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FLASH GENE
Symbol RAB39B contributors: mct - updated : 10-01-2015
HGNC name RAB39B, member RAS oncogene family
HGNC id 16499
Corresponding disease
BGMR basal ganglion disorder with mental retardation
MRX72 mental retardation, 72
Location Xq28      Physical location : 154.487.526 - 154.493.852
Synonym name ras-related protein Rab-39B
DNA
TYPE functioning gene
STRUCTURE 6.33 kb     2 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
2 - 3499 24.5 213 - 2002 12438742
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainlimbic systemhippocampus highly Homo sapiens
Reproductivemale systemtestis  moderately Homo sapiens
Respiratorylung   moderately Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a RAS domain
  • HOMOLOGY
    intraspecies paralog to RAB39A
    Homologene
    FAMILY
  • small GTPase superfamily
  • Rab family
  • CATEGORY regulatory , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • playing a role in vesicular trafficking
  • possible role in the recycling pathway connecting the plasma membrane, endosomes, and trans-Golgi network
  • could be involved in intracellular trafficking related to membrane recycling throughout Golgi-derived vesicles
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP
  • protein
  • UACA is a specific RAB39A/B-binding protein
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRX72 , BGMR
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    resulted in a drastic reduction in the total number of synapses without gross differences in synaptic-vesicle recycling in the remaining synapses
    constitutional       loss of function
    results in dysregulation of SNCA homeostasis and in Parkinson disease
    constitutional       gain of function
    increased dosage of RAB39B causes a disturbed neuronal development leading to cognitive impairment in patients with this recurrent copy number gain
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • overexpression of Rab39b in mouse primary hippocampal neurons demonstrated a significant decrease in neuronal branching as well as in the number of synapses when compared with the control neurons