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FLASH GENE
Symbol ESYT2 contributors: mct/ - updated : 17-04-2020
HGNC name extended synaptotagmin-like protein 2
HGNC id 22211
Location 7q36.3      Physical location : 158.523.688 - 158.622.319
Synonym name
  • family with sequence similarity 62 (C2 domain containing) member B
  • chr2 synaptotagmin
  • FAM62B protein
  • extended synaptotagmin-like proteins 2
  • Synonym symbol(s) KIAA1228, CHR2SYT, E-SYT2, FAM62B, Chr2Syt
    DNA
    TYPE functioning gene
    STRUCTURE 98.58 kb     22 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 5957 99 893 - 2014 25468996
    23 - 5902 - 866 - 2014 25468996
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
     salivary gland   highly
    Reproductivefemale systemovary  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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