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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]
SYT2 (Synaptotagmin 2) is a Protein Coding gene. Diseases associated with SYT2 include Myasthenic Syndrome, Congenital, 7, Presynaptic and Presynaptic Congenital Myasthenic Syndromes. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include calcium ion binding and syntaxin binding. An important paralog of this gene is SYT1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH01J202710 | Promoter/Enhancer | 1.4 | EPDnew Ensembl ENCODE | 750.6 | +0.1 | 53 | 1.2 | MAFK SP7 KLF14 GLIS2 ZIC2 PRDM10 ZEB2 POLR2A PATZ1 ZNF692 | SYT2 PCAT6 KDM5B lnc-PPP1R12B-5 | |
GH01J202643 | Promoter/Enhancer | 1.3 | EPDnew Ensembl ENCODE | 750.2 | +67.0 | 67014 | 1.7 | GLIS2 ZIC2 ZBTB8A PATZ1 ZNF692 ZBTB20 EGR1 ZBTB10 ZBTB17 ZFHX2 | lnc-PPP1R12B-5 SYT2 KDM5B IPO9-AS1 | |
GH01J202712 | Enhancer | 0.3 | ENCODE | 750.6 | -1.7 | -1724 | 0.3 | SP1 SCRT2 | SYT2 RF00017-444 | |
GH01J202713 | Enhancer | 0.6 | Ensembl | 0.6 | -2.5 | -2547 | 1.2 | MNT PRDM1 PRDM10 CTBP1 SOX13 DPF2 ZNF217 ELF1 KLF17 FOXA1 | SYT2 RF00017-444 | |
GH01J202719 | Enhancer | 0.9 | Ensembl ENCODE | 0.4 | -9.4 | -9405 | 0.7 | CTCF MIXL1 ZNF362 CC2D1A RAD21 ELF3 PRDM1 IKZF1 ARID2 REST | RF00017-444 KDM5B SYT2 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000149 | SNARE binding | IBA | 21873635 |
GO:0001786 | phosphatidylserine binding | IBA | 21873635 |
GO:0005509 | calcium ion binding | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 19234194 |
GO:0005544 | calcium-dependent phospholipid binding | ISS,IBA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IBA,TAS | -- |
GO:0008021 | synaptic vesicle | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030054 | cell junction | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Uptake and actions of bacterial toxins | ||
2 | Clathrin-mediated endocytosis | ||
3 | HIV Life Cycle |
.45
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4 | Protein-protein interactions at synapses | ||
5 | Vesicle-mediated transport |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007269 | neurotransmitter secretion | IEA | -- |
GO:0014059 | regulation of dopamine secretion | IBA | 21873635 |
GO:0016079 | synaptic vesicle exocytosis | IBA | 21873635 |
GO:0016192 | vesicle-mediated transport | IBA | 21873635 |
GO:0017156 | calcium ion regulated exocytosis | IBA | 21873635 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | SYT2 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | SYT2 33 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Syt2 17 33 32 |
|
||
cow (Bos Taurus) |
Mammalia | SYT2 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Syt2 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | SYT2 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | SYT2 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | SYT2 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | syt2 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | LOC559637 32 |
|
||
SYT2 (1 of 2) 33 |
|
OneToMany | |||
syt2a 33 |
|
OneToMany | |||
Dr.11215 32 |
|
||||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8468 33 |
|
OneToMany |
SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1057518805 | likely-pathogenic, Muscle weakness, Respiratory distress | 202,596,928(-) | GTCATAGTC/GTC | coding_sequence_variant, inframe_deletion | |
rs587777781 | pathogenic, Myasthenic syndrome, congenital, 7, presynaptic, Myasthenic syndrome, congenital, 7, presynaptic (CMS7) [MIM:616040] | 202,599,351(-) | T/G | coding_sequence_variant, missense_variant | |
rs587777782 | pathogenic, Myasthenic syndrome, congenital, 7, presynaptic, Myasthenic syndrome, congenital, 7, presynaptic (CMS7) [MIM:616040] | 202,599,348(-) | G/A | coding_sequence_variant, missense_variant | |
rs199582045 | likely-benign, not provided | 202,605,702(-) | A/G | coding_sequence_variant, missense_variant | |
rs55968420 | likely-benign, not provided | 202,602,978(-) | CCCCCCC/CCCCC/CCCCCC/CCCCCCCC/CCCCCCCCC | intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv560n100 | CNV | gain | 25217958 |
dgv561n100 | CNV | gain | 25217958 |
dgv562n100 | CNV | gain | 25217958 |
esv2545821 | CNV | insertion | 19546169 |
esv2721617 | CNV | deletion | 23290073 |
esv2721628 | CNV | deletion | 23290073 |
esv2721639 | CNV | deletion | 23290073 |
esv2721650 | CNV | deletion | 23290073 |
esv2721661 | CNV | deletion | 23290073 |
esv2721672 | CNV | deletion | 23290073 |
esv2758992 | CNV | loss | 17122850 |
esv2762216 | CNV | loss | 21179565 |
esv3330144 | CNV | duplication | 20981092 |
esv3588584 | CNV | loss | 21293372 |
esv3721 | OTHER | complex | 18987735 |
nsv1014524 | CNV | gain | 25217958 |
nsv1076761 | CNV | insertion | 25765185 |
nsv4099 | CNV | insertion | 18451855 |
nsv7186 | OTHER | inversion | 18451855 |
nsv832337 | CNV | loss | 17160897 |
nsv832348 | CNV | loss | 17160897 |
nsv946585 | CNV | duplication | 23825009 |
nsv946586 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myasthenic syndrome, congenital, 7, presynaptic |
|
|
presynaptic congenital myasthenic syndromes |
|
|
lambert-eaton myasthenic syndrome |
|
|
infant botulism |
|
|
foodborne botulism |
|
|