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FLASH GENE
Symbol DRP2 contributors: mct - updated : 13-04-2016
HGNC name dystrophin related protein 2
HGNC id 3032
Location Xq22.1      Physical location : 100.474.932 - 100.519.485
Synonym symbol(s) MGC133255, DRP-2
DNA
TYPE functioning gene
STRUCTURE 44.55 kb     24 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
24 - 7118 108 957 - 2007 17851739
22 - 5835 - 879 - 2007 17851739
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
 spinal cord    
reproductiveepididymis   lowly
Reproductivefemale systemovary  lowly
 male systemtestis  lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a WW domain
  • two spectrin repeats
  • a ZZ-type zinc finger
  • HOMOLOGY
    interspecies ortholog to murine Drp2
    homolog to C.elegans C04F12.1
    intraspecies homolog to Apo-dystrophin 2 (Dp116)
    homolog to dystrophin protein 2
    Homologene
    FAMILY
  • dystrophin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
    basic FUNCTION
  • playing a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells
  • involved in membrane-cytoskeleton interactions of the central nervous system
  • DRP2 and periaxin form Cajal bands with dystroglycan but have distinct roles in Schwann cell growth
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , nervous system
    text central nervous system development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • PRX-DRP2 interaction is also required for DRP2 phosphorylation, but phosphorylation is not required for the assembly of appositions
  • DRP2 interacts with PRX and dystroglycan to form the PRX-DRP2-dystroglycan complex which plays a role in the maintenance of the well-characterized Cajal bands of myelinating Schwann cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene may be considered as novel autism candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Drp2-null Schwann cells have disrupted appositions and Cajal bands, and they undergo focal hypermyelination and concomitant demyelination