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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)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Glucosidase, Beta, Acid1 2     alglucerase2
GLUC1 2 3     beta-glucocerebrosidase2
glucosylceramidase1 2     imiglucerase2
Acid Beta-Glucosidase2 3     Lysosomal Glucocerebrosidase2
D-Glucosyl-N-Acylsphingosine Glucohydrolase2 3     Alglucerase3
EC 3.2.1.453 8     Beta-glucocerebrosidase3
Glucosidase, Beta; Acid (Includes Glucosylceramidase)1     GC3
GBA12     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


(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 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 (glucosidase, beta, acid) is a protein-coding gene. Diseases associated with GBA include gaucher's disease, and gaucher disease type 1, and among its related super-pathways are Sphingolipid metabolism and Metabolic pathways. GO annotations related to this gene include glucosylceramidase activity and receptor binding.

summary for GBA Gene:
Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two
glucosidase subtypes, alpha- and beta-glucosidase (EC numbers 3.2.1.20 and 3.2.1.21 respectively), which are
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 respectively.

Gene Wiki entry for GBA (Glucocerebrosidase) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
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-,NW_003315906 39,471-49,885     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for GBA at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GBA Protein Expression
    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 for GBA: 
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    OriGene Purified Protein for GBA
    OriGene Protein Over-expression Lysate for GBA
    OriGene MassSpec for GBA 
    OriGene Custom Protein Services for GBA
    GenScript Custom Purified and Recombinant Proteins Services for GBA
    Novus Biologicals GBA Proteins
    Novus Biologicals GBA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    GBA for ontologies           About GeneDecksing



    GBA Antibody Products: 
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    Novus Biologicals GBA Antibodies
    Abcam antibodies for GBA
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for GBA
    LSBio Antibodies in human, mouse, rat for GBA 

    Assay Products for GBA: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GBA
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     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 domain: IPB001139 Glycosyl hydrolase family 30 signature

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


    GBA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 2 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
         
    GBA for ontologies           About GeneDecksing


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

         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

    Animal Models:
         MGI mouse knock-outs for GBA: Gbatm1.1Clk Gbatm1.1Karl Gbatm2Karl Gbatm1Nsb

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GBA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GBA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GBA 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GBA 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GBA
    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 plasmidGBA 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for GBA
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of GBA

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for GBA (see all 29)
    OriGene ORF clones in mouse, rat for GBA
    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)
    Sino Biological Human cDNA Clone for GBA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GBA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GBA
    Sirion Biotech Customized lentivirus for stable overexpression of GBA 
                         Customized lentivirus expression plasmids for stable overexpression of GBA 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for GBA
    Search LifeMap BioReagents cell lines for GBA
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBA


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GBA About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.63
    Glycosphingolipid metabolism0.55
    Sphingolipid metabolism0.63
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3Other glycan degradation
    Other glycan degradation
    4Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    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): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process IEA--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006680glucosylceramide catabolic process IMP19279011
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0008219cell death IEA--

    GBA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 #
    KifunensineInhibitor of class I alpha-mannosidases[109944-15-2]
    1-DeoxynojirimycinGlucosidase I and II inhibitor[19130-96-2]
    1-Deoxymannojirimycin hydrochloridealpha-Mannosidase I inhibitor[73465-43-7]
    Miglitolalpha-glucosidase inhibitor[72432-03-2]
    OGT 2115Antiangiogenic. Heparanase inhibitor[853929-59-6]

    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--

    4 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
    Velaglucerase alfaImiglucerase (see all 2)884604-91-5target--20336596

    10/46 Novoseek inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368373(uc001fjh.3) ENST00000327247 ENST00000464536 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)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    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 plasmidGBA 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for GBA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GBA
    Clone
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    OriGene clones in human, mouse for GBA (see all 29)
    OriGene ORF clones in mouse, rat for GBA
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GBA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GBA
    Sirion Biotech Customized lentivirus for stable overexpression of GBA 
                         Customized lentivirus expression plasmids for stable overexpression of GBA 
    Primer
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    OriGene qPCR primer pairs and template standards for GBA
    OriGene qSTAR qPCR primer pairs in human, mouse for GBA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GBA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GBA

    Additional mRNA 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 

    24/29 DOTS entries (see all 29):

