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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
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
    Physical map
    FANCG 9p13 Fanconi anemia, complementation group G PIGO 9p13.2 phosphatidylinositol glycan, class O STOML2 9p13 stomatin (EPB72)-like 2 FLJ11560 9p13.2 hypothetical protein FLJ11560 LOC347241 9p13.2 similar to Zinc finger protein 492 UNC13B 9p12-p11 unc-13 homolog B (C. elegans) PRO0038 9p13.2 PRO0038 protein LOC389717 9 hypothetical gene supported by BC035229; BC047452 RUSC2 9p13.2 RUN and SH3 domain containing 2 LOC138729 9p13.2 hypothetical gene LOC138729 TESK1 9p13 testis-specific kinase 1 CD72 9p13.1 CD72 antigen SIT 9p13-p12 CD72 antigen MGC31967 9p13.2 hypothetical protein MGC31967 FLJ14642 9p13.2 hypothetical protein FLJ14642 CA9 9p13-p12 carbonic anhydrase IX TPM2 9p13.2-p13.1 tropomyosin 2 (beta) TLN1 9p13 talin 1 CREB3 9p13.2 cAMP responsive element binding protein 3 (luman) GBA2 9p13.3-p11.2 glucosidase, beta (bile acid) 2 KIAA0258 9pter-p22.1 KIAA0258 protein NPR2 9p21-p12 natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) SPAG8 9p13-p12 sperm associated antigen 8 HINT2 9p11.2 histidine triad nucleotide binding protein 2 LOC392307 9 similar to RIKEN cDNA 4930412F15 gene NGX6 9p13.1 nasopharyngeal carcinoma related protein LOC389718 9 LOC389718 LOC392308 9 similar to Olfactory receptor 70 LOC392309 9 similar to Olfactory receptor 13J1 LOC392310 9 similar to Phosphoglycerate mutase 1 (Phosphoglycerate mutase isozyme B) (PGAM-B) (BPG-dependent PGAM 1) OR2S2 9p13.3-p13.1 olfactory receptor, family 2, subfamily S, member 2 LOC389719 9 hypothetical gene supported by M24070; NM_004559 LOC392311 9 similar to seven transmembrane helix receptor OR13C7P 9 olfactory receptor, family 13, subfamily C, member 7 pseudogene LOC392313 9 similar to olfactory receptor RECK 9p13-p12 reversion-inducing-cysteine-rich protein with kazal motifs C9orf19 9p12-p13 chromosome 9 open reading frame 19 CCIN 9p13-p12 calicin CLTA 9p13-p12 clathrin, light polypeptide (Lca) GNE 9p13-p12 clathrin, light polypeptide (Lca) LOC392314 9 similar to high mobility group protein homolog HMG4 RNF38 9p13-p12 ring finger protein 38
    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