SNCB
Beta-synuclein
Also known as: SYUB_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q16143
- Gene
- SNCB
- Ensembl
- ENSG00000074317
- Chromosome
- 5
- Canonical length
- 134 aa
- Protein class
- Human disease related genes, Predicted intracellular proteins, Transporters
OverviewNCBI Gene
This gene encodes a member of a small family of proteins that inhibit phospholipase D2 and may function in neuronal plasticity. The encoded protein is abundant in lesions of patients with Alzheimer disease. A mutation in this gene was found in individuals with dementia with Lewy bodies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Canonical amino-acid sequenceUniProt
134 residues, UniProt reviewed canonical sequence.
>Q16143|SNCB
1 MDVFMKGLSM AKEGVVAAAE KTKQGVTEAA EKTKEGVLYV GSKTREGVVQ GVASVAEKTK
61 EQASHLGGAV FSGAGNIAAA TGLVKREEFP TDLKPEEVAQ EAAEEPLIEP LMEPEGESYE
121 DPPQEEYQEY EPEALocalizationUniProt · AlphaFold · HPA
Whether an antibody against SNCB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.59
- Highest tissue expression
- 563 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 563 nTPM
- cerebellum: 411 nTPM
- amygdala: 333 nTPM
- hippocampal formation: 241 nTPM
- hypothalamus: 188 nTPM
- retina: 169 nTPM
Single-cell type
- brain excitatory neurons: 72 nCPM
- retinal bipolar cells: 70 nCPM
- retinal amacrine cells: 65 nCPM
- brain inhibitory neurons: 60 nCPM
- rod photoreceptor cells: 51 nCPM
- oocytes: 51 nCPM
Immune cell
- naive B-cell: 0.6 nTPM
- memory B-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- cerebral cortex: 1,093 nTPM
- white matter: 663 nTPM
- pons: 389 nTPM
- basal ganglia: 385 nTPM
- cerebellum: 319 nTPM
- thalamus: 303 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SNCB.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 24 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.98
- gnomAD pLI
- 0.07
- gnomAD missense Z
- 0.95
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chemical synaptic transmission
- dopamine metabolic process
- negative regulation of neuron apoptotic process
- neuron apoptotic process
- synapse organization
- synaptic vesicle endocytosis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SNCB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SNCB as an antibody target. Whether an autoantibody or antibody against SNCB could matter depends on whether native SNCB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SNCB is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SNCB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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