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Aliases for SYT2 Gene

Aliases for SYT2 Gene

  • Synaptotagmin 2 2 3 5
  • Synaptotagmin II 2 3 4
  • SytII 3 4
  • MYSPC 3
  • CMS7 3

External Ids for SYT2 Gene

Previous GeneCards Identifiers for SYT2 Gene

  • GC01U990163
  • GC01M197998
  • GC01M199031
  • GC01M199853
  • GC01M199296
  • GC01M200826
  • GC01M173725

Summaries for SYT2 Gene

Entrez Gene Summary for SYT2 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]

GeneCards Summary for SYT2 Gene

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 Infectious disease and Uptake and actions of bacterial toxins. GO annotations related to this gene include calcium ion binding and syntaxin binding. An important paralog of this gene is SYT5.

UniProtKB/Swiss-Prot for SYT2 Gene

  • Exhibits calcium-dependent phospholipid and inositol polyphosphate binding properties (By similarity). May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).

Gene Wiki entry for SYT2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SYT2 Gene

Genomics for SYT2 Gene

Regulatory Elements for SYT2 Gene

Genomic Location for SYT2 Gene

Chromosome:
1
Start:
202,587,637 bp from pter
End:
202,710,444 bp from pter
Size:
122,808 bases
Orientation:
Minus strand

Genomic View for SYT2 Gene

Genes around SYT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SYT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SYT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYT2 Gene

Proteins for SYT2 Gene

  • Protein details for SYT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N9I0-SYT2_HUMAN
    Recommended name:
    Synaptotagmin-2
    Protein Accession:
    Q8N9I0
    Secondary Accessions:
    • Q496K5
    • Q8NBE5

    Protein attributes for SYT2 Gene

    Size:
    419 amino acids
    Molecular mass:
    46872 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Homotetramer (Probable). Interacts with STON2 (PubMed:11381094). Interacts with SCAMP5 (PubMed:19234194).

neXtProt entry for SYT2 Gene

Proteomics data for SYT2 Gene at MOPED

Post-translational modifications for SYT2 Gene

  • Glycosylation at Asn 29
  • Modification sites at PhosphoSitePlus

Other Protein References for SYT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SYT2 Gene

Domains & Families for SYT2 Gene

Gene Families for SYT2 Gene

Protein Domains for SYT2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SYT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N9I0

UniProtKB/Swiss-Prot:

SYT2_HUMAN :
  • The first C2 domain mediates Ca(2+)-dependent phospholipid binding.
  • Belongs to the synaptotagmin family.
Domain:
  • The first C2 domain mediates Ca(2+)-dependent phospholipid binding.
  • The second C2 domain mediates interaction with Stonin 2. The second C2 domain mediates phospholipid and inositol polyphosphate binding in a calcium-independent manner.
  • Contains 2 C2 domains.
Family:
  • Belongs to the synaptotagmin family.
genes like me logo Genes that share domains with SYT2: view

Function for SYT2 Gene

Molecular function for SYT2 Gene

GENATLAS Biochemistry:
synaptotagmin 2,multifunctional intrinsic membrane protein of synaptic vesicles and chromaffin granules,involved in exocytosis and endocytosis
UniProtKB/Swiss-Prot Function:
Exhibits calcium-dependent phospholipid and inositol polyphosphate binding properties (By similarity). May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).
genes like me logo Genes that share phenotypes with SYT2: view

Human Phenotype Ontology for SYT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SYT2 Gene

MGI Knock Outs for SYT2:

Animal Model Products

  • Taconic Biosciences Mouse Models for SYT2

miRNA for SYT2 Gene

miRTarBase miRNAs that target SYT2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for SYT2 Gene

Localization for SYT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYT2 Gene

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Single-pass membrane protein. Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane; Single-pass membrane protein. Note=Synaptic vesicles and chromaffin granules. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SYT2 Gene COMPARTMENTS Subcellular localization image for SYT2 gene
Compartment Confidence
plasma membrane 5
cytosol 3
mitochondrion 2
endosome 1
lysosome 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SYT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IBA --
GO:0030672 synaptic vesicle membrane TAS --
GO:0042584 chromaffin granule membrane IEA --
genes like me logo Genes that share ontologies with SYT2: view

Pathways & Interactions for SYT2 Gene

genes like me logo Genes that share pathways with SYT2: view

Gene Ontology (GO) - Biological Process for SYT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0048488 synaptic vesicle endocytosis IBA --
GO:0048791 calcium ion-regulated exocytosis of neurotransmitter IBA --
genes like me logo Genes that share ontologies with SYT2: view

No data available for SIGNOR curated interactions for SYT2 Gene

Drugs & Compounds for SYT2 Gene

(3) Drugs for SYT2 Gene - From: DGIdb, DrugBank, Novoseek, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Botulinum Toxin Type B Approved Pharma binder, Target 0
calcium Nutra 0

(1) Additional Compounds for SYT2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SYT2: view

Transcripts for SYT2 Gene

mRNA/cDNA for SYT2 Gene

(4) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SYT2 Gene

Synaptotagmin II:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SYT2 Gene

No ASD Table

Relevant External Links for SYT2 Gene

GeneLoc Exon Structure for
SYT2
ECgene alternative splicing isoforms for
SYT2

Expression for SYT2 Gene

mRNA expression in normal human tissues for SYT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SYT2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x13.6) and Brain - Cerebellum (x13.1).

