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Aliases for GBA2 Gene

Aliases for GBA2 Gene

  • Glucosidase, Beta (Bile Acid) 2 2 3
  • Non-Lysosomal Glucosylceramidase 2 3
  • Beta-Glucocerebrosidase 2 3 4
  • Glucosylceramidase 2 3 4
  • EC 3.2.1.45 4 64
  • KIAA1605 4 6
  • NLGase 3 4
  • SPG46 3 6
  • Spastic Paraplegia 46 (Autosomal Recessive) 2
  • Bile Acid Beta-Glucosidase 2
  • Beta-Glucosidase 2 4
  • AD035 3

External Ids for GBA2 Gene

Previous Symbols for GBA2 Gene

  • SPG46

Summaries for GBA2 Gene

Entrez Gene Summary for GBA2 Gene

  • This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]

GeneCards Summary for GBA2 Gene

GBA2 (Glucosidase, Beta (Bile Acid) 2) is a Protein Coding gene. Diseases associated with GBA2 include spastic paraplegia 46, autosomal recessive and splenic sequestration. Among its related pathways are Sphingolipid metabolism and Sphingolipid metabolism. GO annotations related to this gene include beta-glucosidase activity and glucosylceramidase activity.

UniProtKB/Swiss-Prot for GBA2 Gene

  • Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide (GlcCer) to free glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo. Plays a role in central nevous system development. Required for proper formation of motor neuron axons.

Tocris Summary for GBA2 Gene

  • Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, alpha- and beta-glucosidase (EC numbers 3.2.1.20 and 3.2.1.21 respectively), which are both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose respectively.

Gene Wiki entry for GBA2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GBA2 Gene

Genomics for GBA2 Gene

Genomic Location for GBA2 Gene

Start:
35,736,862 bp from pter
End:
35,749,228 bp from pter
Size:
12,367 bases
Orientation:
Minus strand

Genomic View for GBA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GBA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GBA2 Gene

Proteins for GBA2 Gene

  • Protein details for GBA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCG7-GBA2_HUMAN
    Recommended name:
    Non-lysosomal glucosylceramidase
    Protein Accession:
    Q9HCG7
    Secondary Accessions:
    • D3DRP2
    • Q5TCV6
    • Q96A51
    • Q96LY1
    • Q96SJ2
    • Q9H2L8

    Protein attributes for GBA2 Gene

    Size:
    927 amino acids
    Molecular mass:
    104649 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG44660.1; Type=Frameshift; Positions=649, 691; Evidence={ECO:0000305}; Sequence=BAB13431.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GBA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GBA2 Gene

Proteomics data for GBA2 Gene at MOPED

Selected DME Specific Peptides for GBA2 Gene

Post-translational modifications for GBA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GBA2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for GBA2 Gene

Protein Domains for GBA2 Gene

UniProtKB/Swiss-Prot:

GBA2_HUMAN
Family:
  • Belongs to the non-lysosomal glucosylceramidase family.:
    • Q9HCG7
genes like me logo Genes that share domains with GBA2: view

No data available for Gene Families for GBA2 Gene

Function for GBA2 Gene

Molecular function for GBA2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=1.7 uM for 3-beta-D-glucosido-lithocholic {ECO:0000269 PubMed:9111029}; KM=6.2 uM for 3-beta-D-glucosido-chenodeoxycholic {ECO:0000269 PubMed:9111029}; KM=210 uM for beta-D-glucoside {ECO:0000269 PubMed:9111029};
UniProtKB/Swiss-Prot CatalyticActivity: D-glucosyl-N-acylsphingosine + H(2)O = D-glucose + N-acylsphingosine.
UniProtKB/Swiss-Prot EnzymeRegulation: Enzymatic activity is dependent on membrane association and requires the presence of lipids.
UniProtKB/Swiss-Prot Function: Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide (GlcCer) to free glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo. Plays a role in central nevous system development. Required for proper formation of motor neuron axons.

Enzyme Numbers (IUBMB) for GBA2 Gene

Gene Ontology (GO) - Molecular Function for GBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004348 glucosylceramidase activity IEA --
GO:0008422 beta-glucosidase activity IDA 11489889
genes like me logo Genes that share ontologies with GBA2: view
genes like me logo Genes that share phenotypes with GBA2: view

Animal Models for GBA2 Gene

MGI Knock Outs for GBA2:

miRNA for GBA2 Gene

miRTarBase miRNAs that target GBA2

No data available for Transcription Factor Targeting and HOMER Transcription for GBA2 Gene

Localization for GBA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GBA2 Gene

Endoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side. Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side. Note=Not localized to lipid rafts. {ECO:0000269 PubMed:17105727}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GBA2 Gene COMPARTMENTS Subcellular localization image for GBA2 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 4
cytosol 2
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005790 smooth endoplasmic reticulum TAS 11489889
GO:0005794 Golgi apparatus --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with GBA2: view

Pathways for GBA2 Gene

genes like me logo Genes that share pathways with GBA2: view

Interacting Proteins for GBA2 Gene

Gene Ontology (GO) - Biological Process for GBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006665 sphingolipid metabolic process TAS --
GO:0006680 glucosylceramide catabolic process IEA --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0008206 bile acid metabolic process TAS 11489889
GO:0008219 cell death --
genes like me logo Genes that share ontologies with GBA2: view

Compounds for GBA2 Gene

(5) Tocris Compounds for GBA2 Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride alpha-Mannosidase I inhibitor [73465-43-7]
1-Deoxynojirimycin Glucosidase I and II inhibitor [19130-96-2]
Kifunensine Inhibitor of class I alpha-mannosidases [109944-15-2]
Miglitol alpha-glucosidase inhibitor [72432-03-2]
OGT 2115 Antiangiogenic. Heparanase inhibitor [853929-59-6]

