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Aliases for GBA Gene

Aliases for GBA Gene

  • Glucosylceramidase Beta 2 3
  • Glucosidase, Beta, Acid 2 3 5
  • D-Glucosyl-N-Acylsphingosine Glucohydrolase 3 4
  • Beta-Glucocerebrosidase 3 4
  • Acid Beta-Glucosidase 3 4
  • Imiglucerase 3 4
  • Alglucerase 3 4
  • EC 4 63
  • Beta-GC 3 4
  • GLUC 3 4
  • Glucosidase, Beta; Acid (Includes Glucosylceramidase) 2
  • Glucosylceramidase-Like Protein 3
  • Lysosomal Glucocerebrosidase 3
  • Glucosylceramidase 2
  • GBA1 3
  • GCB 3
  • GC 4

External Ids for GBA Gene

Previous HGNC Symbols for GBA Gene

  • GLUC

Previous GeneCards Identifiers for GBA Gene

  • GC01P152907
  • GC01M150944
  • GC01M151962
  • GC01M152421
  • GC01M152017
  • GC01M153470
  • GC01M155204
  • GC01M126557

Summaries for GBA Gene

Entrez Gene Summary for GBA Gene

  • This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

GeneCards Summary for GBA Gene

GBA (Glucosylceramidase Beta) is a Protein Coding gene. Diseases associated with GBA include Gaucher Disease, Type I and Gaucher Disease, Type Ii. Among its related pathways are Sphingolipid metabolism and Chaperonin-mediated protein folding. GO annotations related to this gene include receptor binding and glucosylceramidase activity.

Tocris Summary for GBA 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 GBA Gene

No data available for UniProtKB/Swiss-Prot , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GBA Gene

Genomics for GBA Gene

Regulatory Elements for GBA Gene

Enhancers for GBA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GBA on UCSC Golden Path with GeneCards custom track

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

ENSRs around GBA on UCSC Golden Path with GeneCards custom track

Genomic Location for GBA Gene

155,234,448 bp from pter
155,244,862 bp from pter
10,415 bases
Minus strand

Genomic View for GBA Gene

Genes around GBA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GBA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GBA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GBA Gene

Proteins for GBA Gene

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

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A8K796
    • B7Z5G2
    • B7Z6S1
    • J3KQG4
    • J3KQK9
    • Q16545
    • Q4VX22
    • Q6I9R6
    • Q9UMJ8

    Protein attributes for GBA Gene

    536 amino acids
    Molecular mass:
    59716 Da
    Quaternary structure:
    • Interacts with saposin-C. Interacts with SCARB2.

    Three dimensional structures from OCA and Proteopedia for GBA Gene

    Alternative splice isoforms for GBA Gene


neXtProt entry for GBA Gene

Proteomics data for GBA Gene at MOPED

Post-translational modifications for GBA Gene

  • Glycosylation at Asn 58, Asn 98, Asn 185, Asn 309, and Asn 501
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for GBA (Glucosylceramidase/GBA)
  • Abcam antibodies for GBA

Domains & Families for GBA Gene

Suggested Antigen Peptide Sequences for GBA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyl hydrolase 30 family.
  • Belongs to the glycosyl hydrolase 30 family.
genes like me logo Genes that share domains with GBA: view

No data available for Gene Families for GBA Gene

Function for GBA Gene

Molecular function for GBA Gene

GENATLAS Biochemistry:
glucosidase,beta,acid,55.6kDa,lysosomal hydrolyzing glucosylceramide,penultimate intermediate in the degradative pathway of complex glycolipids
UniProtKB/Swiss-Prot CatalyticActivity:
D-glucosyl-N-acylsphingosine + H(2)O = D-glucose + N-acylsphingosine.
UniProtKB/Swiss-Prot EnzymeRegulation:
Requires saposin-C and anionic phospholipids for activity.

Enzyme Numbers (IUBMB) for GBA Gene

genes like me logo Genes that share phenotypes with GBA: view

Human Phenotype Ontology for GBA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GBA Gene

MGI Knock Outs for GBA:

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for GBA Gene

Localization for GBA Gene

Subcellular locations from UniProtKB/Swiss-Prot for GBA Gene

Lysosome membrane; Peripheral membrane protein; Lumenal side. Note=Interaction with saposin-C promotes membrane association. Targeting to lysosomes occurs through an alternative MPR-independent mechanism via SCARB2.

