SNCB (Beta-Synuclein) Gene
A member of the synuclein family implicated in neurodegenerative diseases and cancer
Gene Information Card
| Symbol | SNCB |
|---|---|
| Full Name | Synuclein Beta |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.2 |
| NCBI Gene ID | 6620 ncbi.nlm.nih.gov/gene/6620 |
| Ensembl ID | ENSG00000171862 |
| UniProt ID | Q16143 |
| OMIM ID | 602569 |
| HGNC ID | 11139 |
| Aliases | beta-synuclein, BSNC, NACP |
Description
The SNCB gene encodes beta-synuclein, a member of the synuclein family predominantly expressed in the brain. Beta-synuclein is thought to inhibit alpha-synuclein aggregation and may play a neuroprotective role. Mutations and altered expression of SNCB have been associated with neurodegenerative disorders such as Parkinson disease and dementia with Lewy bodies, as well as certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson disease | Missense mutations (e.g., p.Val70Met) may alter protein conformation and aggregation propensity, potentially contributing to Lewy body pathology. | ClinVar, OMIM |
| Dementia with Lewy bodies | Reduced expression or loss of beta-synuclein may fail to inhibit alpha-synuclein aggregation, promoting Lewy body formation. | NCBI, OMIM |
| Breast cancer | Altered SNCB expression levels have been observed in tumor tissues; beta-synuclein may influence cell proliferation and migration. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 30.2 | High |
| Brain (cerebellum) | 25.8 | High |
| Brain (hippocampus) | 28.1 | High |
| Testis | 1.5 | Low |
| Heart | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.3 | High expression; used in neurodegeneration studies |
| U-87 MG (glioblastoma) | 12.7 | Moderate expression |
| MCF7 (breast cancer) | 3.2 | Low expression |
| HEK293 (embryonic kidney) | 1.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Val70Met (c.208G>A) | Missense | Rare (0.01% in gnomAD) | Associated with Parkinson disease; may increase aggregation propensity |
| p.Pro123His (c.368C>A) | Missense | Rare | Reported in dementia with Lewy bodies; functional impact unclear |
| p.Ala30Pro (c.88G>C) | Missense | Not reported in population databases | In vitro studies suggest reduced ability to inhibit alpha-synuclein aggregation |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., truncations or deletions) are not well-characterized for SNCB; reduced expression may contribute to disease by failing to inhibit alpha-synuclein aggregation.
Gain of Function (GOF)
Gain-of-function mutations have not been clearly established for SNCB; missense variants may alter protein interactions but evidence is limited.
Dominant Negative (DN)
Dominant-negative effects have not been reported for SNCB mutations; the protein is thought to act as a monomeric inhibitor of alpha-synuclein aggregation.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0042802 (identical protein binding) |
| • GO:0045202 (synapse) | • GO:0030424 (axon) |
| • GO:0043025 (neuronal cell body) | • GO:0005737 (cytoplasm) |
| • GO:0031982 (vesicle) | • GO:0005634 (nucleus) |
Pathways
• Synuclein pathway (Reactome: R-HSA-9623433)
• Parkinson disease pathway (KEGG: hsa05012)
• Alzheimer disease pathway (KEGG: hsa05010)
Protein Summary
Beta-synuclein is a 134-amino acid protein (UniProt Q16143) predominantly expressed in the brain. It shares ~60% sequence identity with alpha-synuclein but lacks the hydrophobic non-amyloid component (NAC) region responsible for aggregation. Beta-synuclein is localized to presynaptic terminals and may regulate synaptic vesicle dynamics. It is known to inhibit alpha-synuclein aggregation and fibril formation, suggesting a neuroprotective role. Post-translational modifications include phosphorylation at Ser118 and Ser129, which may modulate its function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNCB Knockout HAP1 Cell Line | EDC08055 | Human | 6620 | Details Get a Quote |
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