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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GBA Gene

protein-coding   GIFtS: 71
GCID: GC01M155204

glucosidase, beta, acid

(Previous names: glucosylceramidase, glucosidase, beta; acid (includes glucosylceramidase)...)
(Previous symbol: GLUC)
 Explore 73 diseases affiliated with
GBA via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GBA    

Aliases
for GBA gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Glucosidase, Beta, Acid1 2     Alglucerase3
GLUC1 2 3     Beta-Glucocerebrosidase1
GBA11 2     Imiglucerase3
Glucosylceramidase1     Lysosomal Glucocerebrosidase2
Acid Beta-Glucosidase2 3     Alglucerase3
D-Glucosyl-N-Acylsphingosine Glucohydrolase2 3     Beta-Glucocerebrosidase1
EC 3.2.1.453 8     GC3
Glucosidase, Beta; Acid (Includes Glucosylceramidase)1     Imiglucerase3
GCB2     

External Ids:    HGNC: 41771   Entrez Gene: 26292   Ensembl: ENSG000001776287   OMIM: 6064635   UniProtKB: P040623   

Export aliases for GBA gene to outside databases

Previous GC identifers: GC01P152907 GC01M150944 GC01M151962 GC01M152421 GC01M152017 GC01M153470 GC01M126557


Summaries
for GBA gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for GBA:
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)

Gene Wiki entry for GBA (Glucocerebrosidase)


Genomic Views
for GBA gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GBA gene promoter:
         PPAR-gamma1   Bach2   Sox9   PPAR-gamma2   c-Myc   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GBA promoter sequence
   Search SABiosciences Chromatin IP Primers for GBA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GBA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q22   HGNC cytogenetic band: 1q22

GBA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GBA gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M155204:  view genomic region     (about GC identifiers)

Start:
 155,204,239 bp from pter      End:
 155,214,653 bp from pter
Size:
 10,415 bases      Orientation:
 minus strand

1 alternative location:
Chr1-,PATCHES 155,219,629-155,230,043     

Proteins
for GBA gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: GLCM_HUMAN, P04062 (See protein sequence)
Recommended Name: Glucosylceramidase precursor  
Size: 536 amino acids; 59716 Da
Subunit: Interacts with saposin-C. Interacts with SCARB2
Subcellular location: 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
6/23 PDB 3D structures from and Proteopedia for GBA (see all 23):
1OGS (3D)        1Y7V (3D)        2F61 (3D)        2J25 (3D)        2NSX (3D)        2NT0 (3D)    
Secondary accessions: A8K796 Q16545 Q4VX22 Q6I9R6 Q9UMJ8
Alternative splicing, Alternative initiation: 3 isoforms:  P04062-1   P04062-2   P04062-3   (Produced by alternative splicing)

Explore the universe of human proteins at neXtProt for GBA: NX_P04062

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P04062

    • 4/18 DME Specific Peptides for GBA (P04062) (see all 18)
     YTYADTP  GFLETISP  GLLLTLQP  YSIHTYLW 

    GBA Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (5 alternative transcripts): 
    NP_000148.2  NP_001005741.1  NP_001005742.1  NP_001165282.1  NP_001165283.1  

    ENSEMBL proteins: 
     ENSP00000357357   ENSP00000314508   ENSP00000402577   ENSP00000445560   ENSP00000397986  
    Reactome Protein details: P04062
    Human Recombinant Protein Products: 
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    OriGene Purified Protein: GBA
    OriGene Protein Over-expression Lysate (see all 4): GBA
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    Novus Biologicals GBA Proteins
    Novus Biologicals GBA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for GBA

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome ----
    GO:0005765lysosomal membrane TAS--
    GO:0043202lysosomal lumen ISS18022370


    GBA for ontologies           About GeneDecksing



    GBA Antibody Products: 
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    ThermoFisher Antibody for GBA

    Assay Products for GBA: 
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    Uscn ELISAs and CLIAs for GBA

    Protein Domains /
    Families
    for GBA gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GBA for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR017853 Glycoside_hydrolase_SF
     IPR001139 Glyco_hydro_30
     IPR013781 Glyco_hydro_catalytic_dom
     IPR013780 Glyco_hydro_13_b

    Graphical View of Domain Structure for InterPro Entry P04062

    ProtoNet protein and cluster: P04062

    1 Blocks protein family: IPB001139 Glycosyl hydrolase family 30 signature

    UniProtKB/Swiss-Prot: GLCM_HUMAN, P04062
    Similarity: Belongs to the glycosyl hydrolase 30 family


