Identity
HGNC
LOCATION
1q32.1
LOCUSID
ALIAS
CMS7,MYSPC,SytII
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 127833
MIM: 600104
HGNC: 11510
Ensembl: ENSG00000143858
Variants:
dbSNP: 127833
ClinVar: 127833
TCGA: ENSG00000143858
COSMIC: SYT2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000143858 | ENST00000367267 | Q8N9I0 |
| ENSG00000143858 | ENST00000367267 | A0A024R9B3 |
| ENSG00000143858 | ENST00000367268 | Q8N9I0 |
| ENSG00000143858 | ENST00000367268 | A0A024R9B3 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32250532 | 2020 | Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence. | 7 |
| 32776697 | 2020 | Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. | 8 |
| 33105646 | 2020 | Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy. | 3 |
| 32250532 | 2020 | Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence. | 7 |
| 32776697 | 2020 | Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. | 8 |
| 33105646 | 2020 | Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy. | 3 |
| 27065097 | 2016 | Control of plasma membrane lipid homeostasis by the extended synaptotagmins. | 121 |
| 27065097 | 2016 | Control of plasma membrane lipid homeostasis by the extended synaptotagmins. | 121 |
| 26519543 | 2015 | Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome. | 30 |
| 26519543 | 2015 | Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome. | 30 |
| 25192047 | 2014 | Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. | 53 |
| 25192047 | 2014 | Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. | 53 |
| 22265973 | 2012 | Human synaptotagmin-II is not a high affinity receptor for botulinum neurotoxin B and G: increased therapeutic dosage and immunogenicity. | 39 |
| 22454523 | 2012 | Botulinum 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. | 53 |
| 22265973 | 2012 | Human synaptotagmin-II is not a high affinity receptor for botulinum neurotoxin B and G: increased therapeutic dosage and immunogenicity. | 39 |
Citation
Dessen P
SYT2 (synaptotagmin 2)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56525/syt2-(synaptotagmin-2)
