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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
  • Synaptotagmin-2 3
  • 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 Uptake and actions of bacterial toxins and Infectious disease. GO annotations related to this gene include calcium ion binding and syntaxin binding. An important paralog of this gene is SYT1.

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

Enhancers for SYT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SYT2 on UCSC Golden Path with GeneCards custom track

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

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).

Gene Ontology (GO) - Molecular Function for SYT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA --
GO:0005515 protein binding IPI 19234194
GO:0005544 calcium-dependent phospholipid binding ISS --
GO:0019905 syntaxin binding IBA --
GO:0030276 clathrin binding IBA --
genes like me logo Genes that share ontologies with SYT2: view
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

CRISPR Products

miRNA for SYT2 Gene

miRTarBase miRNAs that target SYT2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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 IEA --
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:0030672 synaptic vesicle membrane TAS --
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:0006906 vesicle fusion IBA --
GO:0017158 regulation of calcium ion-dependent exocytosis IBA --
GO:0048488 synaptic vesicle endocytosis IBA --
GO:0048791 calcium ion-regulated exocytosis of neurotransmitter IBA --
GO:1903861 positive regulation of dendrite extension IDA 23999003
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: DrugBank, DGIdb, HMDB, and Novoseek

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

(8) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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



Protein tissue co-expression partners for SYT2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SYT2 Gene:

SYT2

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

Primer 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
cow
(Bos Taurus)
Mammalia SYT2 34
  • 89.13 (n)
  • 96.16 (a)
SYT2 35
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Syt2 34
  • 89.42 (n)
  • 98.33 (a)
Syt2 16
Syt2 35
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SYT2 34
  • 99.76 (n)
  • 100 (a)
SYT2 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Syt2 34
  • 88.62 (n)
  • 98.09 (a)
oppossum
(Monodelphis domestica)
Mammalia SYT2 35
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SYT2 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves SYT2 34
  • 83.05 (n)
  • 88.32 (a)
SYT2 35
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SYT2 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia syt2 34
  • 74.17 (n)
  • 85.96 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.11215 34
LOC559637 34
  • 74.61 (n)
  • 74.94 (a)
SYT2 (1 of 2) 35
  • 72 (a)
OneToMany
syt2a 35
  • 70 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8468 35
  • 66 (a)
OneToMany
Species where no ortholog for SYT2 was found in the sources mined by GeneCards:
  • 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
rs511317 -- 202,607,017(+) CACTG(G/T)TAGAC intron-variant, upstream-variant-2KB
rs513045 -- 202,589,816(+) CTCAG(A/G)TGGGC utr-variant-3-prime

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

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

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

Human Gene Mutation Database (HGMD)
SYT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SYT2

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

Disorders for SYT2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 7, presynaptic
  • cms7
presynaptic congenital myasthenic syndromes
syt2-related congenital myasthenic syndrome
  • myasthenic syndrome, congenital, 7, presynaptic
lambert-eaton myasthenic syndrome
  • eaton-lambert syndrome
botulism
  • botulism poisoning
- 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 65
  2. SYT14L, especially its C2 domain, is involved in regulating melanocyte differentiation. (PMID: 23999003) Yoo J.C. … Yoon T.J. (J. Dermatol. Sci. 2013) 3 4 65
  3. Human SCAMP5, a novel secretory carrier membrane protein, facilitates calcium-triggered cytokine secretion by interaction with SNARE machinery. (PMID: 19234194) Han C. … Cao X. (J. Immunol. 2009) 3 4 65
  4. 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 22 65
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65

Products for SYT2 Gene

Sources for SYT2 Gene

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