    Function
    for GBA gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: GLCM_HUMAN, P04062
    Catalytic activity: D-glucosyl-N-acylsphingosine + H(2)O = D-glucose + N-acylsphingosine
    Enzyme regulation: Requires saposin-C and anionic phospholipids for activity

         Genatlas biochemistry entry for GBA:
    glucosidase,beta,acid,55.6kDa,lysosomal hydrolyzing glucosylceramide,penultimate intermediate in the degradative
    pathway of complex glycolipids

    Enzyme Number (IUBMB): EC 3.2.1.451 2

    miRNA
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    4 QIAGEN miScript miRNA Assays for microRNAs that regulate GBA:
    hsa-miR-221* hsa-miR-365 hsa-miR-331-3p hsa-miR-3670
    SwitchGear 3'UTR luciferase reporter plasmid: GBA 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: GBA
    OriGene siRNA: GBA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GBA

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for GBA

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GBA (see all 7)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GBA (see all 7)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 5): GBA (NM_001005742)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GBA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GBA 

    Cell Line
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    Search LifeMap BioReagents cell lines for GBA

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBA

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004348glucosylceramidase activity IDA19279011
    GO:0005102receptor binding ISS18022370
    GO:0043169cation binding IEA--


    GBA for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for GBA:
     Upregulation of Wnt/beta-caten 

    Animal Models:
         Mouse knock-outs for GBA: Gbatm1.1Clk Gbatm1.1Karl Gbatm2Karl Gbatm1Nsb
         14 MGI mutant phenotypes (inferred from 16 alleles) (MGI details for Gba):
     behavior/neurological  cardiovascular system  cellular  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     nervous system  normal  respiratory system  skeleton 

    GBA for phenotypes           About GeneDecksing


    Pathways & Interactions
    for GBA gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Sphingolipid metabolism
    		Sphingolipid metabolism1.00
    		Sphingolipid metabolism0.54
    		Glycosphingolipid metabolism0.54
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    3Lysosome
    		Lysosome1.00
    4Other glycan degradation
    		Other glycan degradation1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for GBA
        Sphingolipid metabolism
    Glycosphingolipid metabolism
    Metabolism
    Metabolism of lipids and lipoproteins


    4         Kegg Pathways  (Kegg details for GBA):
        Other glycan degradation
    Sphingolipid metabolism
    Metabolic pathways
    Lysosome


    GBA for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GBA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/66 Interacting proteins for GBA (P040621, 2, 3 ENSP000003145084) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LAMP1P112792, 3, ENSP000003332984MINT-7555398 MINT-7555338 MINT-7555323 I2D: score=1 STRING: ENSP00000333298
    SCARB2Q141082, 3, ENSP000002648964MINT-4054731 I2D: score=1 STRING: ENSP00000264896
    LAMP2P134733, ENSP000004084114I2D: score=1 STRING: ENSP00000408411
    PSAPP076023, ENSP000003783944I2D: score=1 STRING: ENSP00000378394
    TCP1P179873, ENSP000003173344I2D: score=1 STRING: ENSP00000317334
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process IEA--
    GO:0006644phospholipid metabolic process TAS--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006680glucosylceramide catabolic process IMP19279011
    GO:0006687glycosphingolipid metabolic process TAS--


    GBA for ontologies           About GeneDecksing



    Drugs & Compounds
    for GBA gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GBA for compounds           About GeneDecksing

    EMD Millipore small molecules for GBA:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for GBA

    Compounds for GBA available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CastanospermineGlucosidases alpha and beta inhibitor[79831-76-8]
    1-DeoxynojirimycinGlucosidase I and II inhibitor[19130-96-2]
    UniProtKB/Swiss-Prot: GLCM_HUMAN, P04062
    Pharmaceutical: Available under the names Ceredase and Cerezyme (Genzyme). Used to treat Gaucher's disease


    10/115 HMDB Compounds for GBA (see all 115)    About this table
    CompoundSynonyms CAS #PubMed Ids
    1,4-beta-D-Glucan ----
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--

    3 DrugBank Compounds for GBA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2-(Acetylamino)-2-Deoxy-a-D-Glucopyranose-- --target--17139284 17016423
    Myo-Inositol-- --target--17139284 17016423
    (2R,3R,4R,5S)-2-(HYDROXYMETHYL)-1-NONYLPIPERIDINE-3,4,5-TRIOL-- --target--10592235