Protein differential expression in normal tissues from HIPED for SYT2 Gene

This gene is overexpressed in Brain (48.0), Frontal cortex (7.8), and Fetal Brain (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SYT2 Gene



SOURCE GeneReport for Unigene cluster for SYT2 Gene Hs.25422

mRNA Expression by UniProt/SwissProt for SYT2 Gene

Q8N9I0-SYT2_HUMAN
Tissue specificity: Expressed in melanocytes (PubMed:23999003).
genes like me logo Genes that share expression patterns with SYT2: view

Protein tissue co-expression partners for SYT2 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for SYT2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SYT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SYT2 35
  • 99.76 (n)
  • 100 (a)
SYT2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SYT2 36
  • 96 (a)
OneToOne
SYT2 35
  • 89.13 (n)
  • 96.16 (a)
mouse
(Mus musculus)
Mammalia Syt2 16
Syt2 35
  • 89.42 (n)
  • 98.33 (a)
Syt2 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SYT2 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SYT2 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Syt2 35
  • 88.62 (n)
  • 98.09 (a)
chicken
(Gallus gallus)
Aves SYT2 35
  • 83.05 (n)
  • 88.32 (a)
SYT2 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SYT2 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia syt2 35
  • 74.17 (n)
  • 85.96 (a)
zebrafish
(Danio rerio)
Actinopterygii SYT2 (1 of 2) 36
  • 72 (a)
OneToMany
syt2a 36
  • 70 (a)
OneToMany
Dr.11215 35
LOC559637 35
  • 74.61 (n)
  • 74.94 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8468 36
  • 66 (a)
OneToMany
Species with no ortholog for SYT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SYT2 Gene

ENSEMBL:
Gene Tree for SYT2 (if available)
TreeFam:
Gene Tree for SYT2 (if available)

Paralogs for SYT2 Gene

Paralogs for SYT2 Gene

(19) SIMAP similar genes for SYT2 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for SYT2 Gene

genes like me logo Genes that share paralogs with SYT2: view

Variants for SYT2 Gene

Sequence variations from dbSNP and Humsavar for SYT2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_072578 Myasthenic syndrome, congenital, 7, presynaptic (CMS7)
VAR_072579 Myasthenic syndrome, congenital, 7, presynaptic (CMS7)
rs506135 -- 202,613,068(+) TCTTC(C/T)TTTTT intron-variant
rs513045 -- 202,589,816(+) CTCAG(A/G)TGGGC utr-variant-3-prime
rs566782 -- 202,636,441(-) GCAGA(C/T)GATGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SYT2 Gene

Variant ID Type Subtype PubMed ID
nsv832337 CNV Loss 17160897
dgv173e1 CNV Complex 17122850
esv2721617 CNV Deletion 23290073
esv2721628 CNV Deletion 23290073
esv2721639 CNV Deletion 23290073
esv2721650 CNV Deletion 23290073
esv3721 CNV Complex 18987735
esv2721661 CNV Deletion 23290073
esv2721672 CNV Deletion 23290073
nsv4099 CNV Insertion 18451855
nsv832348 CNV Loss 17160897
esv2545821 CNV Insertion 19546169
nsv7186 OTHER Inversion 18451855

Variation tolerance for SYT2 Gene

Residual Variation Intolerance Score: 15% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SYT2 Gene

HapMap Linkage Disequilibrium report
SYT2
Human Gene Mutation Database (HGMD)
SYT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SYT2 Gene

Disorders for SYT2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for SYT2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 7, presynaptic
  • myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy
presynaptic congenital myasthenic syndromes
  • congenital myasthenic syndromes, presynaptic
syt2-related congenital myasthenic syndrome
  • myasthenic syndrome, congenital, 7, presynaptic
myasthenic syndrome, congenital, 15, without tubular aggregates
  • myasthenic syndrome, congenital, 15
lambert-eaton myasthenic syndrome
  • eaton-lambert syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SYT2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYT2_HUMAN
  • Myasthenic syndrome, congenital, 7, presynaptic (CMS7) [MIM:616040]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS7 is an autosomal dominant, presynaptic disorder resembling Lambert-Eaton myasthenic syndrome. Affected individuals have a variable degree of proximal and distal limb weakness, muscle fatigue that improves with rest, mild gait difficulties, and reduced or absent deep tendon reflexes. {ECO:0000269 PubMed:25192047}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SYT2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SYT2
genes like me logo Genes that share disorders with SYT2: view

No data available for Genatlas for SYT2 Gene

Publications for SYT2 Gene

  1. Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. (PMID: 25192047) Herrmann D.N. … Zuchner S. (Am. J. Hum. Genet. 2014) 3 4 67
  2. Dominant antigenic peptides located at the heavy chain terminal of botulinum neurotoxin B contain receptor-binding sites for synaptotagmin II. (PMID: 18639519) Shi J. … Wang H. (Biochem. Biophys. Res. Commun. 2008) 3 23
  3. WNK1 phosphorylates synaptotagmin 2 and modulates its membrane binding. (PMID: 15350218) Lee B.H. … Cobb M.H. (Mol. Cell 2004) 3 23
  4. Amino acid residues before the hydrophobic region which are critical for membrane translocation of the N-terminal domain of synaptotagmin II. (PMID: 11696368) Kida Y. … Mihara K. (FEBS Lett. 2001) 3 23
  5. Synaptotagmin II negatively regulates Ca2+-triggered exocytosis of lysosomes in mast cells. (PMID: 10330444) Baram D. … Sagi-Eisenberg R. (J. Exp. Med. 1999) 3 23

Products for SYT2 Gene

Sources for SYT2 Gene

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