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FLASH GENE
Symbol DMXL2 contributors: mct - updated : 22-09-2020
HGNC name Dmx-like 2
HGNC id 2938
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
12 WD domains
HOMOLOGY
Homologene
FAMILY
CATEGORY chaperone/stress
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic,vesicle
text
  • co-localized on synaptic vesicles
    • basic FUNCTION
  • scaffold molecule for both RAB3AGEP and GAP on synaptic vesicles
  • having properties in Ca(2+)-dependent exocytosis (
  • important role for DMXL2 and V-ATPase activity in the Notch signaling pathway in mammalian cells
  • necessary for proper Notch signaling in mammalian keratinocytes
  • likely influences Notch signaling through its involvement in the acidification of intracellular compartments via the V-ATPase complex
  • could be involved in the maturation of neurons or glial cells afferent to GnRH neurons, but also other neuronal populations
  • exerts its principal function in the testes at the onset of puberty, although its absence does not compromise male fertility in mice
  • regulates v-ATPase assembly and activity and participates in intracellular signalling pathways
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component associating with WDR7 (RAB3ABPB), formed a stable complex with rabconnectin-3beta
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RAB3AGAP, RAB3AGEP
  • has the propensity to regulate calcium entry mediated by CACNA1B channels
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE81 , DFNA71
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    osteoarticularbone 
    role in the transduction and function of Notch signaling in mammalian cells and V-ATPase inhibitors are potential therapeutic agents to disrupt Notch signaling
    ANIMAL & CELL MODELS
  • male mice with Dmxl2 deletions, either throughout the testes or exclusively in germ cells, presented a subtle testicular phenotype during the first wave of spermatogenesis that was clearly detectable at puberty