    10/46 Novoseek chemical compound relationships for GBA gene (see all 46)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucosylceramide 93.4 91 8188616 (3), 11264150 (2), 11994410 (2), 19279011 (2) (see all 65)
    conduritol b epoxide 89.1 11 16125984 (1), 15817452 (1), 12401882 (1), 17881272 (1) (see all 5)
    glucosyl sphingosine 87.9 11 8188616 (3), 12649340 (1), 15649698 (1), 10926300 (1) (see all 6)
    miglustat 84 25 16039881 (6), 16285070 (4), 17433057 (4), 17609429 (2) (see all 10)
    brcbe 77.6 4 8163674 (1)
    4-methylumbelliferyl-beta-d-glucoside 72.1 2 8740577 (1), 15120640 (1)
    glycosphingolipid 70.4 5 10419477 (1), 10079102 (1), 15000829 (1), 17954913 (1)
    glycolipid 69.2 15 17217920 (1), 15605411 (1), 18586596 (1), 12173027 (1) (see all 14)
    collodion 66.3 1 10756347 (1)
    ceramide 62.9 33 19279011 (6), 15266399 (1), 19075603 (1), 17201413 (1) (see all 19)

    Search CenterWatch for drugs/clinical trials and news about GBA / GLCM 

    Transcripts
    for GBA gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for GBA gene (7 alternative transcripts): 
    NM_000157.3  NM_001005741.2  NM_001005742.2  NM_001171811.1  NM_001171812.1  NM_001005749.1  NM_001005750.1  

    Unigene Cluster for GBA:

    Glucosidase, beta, acid
    Hs.282997  [show with all ESTs]
    Unigene Representative Sequence: M16328
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368373(uc001fjh.3) ENST00000327247 ENST00000464536 ENST00000480140
    ENST00000478472 ENST00000484489 ENST00000491081 ENST00000497670 ENST00000461917
    ENST00000460156 ENST00000493842 ENST00000473570 ENST00000467918 ENST00000470104
    ENST00000427500(uc010pfx.2 uc010pfw.2) ENST00000536770 ENST00000428024(uc001fjl.3 uc001fjk.3 uc010pfy.2 uc009wqk.2)


    miRNA
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    hsa-miR-221* hsa-miR-365 hsa-miR-331-3p hsa-miR-3670
    SwitchGear 3'UTR luciferase reporter plasmid: GBA 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GBA (see all 7)
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    Clone
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    Additional cDNA sequence: 

    AK291911.1 AK298900.1 AK300186.1 AK300829.1 AK300876.1 AK301374.1 AK301879.1 AK302000.1 
    AK311242.1 AK312502.1 BC003356.1 BX648487.1 D13286.1 K02920.1 M16328.1 M19285.1 

    24/30 DOTS entries (see all 30):

    DT.100879420  DT.100736963  DT.119308  DT.92454161  DT.100879431  DT.99931020  DT.121449659  DT.97850581 
    DT.100031341  DT.121449656  DT.100734813  DT.100879423  DT.100879434  DT.121449663  DT.449806  DT.92454150 
    DT.100879414  DT.100879426  DT.121449673  DT.92038757  DT.95279663  DT.100879428  DT.101967026  DT.121449567 

    24/503 AceView cDNA sequences (see all 503):

    CA391301 N77014 BQ683460 AU280719 BG674486 CR610547 M22212 BU179307 
    D13286 BU595424 BF436547 BU194317 BQ897517 BC003356 BU839355 AK090514 
    CR606706 BG027084 BM772410 BM772390 AI076544 CA488563 AK056250 AI475484 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for GBA (see all 14)    About this scheme

    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:                          -     -     -     -     -                 -     -     -                                                                           


    ECgene alternative splicing isoforms for GBA

    Expression
    for GBA gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GBA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CGCTGTGTGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See GBA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GBA

    SOURCE GeneReport for Unigene cluster: Hs.282997
        SABiosciences Custom PCR Arrays for GBA
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GBA
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBA

