Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol GBA2 contributors: npt/shn - updated : 25-10-2017
HGNC name glucosidase, beta (bile acid) 2
HGNC id 18986
Corresponding disease
MSS1L Marinesco-Sjogren syndrome 1 like
SPG46 Spastic paraplegia 46
Location 9p13.3      Physical location : 35.736.863 - 35.749.225
Synonym name
  • bile acid beta-glucosidase
  • non-lysosomal glucosylceramidase
  • glucosylceramidase 2
  • NLGase
  • beta-glucocerebrosidase 2
  • beta-glucosidase 2
    • Synonym symbol(s) KIAA1605, AD035, DKFZp762K054, MGC16895, NLGase
    EC.number 3.2.1.45
    DNA
    TYPE functioning gene
    STRUCTURE 12.36 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D9S1817 - D9S1805 - GBA2 GBA2 - D9S1804 - D9S1794 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 3639 - 927 - 2013 23250751
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiensAdultNM_020944
     heart   lowly Mus musculusAdultNM_172692
    Digestiveintestinelarge intestinecolon lowly Homo sapiensAdultNM_020944
     intestinesmall intestine  lowly Homo sapiensAdultNM_020944
     liver   highly Mus musculusAdultNM_172692
     liver   lowly Homo sapiensAdultNM_020944
    Lymphoid/Immunespleen   lowly Homo sapiensAdultNM_020944
     thymus   lowly Homo sapiensAdultNM_020944
    Nervousbrainmidbrain    Homo sapiens
     brainlimbic systemhippocampus   Homo sapiens
     brain   highly Mus musculusAdultNM_172692
     brainforebraincerebral cortex   Homo sapiens
     brain   highly Homo sapiensAdultNM_020944
    Reproductivefemale systemplacenta  highly Homo sapiensAdultNM_020944
     male systemmale genital tractepididymis moderately Mus musculusAdultNM_172692
     male systemtestis  highly Mus musculusAdultNM_172692
    Respiratorylung   lowly Homo sapiensAdultNM_020944
     lung   moderately Mus musculusAdultNM_172692
    Urinarykidney   lowly Mus musculusAdultNM_172692
     kidney   highly Homo sapiensAdultNM_020944
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly Homo sapiensNM_020944
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte Homo sapiensNM_020944
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text liver, brain, placenta
    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