SYT2 (synaptotagmin 2)

2016-10-01  

Identity

HGNC
LOCATION
1q32.1
LOCUSID
ALIAS
CMS7,MYSPC,SytII
FUSION GENES

Other Information

Locus ID:

NCBI: 127833
MIM: 600104
HGNC: 11510
Ensembl: ENSG00000143858

Variants:

dbSNP: 127833
ClinVar: 127833
TCGA: ENSG00000143858
COSMIC: SYT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143858ENST00000367267Q8N9I0
ENSG00000143858ENST00000367267A0A024R9B3
ENSG00000143858ENST00000367268Q8N9I0
ENSG00000143858ENST00000367268A0A024R9B3

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
Uptake and actions of bacterial toxinsREACTOMER-HSA-5339562
Neurotoxicity of clostridium toxinsREACTOMER-HSA-168799
Toxicity of botulinum toxin type B (BoNT/B)REACTOMER-HSA-5250958
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
197096302009Synaptotagmin has an essential function in synaptic vesicle positioning for synchronous release in addition to its role as a calcium sensor.63
270650972016Control of plasma membrane lipid homeostasis by the extended synaptotagmins.59
147095542004Synaptotagmin interaction with the syntaxin/SNAP-25 dimer is mediated by an evolutionarily conserved motif and is sensitive to inositol hexakisphosphate.49
224545232012Botulinum neurotoxin D-C uses synaptotagmin I and II as receptors, and human synaptotagmin II is not an effective receptor for type B, D-C and G toxins.36
251920472014Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.33
153502182004WNK1 phosphorylates synaptotagmin 2 and modulates its membrane binding.27
222659732012Human synaptotagmin-II is not a high affinity receptor for botulinum neurotoxin B and G: increased therapeutic dosage and immunogenicity.25
265195432015Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.16
120631792002Synaptotagmin II could confer Ca(2+) sensitivity to phagocytosis in human neutrophils.4
186395192008Dominant antigenic peptides located at the heavy chain terminal of botulinum neurotoxin B contain receptor-binding sites for synaptotagmin II.1

Citation

Dessen P

SYT2 (synaptotagmin 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56525/syt2