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FLASH GENE
Symbol GBA2 contributors: npt/shn - updated : 25-10-2017
HGNC name glucosidase, beta (bile acid) 2
HGNC id 18986
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N and C termini are directly accessible from the cytosol, ruling out any lumenal or extracellular localization
  • a putative transmembrane domain
  • six-hairpin-glucosidase-like domain
  • HOMOLOGY
    interspecies ortholog to Gba2, Rattus norvegicus
    ortholog to Gba2, Mus musculus
    ortholog to gba2, Danio rerio
    ortholog to GBA2, Pan troglodytes
    Homologene
    FAMILY
  • non-lysosomal glucosylceramidase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,microsome
    text
  • is not an integral membrane protein but rather is membrane-associated at the ER and Golgi
  • expressed in the cytosol, but its expression also spatially overlapped with calnexin, an ER marker; with GOLGA2, a marker for the cis-Golgi network; and with giantin, a marker for the Golgi cisternae
  • basic FUNCTION
  • GBA and GBA2 are not only glucosylceramide beta-glucosidases but both also bile acid beta-glucosidases
  • role of in the central nervous system development
  • GBA and GBA2 are both beta-glucosidases, which cleave glucosylceramide (GlcCer) to glucose and ceramide
  • is not an integral membrane protein but rather is tightly associated with membranes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text
  • bile acid beta-glucosidase activity
  • PATHWAY
    metabolism
    signaling
  • sphingolipid metabolism
  • catalyzes the conversion of glucosylceramide to free glucose and ceramide as well as the reverse reaction consisting in the transfer of glucose to different lipid substrates
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GBA, GBA2, both have glucosylceramide as a main natural substrate
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG46 , MSS1L
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in spastic ataxia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • male mice Knockout for Gba2 exhibited impaired fertility which is due to globozoospermia, abnormal sperm acrosomes, and defective sperm mobility
  • GBA2-targeted RNA interference reduces endogenous non-lysosomal glucosylceramidase activity in cells
  • in mice pharmacological inhibition of GBA2 activity is associated with impaired spermatogenesis
  • knock down of mouse Gba2 by antisense morpholino oligonucleotide induced a curly tail phenotype in 12.5% of morphants and a substantial proportion of morphants showed significant motility defects characterized by slower movements and shorter touch-induced escape distances
  • in zebrafish model, human GBA2 mRNA can partially compensate for the loss of endogenous zebrafish mRNA which decreases motility defects