Human Gene SYT2 (ENST00000367268.5_7) from GENCODE V47lift37
  Description: synaptotagmin 2, transcript variant 1 (from RefSeq NM_177402.5)
Gencode Transcript: ENST00000367268.5_7
Gencode Gene: ENSG00000143858.12_9
Transcript (Including UTRs)
   Position: hg19 chr1:202,559,724-202,679,582 Size: 119,859 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr1:202,565,885-202,574,900 Size: 9,016 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:202,559,724-202,679,582)mRNA (may differ from genome)Protein (419 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SYT2_HUMAN
DESCRIPTION: RecName: Full=Synaptotagmin-2; AltName: Full=Synaptotagmin II; Short=SytII;
FUNCTION: May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse. It binds acidic phospholipids with a specificity that requires the presence of both an acidic head group and a diacyl backbone (By similarity).
COFACTOR: Binds 3 calcium ions per subunit. The ions are bound to the C2 domains (By similarity).
SUBUNIT: Homotetramer (Probable). Interacts with stonin 2 (By similarity). Interacts with SCAMP5.
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Single-pass membrane protein (By similarity). Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane; Single-pass membrane protein (By similarity). Note=Synaptic vesicles and chromaffin granules (By similarity).
DOMAIN: The first C2 domain mediates Ca(2+)-dependent phospholipid binding (By similarity).
DOMAIN: The second C2 domain mediates interaction with Stonin 2 (By similarity).
SIMILARITY: Belongs to the synaptotagmin family.
SIMILARITY: Contains 2 C2 domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SYT2
Diseases sorted by gene-association score: myasthenic syndrome, congenital, 7, presynaptic* (1230), syt2-related congenital myasthenic syndrome* (500), presynaptic congenital myasthenic syndromes* (202), lambert-eaton myasthenic syndrome (24), foodborne botulism (19), infant botulism (19), episodic ataxia, type 2 (6), congenital myasthenic syndrome (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.40 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 51.35 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -86.00214-0.402 Picture PostScript Text
3' UTR -2255.406161-0.366 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000008 - C2_Ca-dep
IPR008973 - C2_Ca/lipid-bd_dom_CaLB
IPR020477 - C2_dom
IPR018029 - C2_membr_targeting
IPR001565 - Synaptotagmin

Pfam Domains:
PF00168 - C2 domain

SCOP Domains:
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)

ModBase Predicted Comparative 3D Structure on Q8N9I0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005544 calcium-dependent phospholipid binding
GO:0019905 syntaxin binding
GO:0030276 clathrin binding
GO:0043533 inositol 1,3,4,5 tetrakisphosphate binding
GO:0046872 metal ion binding

Biological Process:
GO:0006906 vesicle fusion
GO:0007269 neurotransmitter secretion
GO:0017158 regulation of calcium ion-dependent exocytosis
GO:0030154 cell differentiation
GO:0048488 synaptic vesicle endocytosis
GO:0048791 calcium ion-regulated exocytosis of neurotransmitter
GO:0061024 membrane organization
GO:1903861 positive regulation of dendrite extension

Cellular Component:
GO:0005886 plasma membrane
GO:0008021 synaptic vesicle
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0030665 clathrin-coated vesicle membrane
GO:0030672 synaptic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0042584 chromaffin granule membrane
GO:0045202 synapse