    Orthologs
    for GBA gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for GBA gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Gba1 , 5 glucosidase, beta, acid1, 5 84.08(n)1
    86.6(a)1    		   3 (39.01 cM)5
    144661  NM_001077411.11  NP_001070879.11 
     892029285 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    (see all 4)    		 --
    		 65(a)
    54(a)
    (see all 4)    		 many → 1
    many → 1
    (see all 4)    		 GL344370.1(742-3960)
    GL344144.1(22650-33134)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.290012 Xenopus laevis transcribed sequence with weak similarity more 74.08(n)    CD361929.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5590721 glucosylceramidase-like 61.54(n)
    57.69(a)    		   559072  XM_682379.3  XP_687471.3 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG311481 CG31148 47.66(n)
    36.14(a)    		   42796  NM_142915.2  NP_651172.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea Y4C6B.63
    gba-41    		 Protein GBA-41 42(a)
    (best of 3)3
    48.71(n)1
    44.31(a)1    		   IV(5344826-5351031)3
    1773141  NM_068384.31  NP_500785.11 


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

    Paralogs
    for GBA gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GBA gene

    GBA for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for GBA
    PGOHUM00000262417


    Genomic Variants
    for GBA gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/308 NCBI SNPs in GBA are shown (see all 308)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs803567731,2
    		Cpathogenic155204793(-) GCGTCG/ACCAGT 20 /H /R mis11Minor allele frequency- A:0.00EU 589
    rs803567711,2
    		Cpathogenic155204987(-) TAAACC/TGGTGA 20 R C mis10--------
    rs4210161,2
    		C,Fpathogenic155205043(+) CGTCCA/GGGTCG 20 P L mis16Minor allele frequency- G:0.03MN NA EU 6043
    rs773692181,2
    		Cpathogenic155205517(-) CAAGGA/TCACGT 20 D V mis10--------
    rs10646511,2
    		C,pathogenic155205518(-) CCAAGG/CACACG 20 /H /D mis1 ese34Minor allele frequency- C:0.00MN NA 4724
    rs745981361,2
    		Cpathogenic155205541(-) CAGTCC/TCATCA 20 P L mis10--------
    rs803567691,2
    		Cpathogenic155205563(-) ATTGGG/TTGCGT 20 V L mis10--------
    rs767637151,2
    		C,F,pathogenic155205634(+) GGAGGC/G/TTCTAG 30 N T S mis12NA EU 5871
    rs22302881,2
    		C,F,H,pathogenic155206167(-) TAGGGG/AAGACA 20 /K /E mis112Minor allele frequency- A:0.01MN NS EA NA EU 6693
    rs765398141,2
    		Cpathogenic155206175(-) AGCCAC/TCCTAG 20 T I mis10--------

    HapMap Linkage Disequilibrium report for GBA (155204239 - 155214653 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for GBA
         7 CNVs: 34718 74732 65018 30444 3315 4257 74730
    Human Gene Mutation Database (HGMD): GBA

    Locus Specific Mutation Databases (LSDB): GBA

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GBA
    DNA2.0 Custom Variant and Variant Library Synthesis for GBA

    Disorders / Diseases
    for GBA gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    GBA for disorders           About GeneDecksing

    OMIM gene information: 606463   
    OMIM disorders: 230800  230900  231000  231005  608013  
    UniProtKB/Swiss-Prot: GLCM_HUMAN, P04062
  • Defects in GBA are the cause of Gaucher disease (GD) [MIM:230800]; also known as glucocerebrosidase
    • deficiency. GD is the most prevalent lysosomal storage disease, 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
  • Defects in GBA are the cause of Gaucher disease type 1 (GD1) [MIM:230800]; also known as adult
    • non-neuronopathic Gaucher disease. GD1 is characterized by hepatosplenomegaly with consequent anemia and thrombopenia,
    and bone involvement. The central nervous system is not involved
  • Defects in GBA are the cause of Gaucher disease type 2 (GD2) [MIM:230900]; also known as acute neuronopathic
    • Gaucher disease. GD2 is the most severe form and is universally progressive and fatal. It manifests soon after birth,
    with death generally occurring before patients reach two years of age
  • Defects in GBA are the cause of Gaucher disease type 3 (GD3) [MIM:231000]; also known as subacute
    • neuronopathic Gaucher disease. GD3 has central nervous manifestations
  • Defects in GBA are the cause of Gaucher disease type 3C (GD3C) [MIM:231005]; also known as pseudo-Gaucher
    • disease or Gaucher-like disease
  • Defects in GBA are the cause of Gaucher disease perinatal lethal (GDPL) [MIM:608013]. It is a 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=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
  • Defects in GBA contribute to susceptibility to 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

