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FLASH GENE
Symbol DMXL2 contributors: mct - updated : 29-04-2011
HGNC name Dmx-like 2
HGNC id 2938
Location 15q21.2      Physical location : 51.739.920 - 51.914.967
Synonym name rabconnectin-3 alpha
Synonym symbol(s) RC3, KIAA0856, RAB3ACA, FLJ26672, RBCN-3a
DNA
TYPE functioning gene
STRUCTURE 175.04 kb     43 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
41 - 8688 270.1 2400 - 2002 11809763
43 - 10596 339.6 3036 - 2002 11809763
43 - 10599 339.7 3037 - 2002 11809763
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   highly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron 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
  • 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
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS