameshift | 0.001% | Loss of function; predicted to cause nonsense-mediated decay |
| c.890A>G (p.Asn297Ser) | Missense | 0.005% | Likely benign; no functional impact reported |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or trigger nonsense-mediated decay are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SV2B.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for SV2B.
View complete mutation data：
Gene Ontology (GO)
| • synaptic vesicle (GO:0008021) | • transport (GO:0006810) |
| • calcium-ion regulated exocytosis (GO:0017156) | • synapse (GO:0045202) |
| • plasma membrane (GO:0005886) |
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-421837)
• Neurotransmitter release cycle (Reactome: R-HSA-112310)
Protein Summary
SV2B is a 12-pass transmembrane glycoprotein of 603 amino acids, belonging to the major facilitator superfamily. It is localized to synaptic vesicles and is essential for normal calcium-dependent exocytosis. The protein contains a large luminal domain and multiple transmembrane helices. SV2B interacts with synaptotagmin and other vesicle proteins to regulate neurotransmitter release. It is expressed predominantly in the brain, retina, and endocrine tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SV2B Knockout HEK293 Cell Line | EDJ-KQ2938 | Human | 9899 | Details Get a Quote |
| SV2B Knockout HeLa Cell Line | EDJ-KQ24055 | Human | 9899 | Details Get a Quote |
| SV2B Knockout A-549 Cell Line | EDJ-KQ63755 | Human | 9899 | Details Get a Quote |
| SV2B Knockout HCT 116 Cell Line | EDJ-KQ72215 | Human | 9899 | Details Get a Quote |
