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FLASH GENE
Symbol ESYT2 contributors: mct/ - updated : 17-04-2020
HGNC name extended synaptotagmin-like protein 2
HGNC id 22211
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two N-terminal transmembrane region
  • a central juxtamembranous domain that is conserved, the central SMP-domain
  • three C-terminal C2 domains, that control the subcellular distribution of proteins during elementary cell signalling events by calcium dependent lipid binding, and One of the tandem C&
  • 8322; domains of is predicted to bind CaČ&
    8314;, but no CaČ&
    8314;-dependent function has been attributed to this protein
    HOMOLOGY
    interspecies ortholog to murine D12Ertd551e
    intraspecies homolog to synaptotagmin
    Homologene
    FAMILY
  • extended synaptotagmin family
  • multi-C2 domain membrane proteins family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • localizes to presynaptic ER structures at the neuromuscular junction
  • basic FUNCTION
  • multi-C2 protein, presumably involved in Ca-dependent signaling events
  • functioning as Ca2+-regulated intrinsic membrane proteins with multiple C2 domains, expanding the repertoire of such proteins to a fourth class beyond synaptotagmins, ferlins, and MCTPs (multiple C2 domain and transmembrane region proteins)
  • endoplasmic reticulum (ER)-plasma membrane (PM) tethering function of ESYT1, ESYT2, ESYT3 (tricalbins in yeast) mediates the formation of ER-PM contacts sites, which are functionally distinct from those mediated by STIM1 and ORAI1
  • implicated in the formation of junctions between endoplasmic reticulum and plasma membrane, as well as the Ca(2+) dependent replenishment of membrane phospholipids
  • implicated in the formation of endoplasmic reticulum (ER)-plasma membrane (PM) junctions and in the Ca(2+) dependent regulation of these junctions
  • ESYT2 recognizes a site in the upper kinase lobe of FGFR1 that is revealed by displacement of the kinase domain activation loop during receptor activation
  • is a presynaptic ER protein that can promote neurotransmission and synaptic growth, revealing the first neuronal functions of this conserved gene family
  • GRAMD2A, but not GRAMD1A, co-localizes with the ESYT2/ESYT3 tethers at ER-PM contacts in a PIP lipid-dependent manner
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ESYT2 and ESYT3, but not ESYT1, selectively interact with activated FGFR1
  • bind phospholipids in a Ca2+-dependent manner via its C2-domains, is localized to ER-plasma membrane contact sites, and may catalyze lipid exchange between the plasma membrane and the ER via its SMP-domains
  • UBQLN1 interacts with IGF1R and ESYT2 through the STI domains and stabilizes these proteins through its UBA domain
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • even the combined inactivation of Esyt1, Esyt2, ESyt3 genes has no effect on mouse viability or fertility in the laboratory