    20/73 diseases for GBA (see all 73):    About MalaCards
    gaucher's disease    lysosomal storage disease    gaucher disease perinatal lethal    adenosine deaminase deficiency
    gaucher disease, type iiic    cholesteryl ester storage disease    hydrops fetalis    pseudo-gaucher disease
    niemann-pick disease    lewy body dementia    supranuclear palsy    progressive supranuclear palsy
    myoclonus epilepsy    progressive myoclonus epilepsy    gaucher disease type 3    gaze palsy
    gaucher disease type 2    gaucher disease type 1    chitotriosidase deficiency    glycogen storage disease

    5 diseases from the University of Copenhagen DISEASES database for GBA:
    Gaucher's disease     Parkinson's disease     Hydrops of gallbladder     Thrombocytopenia
    Lewy body dementia

    10/52 Novoseek disease relationships for GBA gene (see all 52)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gaucher disease 99 508 2198026 (7), 1379912 (5), 11783951 (3), 8030654 (3) (see all 99)
    type 1 gaucher disease 97.9 127 9512964 (4), 7769902 (4), 2223847 (3), 19265748 (3) (see all 73)
    gaucher disease, type i 96 55 12645190 (2), 2315324 (1), 8118463 (1), 8588848 (1) (see all 50)
    type 2 gaucher disease 95.6 17 11958535 (2), 10223617 (1), 15214004 (1), 16859193 (1) (see all 14)
    type 3 gaucher disease 93.7 14 11600137 (3), 9382473 (2), 15261378 (2), 11295718 (1) (see all 9)
    neuronopathic gaucher disease 91.6 8 17065591 (3), 15786474 (2), 18627336 (1), 12595585 (1)
    lysosomal storage diseases 89.4 40 8612670 (1), 16923570 (1), 18228684 (1), 19167257 (1) (see all 35)
    sphingolipidoses 86.9 9 15937950 (1), 15146461 (1), 19857976 (1), 1776640 (1) (see all 7)
    gaucher disease, type ii 78.1 3 18245815 (1), 11550412 (1)
    enzyme deficiency 68 4 11994410 (1), 8934230 (1), 9315031 (1)

    Genatlas disease: GBA
    hydrops fetalis

    GeneTests: GBA
    Gaucher Disease

    Genetic Association Database (GAD): GBA
    Human Genome Epidemiology (HuGE) Navigator: GBA (56 documents)

    Export disorders for GBA gene to outside databases

    Publications
    for GBA gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GBA gene, integrated from 9 sources (see all 669):
    (articles sorted by number of sources associating them with GBA)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation. (PubMed id 16148263)1, 2, 4, 9 Aharon-Peretz J.... Gershoni-Baruch R. (2005)
    2. Structural analysis of the human glucocerebrosidase genes. (PubMed id 3359914)1, 2, 3 Reiner O.... Horowitz M. (1988)
    3. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. (PubMed id 19286695)1, 2, 9 Neumann J.... Wood N.W. (2009)
    4. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. (PubMed id 9331372)1, 2, 9 Winfield S.L.... Sidransky E. (1997)
    5. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. (PubMed id 19846850)1, 2, 9 Sidransky E.... Ziegler S.G. (2009)
    6. Analysis of the glucocerebrosidase gene in Parkinson's disease. (PubMed id 15517592)1, 4, 9 Sato C....Rogaeva E. (2005)
    7. Glucocerebrosidase mutations in subjects with parkinsonism. (PubMed id 14728994)1, 4, 9 Lwin A....Sidransky E. (2004)
    8. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. (PubMed id 15525722)1, 4, 9 Aharon-Peretz J....Gershoni-Baruch R. (2004)
    9. The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. (PubMed id 11933202)1, 2, 9 Orvisky E.... Sidransky E. (2002)
    10. Glucocerebrosidase mutations in Gaucher disease. (PubMed id 8790604)1, 2, 9 Beutler E.... Gelbart T. (1994)

    External Searches for GBA gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing GBA gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2629 HGNC: 4177 AceView: GBA Ensembl:ENSG00000177628 euGenes: HUgn2629
    ECgene: GBA Kegg: 2629 H-InvDB: GBA

    Other Databases showing GBA gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GBA gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GBA Pharmacogenomics, SNPs, Pathways
    Ceredasehttp://www.rxlist.com/ceredase-drug.htm
    Cerezymehttp://www.rxlist.com/cerezyme-drug.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GBA

    Intellectual Property
    for GBA gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for GBA gene:
    Search GeneIP for patents involving GBA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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