(521) HMDB Compounds for GBA2 Gene

Compound Synonyms Cas Number PubMed IDs
3-Dehydrosphinganine
  • 1-Hydroxy-2-amino-3-oxo-octadecane
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
244215-65-4
genes like me logo Genes that share compounds with GBA2: view

Transcripts for GBA2 Gene

Unigene Clusters for GBA2 Gene

Glucosidase, beta (bile acid) 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GBA2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b · 12c · 12d · 12e ·
SP1: -
SP2: - -
SP3: - -
SP4:
SP5:
SP6: -
SP7: - - - - - - - - - - - - - - - - - - - -
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 12f ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a · 15b · 15c · 15d ^ 16a · 16b · 16c ^ 17
SP1: -
SP2: - -
SP3:
SP4:
SP5: - -
SP6: - - -
SP7: - - - -
SP8: - - -
SP9: -
SP10:
SP11:
SP12: - - - - - - - - - - -

Relevant External Links for GBA2 Gene

GeneLoc Exon Structure for
GBA2
ECgene alternative splicing isoforms for
GBA2

Expression for GBA2 Gene

mRNA expression in normal human tissues for GBA2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GBA2 Gene

SOURCE GeneReport for Unigene cluster for GBA2 Gene Hs.443134

mRNA Expression by UniProt/SwissProt for GBA2 Gene

Q9HCG7-GBA2_HUMAN
Tissue specificity: Widely expressed. Highly expressed in brain, heart, skeletal muscle, kidney and placenta and expressed at lower level in liver.
genes like me logo Genes that share expressions with GBA2: view

Orthologs for GBA2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GBA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GBA2 36
  • 99.68 (n)
  • 99.46 (a)
GBA2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GBA2 36
  • 88.15 (n)
  • 87.9 (a)
GBA2 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GBA2 36
  • 89.91 (n)
  • 89.95 (a)
GBA2 37
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gba2 36
  • 87.07 (n)
  • 87.58 (a)
Gba2 16
Gba2 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GBA2 37
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GBA2 37
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gba2 36
  • 87.23 (n)
  • 89.7 (a)
chicken
(Gallus gallus)
Aves GBA2 36
  • 69.71 (n)
  • 68.21 (a)
GBA2 37
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GBA2 37
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gba2 36
  • 70.04 (n)
  • 71.81 (a)
zebrafish
(Danio rerio)
Actinopterygii gba2 36
  • 64.57 (n)
  • 67.03 (a)
gba2 37
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008830 36
  • 52.53 (n)
  • 47.13 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG33090 36
  • 52.59 (n)
  • 45.28 (a)
CG33090 37
  • 38 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea hpo-13 36
  • 48.59 (n)
  • 41.85 (a)
hpo-13 37
  • 35 (a)
OneToMany
R08F11.1 37
  • 36 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G24180 36
  • 51.11 (n)
  • 46.55 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.5310 36
rice
(Oryza sativa)
Liliopsida Os.27796 36
Os10g0473400 36
  • 50.8 (n)
  • 43.29 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.20469 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8379 37
  • 43 (a)
OneToOne
Species with no ortholog for GBA2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for GBA2 Gene

ENSEMBL:
Gene Tree for GBA2 (if available)
TreeFam:
Gene Tree for GBA2 (if available)

Paralogs for GBA2 Gene

Pseudogenes.org Pseudogenes for GBA2 Gene

genes like me logo Genes that share paralogs with GBA2: view

No data available for Paralogs for GBA2 Gene

Variants for GBA2 Gene

Sequence variations from dbSNP and Humsavar for GBA2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs1885375 -- 35,741,534(+) ATCTC(A/G)TGATC intron-variant
rs3750434 -- 35,739,879(+) AGAGT(A/G)GGATC intron-variant
rs3829081 -- 35,739,456(+) GAATT(C/G)CTGCT intron-variant
rs3833700 -- 35,739,118(+) GGGAG(-/C)AGACA intron-variant
rs11539261 -- 35,739,355(-) ATCAT(G/T)CTCTG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GBA2 Gene

Variant ID Type Subtype PubMed ID
dgv8168n71 CNV Gain 21882294

Relevant External Links for GBA2 Gene

HapMap Linkage Disequilibrium report
GBA2
Human Gene Mutation Database (HGMD)
GBA2

Disorders for GBA2 Gene

(1) OMIM Diseases for GBA2 Gene (609471)

UniProtKB/Swiss-Prot

GBA2_HUMAN
  • Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409]: A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging. {ECO:0000269 PubMed:23332916, ECO:0000269 PubMed:23332917}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for GBA2 Gene

genes like me logo Genes that share disorders with GBA2: view

Publications for GBA2 Gene

  1. Molecular cloning and expression of human bile acid beta -glucosidase. (PMID: 11489889) Matern H. … Matern S. (J. Biol. Chem. 2001) 2 3 4 23
  2. Identification of the non-lysosomal glucosylceramidase as beta- glucosidase 2. (PMID: 17105727) Boot R.G. … Aerts J.M.F.G. (J. Biol. Chem. 2007) 3 4 23
  3. Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. (PMID: 23332916) Martin E. … Stevanin G. (Am. J. Hum. Genet. 2013) 2 3 4
  4. Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. (PMID: 23332917) Hammer M.B. … Singleton A.B. (Am. J. Hum. Genet. 2013) 2 3 4
  5. Purification and characterization of a microsomal bile acid beta- glucosidase from human liver. (PMID: 9111029) Matern H. … Matern S. (J. Biol. Chem. 1997) 3 4 23

Products for GBA2 Gene

Sources for GBA2 Gene

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