Subcellular locations from

Jensen Localization Image for GBA Gene COMPARTMENTS Subcellular localization image for GBA gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
cytosol 2
endoplasmic reticulum 2
nucleus 2
plasma membrane 2
endosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with GBA: view

Pathways & Interactions for GBA Gene

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

Gene Ontology (GO) - Biological Process for GBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006665 sphingolipid metabolic process IEA --
GO:0006680 glucosylceramide catabolic process IMP 19279011
GO:0009267 cellular response to starvation IEA --
GO:0009268 response to pH IEA --
GO:0016239 positive regulation of macroautophagy IEA --
genes like me logo Genes that share ontologies with GBA: view

No data available for SIGNOR curated interactions for GBA Gene

Drugs & Compounds for GBA Gene

(28) Drugs for GBA Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
velaglucerase alfa Approved, Investigational Pharma Target 0
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 81
(2R,3R,4R,5S)-2-(HYDROXYMETHYL)-1-NONYLPIPERIDINE-3,4,5-TRIOL Experimental Pharma Target 0
2-(Acetylamino)-2-Deoxy-a-D-Glucopyranose Experimental Pharma Target 0
Myo-Inositol Experimental Pharma Target 0

(112) Additional Compounds for GBA Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 1-O-b-D-Glucopyranosyl-Ceramide
  • 1-O-beta-delta-Glucopyranosyl-Ceramide
  • Ganglioside GL1a
  • Gaucher cerebroside
  • Glc-beta1->1'Cer
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
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

(5) Tocris Compounds for GBA 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 GBA: view

Transcripts for GBA Gene

Unigene Clusters for GBA Gene

Glucosidase, beta, acid:
Representative Sequences:

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

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - - - - - -
SP6: - - - - -
SP7: - - - - - -
SP8: - - -
SP9: - - - -
SP10: - -
SP11: - -
SP13: - -

Relevant External Links for GBA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GBA Gene

mRNA expression in normal human tissues for GBA Gene

mRNA differential expression in normal tissues according to GTEx for GBA Gene

This gene is overexpressed in Whole Blood (x6.3).

Protein differential expression in normal tissues from HIPED for GBA Gene

This gene is overexpressed in Bone (23.6) and Bone marrow stromal cell (20.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GBA Gene

SOURCE GeneReport for Unigene cluster for GBA Gene Hs.282997

genes like me logo Genes that share expression patterns with GBA: view

Protein tissue co-expression partners for GBA Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for GBA Gene

Orthologs for GBA Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GBA Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia GBA 35
  • 87.87 (n)
  • 89.18 (a)
GBA 36
  • 89 (a)
(Canis familiaris)
Mammalia GBA 35
  • 88.74 (n)
  • 90.49 (a)
GBA 36
  • 90 (a)
(Mus musculus)
Mammalia Gba 35
  • 84.08 (n)
  • 86.6 (a)
Gba 16
Gba 36
  • 87 (a)
(Pan troglodytes)
Mammalia GBA 35
  • 99.5 (n)
  • 99.44 (a)
GBA 36
  • 98 (a)
(Rattus norvegicus)
Mammalia Gba 35
  • 85.11 (n)
  • 87.77 (a)
(Monodelphis domestica)
Mammalia GBA 36
  • 78 (a)
(Gallus gallus)
Aves LOC101748171 35
  • 69.22 (n)
  • 68.31 (a)
-- 36
  • 55 (a)
-- 36
  • 58 (a)
-- 36
  • 58 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 51 (a)
-- 36
  • 53 (a)
-- 36
  • 54 (a)
-- 36
  • 61 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29001 35
(Danio rerio)
Actinopterygii gba 35
  • 61.54 (n)
  • 57.69 (a)
gba 36
  • 56 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9605 35
fruit fly
(Drosophila melanogaster)
Insecta CG31148 36
  • 31 (a)
CG31414 36
  • 31 (a)
(Caenorhabditis elegans)
Secernentea C33C12.3 37
  • 40 (a)
C33C12.8 37
  • 38 (a)
Y4C6B.6 37
  • 42 (a)
gba-4 35
  • 48.72 (n)
  • 44.15 (a)
gba-1 36
  • 36 (a)
gba-2 36
  • 35 (a)
gba-3 36
  • 41 (a)
gba-4 36
  • 41 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.912 35
bread mold
(Neurospora crassa)
Ascomycetes NCU04395 35
  • 42.7 (n)
  • 27.6 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
Species with no ortholog for GBA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GBA Gene

Gene Tree for GBA (if available)
Gene Tree for GBA (if available)

Paralogs for GBA Gene Pseudogenes for GBA Gene

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

No data available for Paralogs for GBA Gene

Variants for GBA Gene

Sequence variations from dbSNP and Humsavar for GBA Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_003255 Gaucher disease (GD)
VAR_003256 Gaucher disease (GD)
VAR_003257 Gaucher disease (GD)
VAR_003258 Gaucher disease (GD)
VAR_003259 Gaucher disease (GD)

