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 spl... See more...

Aliases for GBA Gene

Aliases for GBA Gene

  • Glucosylceramidase Beta 2 3 5
  • D-Glucosyl-N-Acylsphingosine Glucohydrolase 3 4
  • Lysosomal Acid Glucosylceramidase 3 4
  • Cholesterol Glucosyltransferase 3 4
  • Cholesteryl-Beta-Glucosidase 3 4
  • Beta-Glucocerebrosidase 3 4
  • Glucosidase, Beta, Acid 2 3
  • Acid Beta-Glucosidase 3 4
  • Lysosomal Acid GCase 3 4
  • Imiglucerase 3 4
  • Alglucerase 3 4
  • EC 3.2.1.45 4 52
  • Beta-GC 3 4
  • SGTase 3 4
  • GLUC 3 4
  • Glucosidase, Beta; Acid (Includes Glucosylceramidase) 2
  • Glucosylceramidase-Like Protein 3
  • Lysosomal Glucocerebrosidase 3
  • Glucosylceramidase 2
  • EC 3.2.1.104 4
  • EC 2.4.1.- 4
  • 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. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and glucosylceramidase activity.

UniProtKB/Swiss-Prot Summary for GBA Gene

  • Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramide/GlcCer into free ceramide and glucose (PubMed:9201993, PubMed:24211208). Thereby, plays a central role in the degradation of complex lipids and the turnover of cellular membranes (PubMed:27378698). Through the production of ceramides, participates to the PKC-activated salvage pathway of ceramide formation (PubMed:19279011). Also plays a role in cholesterol metabolism (PubMed:24211208, PubMed:26724485). May either catalyze the glucosylation of cholesterol, through a transglucosylation reaction that transfers glucose from glucosylceramide to cholesterol (PubMed:24211208, PubMed:26724485). The short chain saturated C8:0-GlcCer and the mono-unsaturated C18:0-GlcCer being the most effective glucose donors for that transglucosylation reaction (PubMed:24211208). Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl-beta-D-glucoside to ceramide (PubMed:26724485). Finally, may also hydrolyze cholesteryl-beta-D-glucoside to produce D-glucose and cholesterol (PubMed:24211208, PubMed:26724485).

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 , PharmGKB "VIP" Summary , Rfam classification 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
GH01J155240 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 535.4 +1.9 1919 5.5 RXRA ZBTB40 ZNF217 EP300 CTCF ZSCAN5C SIN3A NRF1 TCF12 POLR2G GBA lnc-FAM189B-2 KHDC4 GON4L ENSG00000271267 CLK2 MSTO1 MSTO2P RUSC1-AS1 THBS3
GH01J155260 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 33.1 -17.2 -17178 3 ZBTB40 ZNF217 SIN3A NRF1 MYC TCF12 USF1 POLR2G SP1 NCOR1 NONHSAG003063.2 SCAMP3 lnc-CLK2-2 CLK2 KHDC4 GON4L ENSG00000271267 THBS3 RUSC1-AS1 SHC1
GH01J155272 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 30.6 -28.3 -28339 2.8 HNRNPK ZBTB40 EP300 SIN3A NRF1 MYC POLR2G USF1 NCOR1 PHF8 lnc-HCN3-2 CLK2 GBA PKLR FDPS RUSC1 RUSC1-AS1 MIR555 ASH1L THBS3
GH01J155276 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 31.3 -33.2 -33207 2.7 HNRNPK EP300 CTCF SIN3A NRF1 USF1 SP1 ZNF639 ZIC2 REST HCN3 CLK2 lnc-CLK2-1 GBA MUC1
GH01J155307 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 29 -64.3 -64333 4 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 MYC POLR2G USF1 SP1 FDPS PKLR lnc-PKLR-1 GBA GON4L HCN3 CLK2 FAM189B THBS3 KHDC4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GBA on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GBA

Top Transcription factor binding sites by QIAGEN in the GBA gene promoter:
  • Arnt
  • Bach2
  • c-Myc
  • PPAR-gamma1
  • PPAR-gamma2
  • Sox9

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)
Size:
10,415 bases
Orientation:
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:
    P04062-GLCM_HUMAN
    Recommended name:
    Lysosomal acid 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 (PubMed:10781797). Interacts with SCARB2 (PubMed:18022370). Interacts with TCP1 (PubMed:21098288). May interact with SNCA; may inhibit the glucosylceramidase activity (PubMed:23266198). Interacts with GRN; this interaction prevents aggregation of GBA-SCARB2 complex via interaction with HSPA1A upon stress (PubMed:27789271).
    Miscellaneous:
    • [Isoform Long]: Major isoform.
    • [Isoform Short]: Produced by alternative initiation from a downstream AUG. Two to three times less protein is produced from this downstream AUG.
    • [Isoform 3]: Produced by alternative splicing.

    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 Asn98, Asn185, Asn58, Asn309, and Asn501
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Domains & Families for GBA Gene

Gene Families for GBA Gene

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

Protein Domains for GBA Gene

Blocks:
  • Glycosyl hydrolase family 30 signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GBA Gene

