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Aliases for GBA2 Gene

Aliases for GBA2 Gene

  • Glucosylceramidase Beta 2 2 3
  • Glucosidase, Beta (Bile Acid) 2 2 3 5
  • Beta-Glucocerebrosidase 2 3 4
  • Glucosylceramidase 2 3 4
  • EC 3.2.1.45 4 63
  • NLGase 3 4
  • Spastic Paraplegia 46 (Autosomal Recessive) 2
  • Non-Lysosomal Glucosylceramidase 2
  • Bile Acid Beta-Glucosidase 2
  • Beta-Glucosidase 2 4
  • KIAA1605 4
  • AD035 3
  • SPG46 3

External Ids for GBA2 Gene

Previous HGNC Symbols for GBA2 Gene

  • SPG46

Previous GeneCards Identifiers for GBA2 Gene

  • GC09M036049
  • GC09M035906

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 (Glucosylceramidase Beta 2) is a Protein Coding gene. Diseases associated with GBA2 include spastic paraplegia 46, autosomal recessive and spastic paraplegia 46. Among its related pathways are 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, 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.

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

Regulatory Elements for GBA2 Gene

Promoters for GBA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GBA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GBA2 Gene

Chromosome:
9
Start:
35,736,866 bp from pter
End:
35,749,228 bp from pter
Size:
12,363 bases
Orientation:
Minus strand

Genomic View for GBA2 Gene

Genes around GBA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GBA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
REFSEQ proteins:

Domains & Families for GBA2 Gene

Protein Domains for GBA2 Gene

Suggested Antigen Peptide Sequences for GBA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HCG7

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for GBA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GBA2 Gene

MGI Knock Outs for GBA2:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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
plasma membrane 5
golgi apparatus 4
cytosol 3
lysosome 2
nucleus 2
vacuole 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005790 smooth endoplasmic reticulum TAS 11489889
genes like me logo Genes that share ontologies with GBA2: view

Pathways & Interactions 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:0006680 glucosylceramide catabolic process IEA --
GO:0008206 bile acid metabolic process TAS 11489889
GO:0016139 glycoside catabolic process NAS 11489889
genes like me logo Genes that share ontologies with GBA2: view

No data available for SIGNOR curated interactions for GBA2 Gene

Drugs & Compounds for GBA2 Gene

(5) Drugs for GBA2 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 80
Sphingosine Experimental Pharma 0
1-Deoxynojirimycin Experimental Pharma Glucosidase I and II inhibitor 0
sphinganine Pharma 0
Sphingosine-1-phosphate Pharma Full agonist, Agonist Endogenous agonist at S1P1-5 0

(469) Additional Compounds for GBA2 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • (2S)-2-amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • 2-Amino-1-hydroxy-3-Octadecanone
  • 3-Dehydro-D-sphinganine
  • 3-Dehydrosphinganine
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4

(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
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Castanospermine Glucosidases alpha and beta inhibitor 79831-76-8
OGT 2115 Antiangiogenic. Heparanase inhibitor 853929-59-6
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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GBA2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.4), Retina (15.8), and Frontal cortex (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GBA2: view

Protein tissue co-expression partners for GBA2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for GBA2 Gene

Orthologs for GBA2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GBA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GBA2 35
  • 88.15 (n)
  • 87.9 (a)
GBA2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GBA2 35
  • 89.91 (n)
  • 89.95 (a)
GBA2 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gba2 35
  • 87.07 (n)
  • 87.58 (a)
Gba2 16
Gba2 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GBA2 35
  • 99.68 (n)
  • 99.46 (a)
GBA2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gba2 35
  • 87.23 (n)
  • 89.7 (a)
oppossum
(Monodelphis domestica)
Mammalia GBA2 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GBA2 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves GBA2 35
  • 69.71 (n)
  • 68.21 (a)
GBA2 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GBA2 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gba2 35
  • 70.04 (n)
  • 71.81 (a)
zebrafish
(Danio rerio)
Actinopterygii gba2 35
  • 64.57 (n)
  • 67.03 (a)
gba2 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008830 35
  • 52.53 (n)
  • 47.13 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG33090 35
  • 52.59 (n)
  • 45.28 (a)
CG33090 36
  • 38 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea hpo-13 35
  • 48.59 (n)
  • 41.85 (a)
hpo-13 36
  • 35 (a)
OneToMany
R08F11.1 36
  • 36 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G24180 35
  • 51.11 (n)
  • 46.55 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.5310 35
rice
(Oryza sativa)
Liliopsida Os.27796 35
Os10g0473400 35
  • 50.8 (n)
  • 43.29 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.20469 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8379 36
  • 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
VAR_069634 Spastic paraplegia 46, autosomal recessive (SPG46)
VAR_069635 Spastic paraplegia 46, autosomal recessive (SPG46)
rs1885375 -- 35,741,534(+) ATCTC(A/G)TGATC intron-variant
rs3833700 -- 35,739,118(+) GGGAG(-/C)AGACA intron-variant
rs3750434 -- 35,739,879(+) AGAGT(A/G)GGATC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv8168n71 CNV Gain 21882294

Variation tolerance for GBA2 Gene

Residual Variation Intolerance Score: 23.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.37; 70.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GBA2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GBA2 Gene

Disorders for GBA2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for GBA2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 46, autosomal recessive
  • spg46
spastic paraplegia 46
  • spastic paraplegia 46, autosomal recessive
autosomal recessive cerebellar ataxia with late-onset spasticity
  • autosomal recessive cerebellar ataxia due to gba2 deficiency
splenic sequestration
spastic ataxia
- elite association - COSMIC cancer census association via MalaCards
Search GBA2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for GBA2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GBA2
genes like me logo Genes that share disorders with GBA2: view

No data available for Genatlas for GBA2 Gene

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 67
  2. 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
  3. 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. 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 23
  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 23

Products for GBA2 Gene

Sources for GBA2 Gene

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