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

Variant ID Type Subtype PubMed ID
dgv3n68 CNV Loss 17160897
dgv132e1 CNV Complex 17122850
nsv470741 CNV Loss 18288195
nsv872457 CNV Loss 21882294
esv28935 CNV Gain 19812545
nsv8469 CNV Gain 18304495
esv2421617 CNV Duplication 20811451
nsv436038 CNV Insertion 17901297
nsv2999 CNV Insertion 18451855
nsv8480 CNV Gain 18304495

Variation tolerance for GBA Gene

Residual Variation Intolerance Score: 31.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.66; 45.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GBA Gene

Human Gene Mutation Database (HGMD)

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

Disorders for GBA Gene

MalaCards: The human disease database

(39) MalaCards diseases for GBA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gaucher disease, type i
  • acid beta-glucosidase deficiency
gaucher disease, type ii
  • gaucher disease type 2
gaucher disease, type iii
  • gaucher disease type 3
parkinson disease, late-onset
  • parkinson disease
gaucher disease, perinatal lethal
  • gaucher disease perinatal lethal
- elite association - COSMIC cancer census association via MalaCards
Search GBA in MalaCards View complete list of genes associated with diseases


  • Gaucher disease (GD) [MIM:230800]: A lysosomal storage disease due to deficient activity of beta-glucocerebrosidase and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset. {ECO:0000269 PubMed:10352942, ECO:0000269 PubMed:10360404, ECO:0000269 PubMed:10447266, ECO:0000269 PubMed:10744424, ECO:0000269 PubMed:10796875, ECO:0000269 PubMed:11933202, ECO:0000269 PubMed:11992489, ECO:0000269 PubMed:12204005, ECO:0000269 PubMed:15292921, ECO:0000269 PubMed:1972019, ECO:0000269 PubMed:1974409, ECO:0000269 PubMed:7627184, ECO:0000269 PubMed:7627192, ECO:0000269 PubMed:7916532, ECO:0000269 PubMed:8076951, ECO:0000269 PubMed:8112750, ECO:0000269 PubMed:8294033, ECO:0000269 PubMed:8432537, ECO:0000269 PubMed:8790604, ECO:0000269 PubMed:8829654, ECO:0000269 PubMed:8829663, ECO:0000269 PubMed:8937765, ECO:0000269 PubMed:9061570, ECO:0000269 PubMed:9153297, ECO:0000269 PubMed:9182788, ECO:0000269 PubMed:9217217, ECO:0000269 PubMed:9279145, ECO:0000269 PubMed:9516376, ECO:0000269 PubMed:9554454, ECO:0000269 PubMed:9554746, ECO:0000269 PubMed:9650766, ECO:0000269 PubMed:9683600}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Gaucher disease 1 (GD1) [MIM:230800]: A form of Gaucher disease characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved. {ECO:0000269 PubMed:10206680, ECO:0000269 PubMed:10340647, ECO:0000269 PubMed:15605411, ECO:0000269 PubMed:8889591, ECO:0000269 Ref.14}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Gaucher disease 2 (GD2) [MIM:230900]: The most severe form of Gaucher disease. It manifests soon after birth, with death generally occurring before patients reach two years of age. {ECO:0000269 PubMed:9637431, ECO:0000269 PubMed:9851895}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Gaucher disease 3 (GD3) [MIM:231000]: A subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease 2. {ECO:0000269 PubMed:8780099}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Gaucher disease 3C (GD3C) [MIM:231005]: A variant of subacute neuronopathic Gaucher disease 3 associated with cardiovascular calcifications. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Gaucher disease perinatal lethal (GDPL) [MIM:608013]: Distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Perinatal lethal Gaucher disease is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.
  • Parkinson disease (PARK) [MIM:168600]: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. {ECO:0000269 PubMed:12847165, ECO:0000269 PubMed:16148263, ECO:0000269 PubMed:19286695}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Genatlas disease for GBA Gene

hydrops fetalis

Relevant External Links for GBA

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GBA: view

Publications for GBA Gene

  1. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. (PMID: 19286695) Neumann J. … Wood N.W. (Brain 2009) 3 4 23 48 67
  2. Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor. (PMID: 19527940) Clark L.N. … Louis E.D. (Parkinsonism Relat. Disord. 2010) 3 23
  3. The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders. (PMID: 20425034) Velayati A. … Sidransky E. (Curr Neurol Neurosci Rep 2010) 3 23
  4. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. (PMID: 18987351) Nichols W.C. … Foroud T. (Neurology 2009) 3 23
  5. Acid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: possible role for ceramide as an anti-inflammatory lipid. (PMID: 19279008) Kitatani K. … Hannun Y.A. (J. Biol. Chem. 2009) 3 23

Products for GBA Gene

Sources for GBA Gene