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Aliases for GBA Gene

Aliases for GBA Gene

  • Glucosylceramidase Beta 2 3 5
  • D-Glucosyl-N-Acylsphingosine Glucohydrolase 3 4
  • Glucosidase, Beta, Acid 2 3
  • Beta-Glucocerebrosidase 3 4
  • Acid Beta-Glucosidase 3 4
  • Glucosylceramidase 2 3
  • Imiglucerase 3 4
  • Alglucerase 3 4
  • EC 3.2.1.45 4 56
  • Beta-GC 3 4
  • GLUC 3 4
  • Glucosidase, Beta; Acid (Includes Glucosylceramidase) 2
  • Glucosylceramidase-Like Protein 3
  • Lysosomal Glucocerebrosidase 3
  • 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 Other glycan degradation and Metabolism. Gene Ontology (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

Additional gene information for GBA Gene

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

Genomics for GBA Gene

GeneHancer (GH) Regulatory Elements for GBA Gene

Promoters and enhancers for GBA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I155242 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 582.4 +0.6 620 2.9 FEZF1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 GBA KHDC4 GON4L CLK2 ENSG00000271267 MSTO1 MSTO2P RUSC1-AS1 THBS3 SHC1
GH01I155240 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +3.4 3443 1.6 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF213 E2F8 ZNF143 FOS GBA RUSC1-AS1 KRTCAP2 KHDC4 GON4L ENSG00000271267 CLK2 MSTO1 HCN3 MSTO2P
GH01I155260 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 33.1 -17.2 -17178 3 HDGF PKNOX1 CLOCK SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 IRF4 SCAMP3 CLK2 KHDC4 ENSG00000271267 GON4L GBA RUSC1-AS1 THBS3 MSTO2P MSTO1
GH01I155272 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 30.6 -28.6 -28557 2.3 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 YY1 POLR2B CLK2 GBA PYGO2 PKLR LOC101928120 FDPS RUSC1 RUSC1-AS1 MIR555 MSTO2P
GH01I155276 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 31.3 -32.9 -32949 2.2 PKNOX1 ATF1 ARID4B SIN3A GLIS2 E2F8 ZNF143 KLF7 ATF7 SP3 HCN3 CLK2 GBA GON4L KHDC4 SHC1 YY1AP1 THBS3 ENSG00000271267 FLAD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GBA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GBA gene promoter:

Genomic Locations for GBA Gene

Genomic Locations for GBA Gene
chr1:155,234,448-155,244,862
(GRCh38/hg38)
Size:
10,415 bases
Orientation:
Minus strand
chr1:155,204,239-155,214,653
(GRCh37/hg19)

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:
    P04062-GLCM_HUMAN
    Recommended name:
    Glucosylceramidase
    Protein Accession:
    P04062
    Secondary Accessions:
    • A8K796
    • B7Z5G2
    • B7Z6S1
    • J3KQG4
    • J3KQK9
    • Q16545
    • Q4VX22
    • Q6I9R6
    • Q9UMJ8

    Protein attributes for GBA Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for GBA Gene

Selected DME Specific Peptides for GBA Gene

P04062:
  • GWTDWNLALNPEGGPNWVRNFVDSPIIVDI
  • PDGSAVVVVLNRSS
  • DPEAAKYVHGIAVHWY
  • PKSFGYSSVVCVCN
  • NLLLKSYFSEEGI
  • ASPWTSPTWLKTNGAVNGKG
  • YSIHTYLW
  • KFQKVKGFGGAMTDA
  • LLMLDDQRLLLP
  • VNGKGSLKGQPGDI
  • FYKQPMFYHLGHFSKFIPEGSQRV
  • GFLETISP
  • PALGTFSRYESTR
  • ESTRSGRRMELS
  • GLLLTLQP
  • YTYADTP
  • YFVKFLDAYA
  • FWAVTAENEP

Post-translational modifications for GBA Gene

  • Glycosylation at isoforms=5, 258, isoforms=4, 5, 298, posLast=185185, isoforms=3, 4, 5, 2309, and posLast=501501

Domains & Families for GBA Gene

Gene Families for GBA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for GBA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P04062

UniProtKB/Swiss-Prot:

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

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

Phenotypes From GWAS Catalog for GBA Gene

Gene Ontology (GO) - Molecular Function for GBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004348 glucosylceramidase activity IMP 21700325
GO:0005102 receptor binding ISS 18022370
GO:0005515 protein binding IPI 21098288
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with GBA: view
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:

Animal Model Products

Clone Products

No data available for 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GBA gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 2
endoplasmic reticulum 2
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1

Gene Ontology (GO) - Cellular Components for GBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane TAS,ISS --
GO:0016020 membrane IEA --
GO:0043202 lysosomal lumen ISS 18022370
genes like me logo Genes that share ontologies with GBA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GBA Gene

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:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0006680 glucosylceramide catabolic process IMP 19279011
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0007005 NOT mitochondrion organization IMP 25456120
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

(38) 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
D-glucose Approved Pharma 0
Water Approved Pharma 0
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 91
(2R,3R,4R,5S)-2-(HYDROXYMETHYL)-1-NONYLPIPERIDINE-3,4,5-TRIOL Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
glucosylceramide
  • 1-O-b-D-Glucopyranosyl-Ceramide
  • 1-O-beta-delta-Glucopyranosyl-Ceramide
  • Ganglioside GL1a
  • Gaucher cerebroside
  • Glc-beta1->1'Cer
85305-87-9
1,4-beta-D-Glucan
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

(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
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases 210110-90-0
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:

Clone Products

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: - -
SP12:
SP13: - -
SP14:

Relevant External Links for GBA Gene

GeneLoc Exon Structure for
GBA
ECgene alternative splicing isoforms for
GBA

Expression for GBA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for GBA Gene

NURSA nuclear receptor signaling pathways regulating expression of GBA Gene:

GBA

SOURCE GeneReport for Unigene cluster for GBA Gene:

Hs.282997

Evidence on tissue expression from TISSUES for GBA Gene

  • Skin(4.8)
  • Nervous system(4.8)
  • Liver(4.5)
  • Blood(4)
  • Lymph node(3.4)
  • Kidney(3.1)
  • Bone marrow(2.9)
  • Spleen(2.7)
  • Lung(2.4)
  • Intestine(2.2)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GBA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • skull
  • tongue
Thorax:
  • aorta
  • bronchus
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
  • placenta
  • urethra
  • urinary bladder
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GBA: view

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
chimpanzee
(Pan troglodytes)
Mammalia GBA 33 34
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia GBA 33 34
  • 88.74 (n)
cow
(Bos Taurus)
Mammalia GBA 33 34
  • 87.87 (n)
rat
(Rattus norvegicus)
Mammalia Gba 33
  • 85.11 (n)
mouse
(Mus musculus)
Mammalia Gba 33 16 34
  • 84.08 (n)
oppossum
(Monodelphis domestica)
Mammalia GBA 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC101748171 33
  • 69.22 (n)
-- 34
  • 58 (a)
OneToMany
-- 34
  • 58 (a)
OneToMany
-- 34
  • 55 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 61 (a)
OneToMany
-- 34
  • 54 (a)
OneToMany
-- 34
  • 53 (a)
OneToMany
-- 34
  • 51 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.29001 33
zebrafish
(Danio rerio)
Actinopterygii gba 33 34
  • 61.54 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9605 33
fruit fly
(Drosophila melanogaster)
Insecta CG31148 34
  • 31 (a)
OneToMany
CG31414 34
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gba-4 33 34
  • 48.72 (n)
Y4C6B.6 35
  • 42 (a)
gba-3 34
  • 41 (a)
OneToMany
C33C12.3 35
  • 40 (a)
C33C12.8 35
  • 38 (a)
gba-1 34
  • 36 (a)
OneToMany
gba-2 34
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04395 33
  • 42.7 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.912 33
Species where no ortholog for GBA was found in the sources mined by GeneCards:
  • 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

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

Paralogs for GBA Gene

Pseudogenes.org 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 Variation AA Info Type
rs104886460 pathogenic, Acute neuronopathic Gaucher's disease, Gaucher disease, not provided, Gaucher's disease, type 1 155,240,629(-) C/A/T intron_variant, splice_donor_variant
rs1057519020 uncertain-significance, Subacute neuronopathic Gaucher's disease 155,237,505(-) G/C coding_sequence_variant, missense_variant
rs1057519356 uncertain-significance, Parkinson disease, late-onset 155,235,260(-) C/G coding_sequence_variant, missense_variant
rs1057519357 uncertain-significance, Parkinson disease, late-onset, disease (GD) [MIM:230800] 155,235,792(-) G/A coding_sequence_variant, missense_variant
rs1057519358 uncertain-significance, Parkinson disease, late-onset 155,236,249(-) A/G coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv107e212 CNV gain 25503493
dgv3n68 CNV loss 17160897
dgv55e214 CNV gain 21293372
esv2421617 CNV duplication 20811451
esv2758971 CNV gain 17122850
esv28935 CNV gain 19812545
esv3578198 CNV loss 25503493
esv3587619 CNV loss 21293372
nsv1008748 CNV loss 25217958
nsv1011773 CNV gain 25217958
nsv1161687 CNV deletion 26073780
nsv2999 CNV insertion 18451855
nsv436038 CNV insertion 17901297
nsv470741 CNV loss 18288195
nsv547963 CNV loss 21841781
nsv8469 CNV gain 18304495
nsv8480 CNV gain 18304495
nsv946412 CNV duplication 23825009
nsv952213 CNV deletion 24416366

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)

Additional Variant Information for GBA Gene

Human Gene Mutation Database (HGMD)
GBA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GBA

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

Disorders for GBA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
gaucher disease, type i
  • gd i
gaucher disease, type ii
  • gd ii
gaucher disease, type iii
  • gd iii
gaucher disease, perinatal lethal
  • gaucher disease, collodion type
gaucher disease, type iiic
  • gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GBA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GLCM_HUMAN
  • 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:15826241, ECO:0000269 PubMed:16293621, ECO:0000269 PubMed:17620502, ECO:0000269 PubMed:18332251, ECO:0000269 PubMed:1972019, ECO:0000269 PubMed:1974409, ECO:0000269 PubMed:19846850, 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

Additional Disease Information for GBA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for GBA Gene

  1. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. (PMID: 19286695) Neumann J … Wood NW (Brain : a journal of neurology 2009) 3 4 22 44 58
  2. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. (PMID: 19846850) Sidransky E … Ziegler SG (The New England journal of medicine 2009) 3 4 22 44 58
  3. 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 LN … Louis ED (Parkinsonism & related disorders 2010) 3 22 44 58
  4. Association of glucocerebrosidase mutations with dementia with lewy bodies. (PMID: 19433657) Clark LN … Marder K (Archives of neurology 2009) 3 22 44 58
  5. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece. (PMID: 19383421) Kalinderi K … Fidani L (Neuroscience letters 2009) 3 22 44 58

Products for GBA Gene