SYT2
Synaptotagmin-2
Also known as: SYT2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8N9I0
- Gene
- SYT2
- Ensembl
- ENSG00000143858
- Chromosome
- 1
- Canonical length
- 419 aa
- Protein class
- Disease related genes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Canonical amino-acid sequenceUniProt
419 residues, UniProt reviewed canonical sequence.
>Q8N9I0|SYT2
1 MRNIFKRNQE PIVAPATTTA TMPIGPVDNS TESGGAGESQ EDMFAKLKEK LFNEINKIPL
61 PPWALIAIAV VAGLLLLTCC FCICKKCCCK KKKNKKEKGK GMKNAMNMKD MKGGQDDDDA
121 ETGLTEGEGE GEEEKEPENL GKLQFSLDYD FQANQLTVGV LQAAELPALD MGGTSDPYVK
181 VFLLPDKKKK YETKVHRKTL NPAFNETFTF KVPYQELGGK TLVMAIYDFD RFSKHDIIGE
241 VKVPMNTVDL GQPIEEWRDL QGGEKEEPEK LGDICTSLRY VPTAGKLTVC ILEAKNLKKM
301 DVGGLSDPYV KIHLMQNGKR LKKKKTTVKK KTLNPYFNES FSFEIPFEQI QKVQVVVTVL
361 DYDKLGKNEA IGKIFVGSNA TGTELRHWSD MLANPRRPIA QWHSLKPEEE VDALLGKNKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SYT2 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
- 1
- Mean surface accessibility (rSASA)
- 0.4
- Highest tissue expression
- 39 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 39 nTPM
- basal ganglia: 5.1 nTPM
- cerebral cortex: 4.8 nTPM
- retina: 4.8 nTPM
- midbrain: 3.2 nTPM
- spinal cord: 1.9 nTPM
Single-cell type
- cardiomyocytes: 193 nCPM
- retinal ganglion cells: 100 nCPM
- adipocytes: 74 nCPM
- myonuclei: 68 nCPM
- salivary myoepithelial cells: 60 nCPM
- oocytes: 55 nCPM
Immune cell
- neutrophil: 0.3 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- cerebral cortex: 166 nTPM
- pons: 152 nTPM
- medulla oblongata: 116 nTPM
- cerebellum: 105 nTPM
- thalamus: 56 nTPM
- white matter: 52 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SYT2.
Disease | AllUniProt
Conditions SYT2 is implicated in, by any mechanism.
- Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant (CMS7A) MIM:616040
- Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive (CMS7B) MIM:619461
Disease | GeneticClinVar
18 pathogenic / likely-pathogenic of 340 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Congenital myasthenic syndrome 7
- Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
- Muscle weakness
- Respiratory distress
- SYT2-related disorder
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)
- 0.29
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 1.98
- DepMap mean gene effect
- -0.17
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- calcium-dependent activation of synaptic vesicle fusion
- cell differentiation
- positive regulation of dendrite extension
- regulation of calcium ion-dependent exocytosis
- regulation of synaptic vesicle exocytosis
- vesicle-mediated transport
Molecular functions
- calcium ion sensor activity
- calcium-dependent phospholipid binding
- inositol 1,3,4,5 tetrakisphosphate binding
- metal ion binding
- SNARE binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SYT2 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 SYT2 as an antibody target. Whether an autoantibody or antibody against SYT2 could matter depends on whether native SYT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SYT2 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 SYT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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