GenScript: Design optimal peptide antigens:
  • Glucosidase, beta (D3DV87_HUMAN)
  • Imiglucerase (GLCM_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramide/GlcCer into free ceramide and glucose (PubMed:9201993, PubMed:24211208). Thereby, plays a central role in the degradation of complex lipids and the turnover of cellular membranes (PubMed:27378698). Through the production of ceramides, participates to the PKC-activated salvage pathway of ceramide formation (PubMed:19279011). Also plays a role in cholesterol metabolism (PubMed:24211208, PubMed:26724485). May either catalyze the glucosylation of cholesterol, through a transglucosylation reaction that transfers glucose from glucosylceramide to cholesterol (PubMed:24211208, PubMed:26724485). The short chain saturated C8:0-GlcCer and the mono-unsaturated C18:0-GlcCer being the most effective glucose donors for that transglucosylation reaction (PubMed:24211208). Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl-beta-D-glucoside to ceramide (PubMed:26724485). Finally, may also hydrolyze cholesteryl-beta-D-glucoside to produce D-glucose and cholesterol (PubMed:24211208, PubMed:26724485).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-glucose; Xref=Rhea:RHEA:13269, ChEBI:CHEBI:4167, ChEBI:CHEBI:15377, ChEBI:CHEBI:22801, ChEBI:CHEBI:52639; EC=3.2.1.45; Evidence={ECO:0000269 PubMed:16293621, ECO:0000269 PubMed:24211208, ECO:0000269 PubMed:9201993}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:13270; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cholesteryl 3-beta-D-glucoside + H2O = cholesterol + D-glucose; Xref=Rhea:RHEA:11956, ChEBI:CHEBI:4167, ChEBI:CHEBI:15377, ChEBI:CHEBI:16113, ChEBI:CHEBI:17495; EC=3.2.1.104; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine + cholesterol = an N-acylsphing-4-enine + cholesteryl 3-beta-D-glucoside; Xref=Rhea:RHEA:58264, ChEBI:CHEBI:16113, ChEBI:CHEBI:17495, ChEBI:CHEBI:22801, ChEBI:CHEBI:52639; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Synergistically activated by saposin-A and saposin-C, two saposin peptides produced by proteolytic processing of prosaposin/PSAP (PubMed:9201993). Saposin-C activates GBA through its recruitment to membranes (PubMed:10781797, PubMed:9201993). The membrane structure and composition in anionic phospholipids are also important for the activition (PubMed:9201993, PubMed:10781797). Activated by PKC in the salvage pathway of ceramide formation (PubMed:19279011). Inhibited by conduritol B epoxide/CBE (PubMed:24211208, PubMed:26724485).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 5.3. {ECO:0000269 PubMed:24211208}; Temperature dependence: Optimum temperature is 43 degrees Celsius. {ECO:0000269 PubMed:24211208};
GENATLAS Biochemistry:
glucosidase,beta,acid,55.6kDa,lysosomal hydrolyzing glucosylceramide,penultimate intermediate in the degradative pathway of complex glycolipids

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 15916907
GO:0005102 signaling receptor binding ISS 18022370
GO:0005124 scavenger receptor binding IPI 25202012
GO:0005515 protein binding IPI 21098288
GO:0016740 transferase activity 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:
  • Gba Gba<tm1Nsb>
  • Gba Gba<tm1.1Clk>
  • Gba Gba<tm1.2Pmis>
  • Gba Gba<tm1.1Karl>
  • Gba Gba<tm2Rlp>
  • Gba Gba<tm2Karl>

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 (PubMed:10781797). Targeting to lysosomes occurs through an alternative MPR-independent mechanism via SCARB2 (PubMed:18022370). {ECO:0000269 PubMed:10781797, ECO:0000269 PubMed:18022370}.

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
lysosome 5
endoplasmic reticulum 4
golgi apparatus 4
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endosome 2
cytosol 2
peroxisome 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 IMP 25202012
GO:0005765 lysosomal membrane TAS,ISS --
GO:0005783 endoplasmic reticulum ISS --
GO:0005794 Golgi apparatus ISS --
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

UniProtKB/Swiss-Prot P04062-GLCM_HUMAN

  • Pathway: Steroid metabolism; cholesterol metabolism.
  • Pathway: Sphingolipid metabolism.

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:0006914 autophagy IMP 27378698
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, ClinicalTrials, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
velaglucerase alfa Approved, Investigational Pharma Target 0
mometasone furoate Approved, Investigational, Vet_approved Pharma 221
D-glucose Approved, Investigational, Vet_approved Pharma 0
Water Approved Pharma 0
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 98

(131) 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
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

mRNA/cDNA for GBA Gene

7 REFSEQ mRNAs :
28 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for GBA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for GBA Gene



Protein tissue co-expression partners for GBA Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(3)
  • Spleen(2.8)
  • 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
Regions:
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 31 30
  • 99.5 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GBA 31 30
  • 88.74 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GBA 31 30
  • 87.87 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gba 30
  • 85.11 (n)
mouse
(Mus musculus)
Mammalia Gba 17 31 30
  • 84.08 (n)
oppossum
(Monodelphis domestica)
Mammalia GBA 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC101748171 30
  • 69.22 (n)
-- 31
  • 58 (a)
OneToMany
-- 31
  • 58 (a)
OneToMany
-- 31
  • 55 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 61 (a)
OneToMany
-- 31
  • 54 (a)
OneToMany
-- 31
  • 53 (a)
OneToMany
-- 31
  • 51 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.29001 30
zebrafish
(Danio rerio)
Actinopterygii gba 31 30
  • 61.54 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9605 30
fruit fly
(Drosophila melanogaster)
Insecta CG31414 31
  • 31 (a)
OneToMany
CG31148 31
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gba-4 31 30
  • 48.72 (n)
OneToMany
Y4C6B.6 32
  • 42 (a)
gba-3 31
  • 41 (a)
OneToMany
C33C12.3 32
  • 40 (a)
C33C12.8 32
  • 38 (a)
gba-1 31
  • 36 (a)
OneToMany
gba-2 31
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToOne
Cin.912 30
bread mold
(Neurospora crassa)
Ascomycetes NCU04395 30
  • 42.7 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.912 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for GBA: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GBA Gene