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FLASH GENE
Symbol DMXL2 contributors: mct - updated : 22-09-2020
HGNC name Dmx-like 2
HGNC id 2938
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   highly Homo sapiens
Reproductivefemale systemovary    Homo sapiens
 male systemtestis    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
Reproductivegerm cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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