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FLASH GENE
Symbol SYT2 contributors: mct - updated : 07-10-2014
HGNC name synaptotagmin II
HGNC id 11510
Corresponding disease
PMSN presynaptic congenital myasthenic syndrome with or without motor neuropathy
Location 1q32.1      Physical location : 202.559.726 - 202.679.551
Synonym symbol(s) SYTG2, SYTll, E-SYT2
DNA
TYPE functioning gene
STRUCTURE 119.83 kb     9 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned   linked   status tentative : very preliminary evidence
Physical map
IPO9 1q31.3 importin 9 LOC149345 LMOD1 1q32 leiomodin 1 (smooth muscle) TIMM17A 1q31.3-q32 translocase of inner mitochondrial membrane 17 homolog A (yeast) LOC391151 1 similar to 60S ribosomal protein L10 (QM protein homolog) RNPEP 1q32.1-q32.2 arginyl aminopeptidase (aminopeptidase B) ELF3 1q32.2 E74-like factor 3 (ets domain transcription factor, epithelial-specific ) ET(B)R-LP-2 1q32.1 endothelin type b receptor-like protein 2 LOC127829 PTPN7 1q32.1 protein tyrosine phosphatase, non-receptor type 7 LOC388726 1 similar to osteotesticular protein tyrosine phosphatase LOC148713 1q32.1 similar to Osteotesticular phosphatase; protein tyrosine phosphatase, receptor type, V LGR6 1q32.1 leucine-rich repeat-containing G protein-coupled receptor 6 HSPC150 1q32.1 HSPC150 protein similar to ubiquitin-conjugating enzyme PPP1R12B 1q32.1 protein phosphatase 1, regulatory (inhibitor) subunit 12B HCP4 1q32.1 cytochrome c, somatic pseudogene SYT2 1q31.3 synaptotagmin II PLU-1 1q32.1 putative DNA/chromatin binding motif LOC388727 1 LOC388727 LOC163556 1q32.1 similar to RIKEN cDNA 4931440L10 LOC391152 1 similar to Tubulin alpha-2 chain (Alpha-tubulin 2) LOC388728 1 similar to alpha tubulin LOC391153 1 similar to actin RABIF 1q32-q41 RAB interacting factor C3IP1 1q32.1 kelch-like protein C3IP1 ADIPOR1 1p36.13-q41 adiponectin receptor 1 CYB5R1 1p36.13-q41 cytochrome b5 reductase 1 (B5R.1) LOC391154 1 similar to hypothetical protein 4933406M09 C1orf37 1q31.1 chromosome 1 open reading frame 37 PPFIA4 1q32.1 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 MYOG 1q31-q41 myogenin (myogenic factor 4) ADORA1 1q32.1 adenosine A1 receptor MYBPH 1q32.1 myosin binding protein H CHI3L1 1q31-q32 chitinase 3-like 1 (cartilage glycoprotein-39) CHIT1 1q31-q32 chitinase 1 (chitotriosidase) LOC388729 1 LOC388729 BTG2 1q32 BTG family, member 2 FMOD 1q32.1 fibromodulin
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 7504 - 419 - 2001 11543631
9 - 7514 - 419 - 2001 11543631
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinnercochlea   Homo sapiens
Nervousbrainlimbic systemhippocampus   Mus musculus
 brainhindbraincerebellum   Mus musculus
Visualeyeretina    Mus musculus
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES Hydrophobic
STRUCTURE
motifs/domains
  • an intravesicular N terminal domain
  • a single transmembrane (TM) region
  • a phospholipid binding C2C domain specifically binds a site adjacent to the CRIB/GBD of PAK1
  • a C2B domain essential for neurotransmitter release at the NMJ
  • two protein kinase C-homologous repeats (Ca2+ binding domains C2)
  • a conserved WHXL motif in the C terminus
  • mono polymer homomer , heteromer , complex
    HOMOLOGY
    interspecies homolog to murine Syt2
    ortholog to rattus Syt2
    Homologene
    FAMILY synaptotagmin family
    CATEGORY structural protein , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,granule
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,nucleus
    text in synaptic vesicles
    basic FUNCTION
  • calcium sensor for transmitter release at the central synapse, involved in exocytosis and endocytosis
  • functioning as a Ca2+ sensor for fast neurotransmitter release in caudal brain regions
  • major isoform of the synaptotagmin family at mammalian neuromuscular junctions (NMJs), functioning as a calcium sensor for neurotransmission
  • being an essential synaptotagmin isoform that functions in concert with other synaptotagmins in the Ca2+ triggering of neurotransmitter release
  • unlike neurons, the lack of SYT2 in mast cells was not associated with increased spontaneous exocytosis
  • controls regulated exocytosis but not other secretory responses of mast cells
  • negative regulator of chemotaxis
  • increases the dynamic range of synapses by driving release with a high CaČ+ cooperativity, as well as by suppressing a remaining, near-linear CaČ+ sensor
  • synaptic vesicle protein, major isoform of the synaptotagmin family at mammalian neuromuscular junctions (NMJs) and functioning as a calcium sensor for neurotransmission
  • regulates neurotransmitter release at human peripheral motor nerve terminals
  • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS nervous system , exocytosis transport , endocytosis transport
    PATHWAY
    metabolism
    signaling
    a component multifunctional intrinsic membrane protein of synaptic vesicles of neurons and chromaffin granules
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    calcium Ca2+
    protein
  • phosphorylation by WNK1 can regulate Ca2+ sensing and the subsequent Ca2+-dependent interactions mediated by SYT C2 domains
  • interacts with phospholipid membrane domains via SYT2, where it may cooperate in the SYT2-dependent endocytosis of activated FGFR1 by modulating cortical actin stability
  • is an essential endocytic adapter for FGFR1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PMSN
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS