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FLASH GENE
Symbol RAB3GAP2 contributors: mct - updated : 24-08-2011
HGNC name RAB3 GTPase activating protein subunit 2 (non-catalytic)
HGNC id 17168
Corresponding disease
CMRH cataract-mental retardation-hypogonadism
Location 1q41      Physical location : 220.321.609 - 220.445.843
Synonym name rab3 GTPase-activating protein, non-catalytic subunit (RAB3-GAP150)
Synonym symbol(s) FLJ14579, KIAA0839, RAB3-GAP150, RAB3GAP150, p150
DNA
TYPE functioning gene
STRUCTURE 124.23 kb     35 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
35 - 7329 - 1393 - 1998 9733780
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
Endocrinethyroid   highly
Hearing/Equilibriumear   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY RAB3 protein family
CATEGORY regulatory
SUBCELLULAR LOCALIZATION extracellular
    plasma membrane
    intracellular
intracellular,cytoplasm,cytosolic
basic FUNCTION
  • regulatory subunit of a gtpase activating protein that has specificity for RAB3 subfamily (RAB3a, RAB3b, RAB3c and RAB3d), involved in regulated exocytosis of neurotransmitters and hormones
  • having a key role in neurodevelopment
  • with RAB3GAP1 encode the catalytic and noncatalytic subunits of the hetrodimeric enzyme RAB3GAP (RAB3GTPase-activating protein), a key regulator of the RAB3 cycle
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component heterodimer composed of RAB3GAP and RAB3-GAP150
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMRH
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS