Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
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