-  Descriptions from all associated GenBank mRNAs
  AK090672 - Homo sapiens cDNA FLJ33353 fis, clone BRACE2005118, highly similar to SYNAPTOTAGMIN II.
BC100814 - Homo sapiens synaptotagmin II, mRNA (cDNA clone MGC:118846 IMAGE:40000996), complete cds.
BC100815 - Homo sapiens synaptotagmin II, mRNA (cDNA clone MGC:118847 IMAGE:40000997), complete cds.
BC100816 - Homo sapiens synaptotagmin II, mRNA (cDNA clone IMAGE:40000998), partial cds.
BC100817 - Homo sapiens synaptotagmin II, mRNA (cDNA clone MGC:118849 IMAGE:40001000), complete cds.
AF070580 - Homo sapiens clone 24527 mRNA sequence.
AK124510 - Homo sapiens cDNA FLJ42519 fis, clone BRACE3000787.
JD326166 - Sequence 307190 from Patent EP1572962.
JD354615 - Sequence 335639 from Patent EP1572962.
JD364848 - Sequence 345872 from Patent EP1572962.
JD492524 - Sequence 473548 from Patent EP1572962.
JD426216 - Sequence 407240 from Patent EP1572962.
JD371643 - Sequence 352667 from Patent EP1572962.
JD132334 - Sequence 113358 from Patent EP1572962.
JD231273 - Sequence 212297 from Patent EP1572962.
JD566282 - Sequence 547306 from Patent EP1572962.
JD203491 - Sequence 184515 from Patent EP1572962.
JD062931 - Sequence 43955 from Patent EP1572962.
JD192614 - Sequence 173638 from Patent EP1572962.
JD108201 - Sequence 89225 from Patent EP1572962.
JD289065 - Sequence 270089 from Patent EP1572962.
JD188272 - Sequence 169296 from Patent EP1572962.
JD171459 - Sequence 152483 from Patent EP1572962.
JD468529 - Sequence 449553 from Patent EP1572962.
JD496157 - Sequence 477181 from Patent EP1572962.
JD508045 - Sequence 489069 from Patent EP1572962.
JD446638 - Sequence 427662 from Patent EP1572962.
JD133919 - Sequence 114943 from Patent EP1572962.
JD226544 - Sequence 207568 from Patent EP1572962.
JD180133 - Sequence 161157 from Patent EP1572962.
JD162169 - Sequence 143193 from Patent EP1572962.
JD544614 - Sequence 525638 from Patent EP1572962.
JD508539 - Sequence 489563 from Patent EP1572962.
JD223369 - Sequence 204393 from Patent EP1572962.
JD488428 - Sequence 469452 from Patent EP1572962.
JD219823 - Sequence 200847 from Patent EP1572962.
JD246486 - Sequence 227510 from Patent EP1572962.
JD463422 - Sequence 444446 from Patent EP1572962.
JD109277 - Sequence 90301 from Patent EP1572962.
JD108661 - Sequence 89685 from Patent EP1572962.
JD334091 - Sequence 315115 from Patent EP1572962.
JD134675 - Sequence 115699 from Patent EP1572962.
AK123444 - Homo sapiens cDNA FLJ41450 fis, clone BRSTN2008052.
JD318975 - Sequence 299999 from Patent EP1572962.
JD146582 - Sequence 127606 from Patent EP1572962.
JD157004 - Sequence 138028 from Patent EP1572962.
JD449389 - Sequence 430413 from Patent EP1572962.
AK094430 - Homo sapiens cDNA FLJ37111 fis, clone BRACE2021254, highly similar to SYNAPTOTAGMIN II.
JD335015 - Sequence 316039 from Patent EP1572962.
JD353274 - Sequence 334298 from Patent EP1572962.
JD154488 - Sequence 135512 from Patent EP1572962.
JD232820 - Sequence 213844 from Patent EP1572962.
JD491871 - Sequence 472895 from Patent EP1572962.
JD354251 - Sequence 335275 from Patent EP1572962.
JD066258 - Sequence 47282 from Patent EP1572962.
JD126319 - Sequence 107343 from Patent EP1572962.
JD566644 - Sequence 547668 from Patent EP1572962.
JD296957 - Sequence 277981 from Patent EP1572962.
JD370508 - Sequence 351532 from Patent EP1572962.
KJ895438 - Synthetic construct Homo sapiens clone ccsbBroadEn_04832 SYT2 gene, encodes complete protein.
AB527568 - Synthetic construct DNA, clone: pF1KB6645, Homo sapiens SYT2 gene for synaptotagmin II, without stop codon, in Flexi system.
JD269421 - Sequence 250445 from Patent EP1572962.
JD520489 - Sequence 501513 from Patent EP1572962.
JD444013 - Sequence 425037 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8N9I0 (Reactome details) participates in the following event(s):

R-HSA-5244397 BoNT/B HC:LC binds SYT1 or 2 and GT1b on the target cell surface
R-HSA-6794348 NRXNs bind SYTs
R-HSA-8863463 STON2 binds SYT proteins
R-HSA-8867756 CLASP proteins and cargo are recruited to the nascent clathrin-coated pit
R-HSA-8868071 Clathrin recruits PIK3C2A
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8868072 Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-5250958 Toxicity of botulinum toxin type B (BoNT/B)
R-HSA-6794361 Neurexins and neuroligins
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-168799 Neurotoxicity of clostridium toxins
R-HSA-6794362 Protein-protein interactions at synapses
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-5339562 Uptake and actions of bacterial toxins
R-HSA-112316 Neuronal System
R-HSA-199991 Membrane Trafficking
R-HSA-5663205 Infectious disease
R-HSA-5653656 Vesicle-mediated transport
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000367268.1, ENST00000367268.2, ENST00000367268.3, ENST00000367268.4, NM_177402, Q496K5, Q8N9I0, Q8NBE5, SYT2 , SYT2_HUMAN, uc318fub.1, uc318fub.2
UCSC ID: ENST00000367268.5_7
RefSeq Accession: NM_177402.5
Protein: Q8N9I0 (aka SYT2_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SYT2:
cms (Congenital Myasthenic Syndromes Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.