SYN3
Synapsin-3
Also known as: SYN3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O14994
- Gene
- SYN3
- Ensembl
- ENSG00000185666
- Chromosome
- 22
- Canonical length
- 580 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins
OverviewNCBI Gene
This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008]
Canonical amino-acid sequenceUniProt
580 residues, UniProt reviewed canonical sequence.
>O14994|SYN3
1 MNFLRRRLSD SSFMANLPNG YMTDLQRPDS STSSPASPAM ERRHPQPLAA SFSSPGSSLF
61 SSLSSAMKQA PQATSGLMEP PGPSTPIVQR PRILLVIDDA HTDWSKYFHG KKVNGEIEIR
121 VEQAEFSELN LAAYVTGGCM VDMQVVRNGT KVVSRSFKPD FILVRQHAYS MALGEDYRSL
181 VIGLQYGGLP AVNSLYSVYN FCSKPWVFSQ LIKIFHSLGP EKFPLVEQTF FPNHKPMVTA
241 PHFPVVVKLG HAHAGMGKIK VENQLDFQDI TSVVAMAKTY ATTEAFIDSK YDIRIQKIGS
301 NYKAYMRTSI SGNWKANTGS AMLEQVAMTE RYRLWVDSCS EMFGGLDICA VKAVHSKDGR
361 DYIIEVMDSS MPLIGEHVEE DRQLMADLVV SKMSQLPMPG GTAPSPLRPW APQIKSAKSP
421 GQAQLGPQLG QPQPRPPPQG GPRQAQSPQP QRSGSPSQQR LSPQGQQPLS PQSGSPQQQR
481 SPGSPQLSRA SSGSSPNQAS KPGATLASQP RPPVQGRSTS QQGEESKKPA PPHPHLNKSQ
541 SLTNSLSTSD TSQRGTPSED EAKAETIRNL RKSFASLFSDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SYN3 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)
- 0.47
- Highest tissue expression
- 5 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 5 nTPM
- testis: 3.5 nTPM
- retina: 3.3 nTPM
- amygdala: 2.8 nTPM
- basal ganglia: 2.8 nTPM
- hippocampal formation: 2.4 nTPM
Single-cell type
- retinal ganglion cells: 1,286 nCPM
- cardiomyocytes: 977 nCPM
- thyrotrophs: 769 nCPM
- epicardial cells: 657 nCPM
- brain inhibitory neurons: 558 nCPM
- pericytes: 523 nCPM
Immune cell
- naive B-cell: 3.2 nTPM
- neutrophil: 1.6 nTPM
- basophil: 0.9 nTPM
- classical monocyte: 0.2 nTPM
- eosinophil: 0.1 nTPM
- intermediate monocyte: 0.1 nTPM
Brain region
- cerebral cortex: 173 nTPM
- amygdala: 132 nTPM
- pons: 122 nTPM
- hippocampal formation: 109 nTPM
- white matter: 99 nTPM
- medulla oblongata: 89 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SYN3.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 102 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Global developmental delay
- Cerebellar vermis atrophy
- Generalized hypotonia
- Visual impairment
- Seizure
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)
- 0.59
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.04
- DepMap mean gene effect
- 0.03
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- neurotransmitter secretion
- regulation of synaptic transmission, GABAergic
- synapse organization
- synaptic vesicle clustering
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SYN3 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 SYN3 as an antibody target. Whether an autoantibody or antibody against SYN3 could matter depends on whether native SYN3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SYN3 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 SYN3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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