    DT.100879420  DT.100736963  DT.119308  DT.92454161  DT.100879431  DT.99931020  DT.121449659  DT.97850581 
    DT.100031341  DT.121449656  DT.100734813  DT.100879434  DT.121449663  DT.449806  DT.92454150  DT.100879414 
    DT.100879426  DT.121449673  DT.100879423  DT.100879428  DT.121449567  DT.121449577  DT.91749412  DT.92038757 

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

    AK056250 BE867971 BM772392 AA054393 BQ678522 CF529887 AI076544 N77014 
    BM743249 AA348554 BU167909 BX325408 CR610547 CR606706 BG027084 W00826 
    CF529918 BX423034 BM772408 BQ897517 BM772360 AI168161 BQ683279 BM760596 

    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

    (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)      GBA embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGCTGTGTGC
    GBA Expression
    About this image


    GBA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/33 selected tissues (see all 33) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Breast
             breast ; myoepithelial cells   

    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
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    (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 7/16 species (see all 16)    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 
    chicken
    (Gallus gallus)
    Aves --
    --
    (see all 3)
    --
    56(a)
    54(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    AADN03022582.1(401-1247)
    AADN03020125.1(21-1458)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 4)
    Uncharacterized protein
    (see all 4)
    60(a)
    53(a)
    (see all 4)
    many → 1
    many → 1
    (see all 4)
    GL344370.1(21-3960)
    GL344144.1(22650-33134)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.290012 Xenopus laevis transcribed sequence with weak similarity to protein spP04062 (H.sapiens) GLCM_HUMAN Glucosylceramidase precursor (Beta-glucocerebrosidase) (Acid beta-glucosidase) (D-glucosyl-N-acylsphingosine glucohydrolase) (Alglucerase) (Imiglucerase) less 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 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


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/536 SNPs in GBA are shown (see all 536)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0032584
    Gaucher disease (GD)4--see VAR_0032582 G E mis40--------
    VAR_0322024
    Gaucher disease (GD)4--see VAR_0322022 L F mis40--------
    VAR_0090454
    Gaucher disease (GD)4--see VAR_0090452 A T mis40--------
    VAR_0100734
    Gaucher disease (GD)4--see VAR_0100732 F I mis40--------
    VAR_0033154
    Gaucher disease (GD)4--see VAR_0033152 Y H mis40--------
    VAR_0324164
    Gaucher disease (GD)4--see VAR_0324162 H R mis40--------
    VAR_0090464
    Gaucher disease (GD)4--see VAR_0090462 S N mis40--------
    VAR_0100594
    Gaucher disease (GD)4--see VAR_0100592 I S mis40--------
    VAR_0033034
    Gaucher disease (GD)4--see VAR_0033032 G S mis40--------
    VAR_0032704
    Gaucher disease (GD)4--see VAR_0032702 A D mis40--------

    HapMap Linkage Disequilibrium report for GBA (155204239 - 155214653 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for GBA:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2421617CNV Duplication20811451
    nsv2999CNV Insertion18451855
    nsv436038CNV Insertion17901297
    dgv3n68CNV Loss17160897
    nsv470741CNV Loss18288195
    nsv872457CNV Loss21882294
    esv28935CNV Gain19812545
    nsv8469CNV Gain18304495
    nsv8480CNV Gain18304495
    dgv132e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): GBA

    Locus Specific Mutation Databases (LSDB): GBA
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GBA
    DNA2.0 Custom Variant and Variant Library Synthesis for GBA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606463   
    OMIM disorders: 230800  230900  231000  231005  608013  
    UniProtKB/Swiss-Prot: GLCM_HUMAN, P04062
  • 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. 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. 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. 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. 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. Note=Disease
    susceptibility may be associated with variations affecting the gene represented in this entry

  • 20/65 diseases for GBA (see all 65):    About MalaCards
    gaucher's disease    gaucher disease type 1    gaucher disease type 2    gaucher disease type 3
    gaucher disease perinatal lethal    pseudo-gaucher disease    hydrops of gallbladder    gaucher disease, type iiic
    splenomegaly    chancroid    adenosine deaminase deficiency    hypersplenism
    hydrops fetalis    chitotriosidase deficiency    lrrk2-related parkinson disease    lysosomal storage disease
    pancytopenia    fabry disease    lewy body dementia    myoclonus epilepsy

    7 diseases from the University of Copenhagen DISEASES database for GBA:
    Gaucher's disease     Parkinson's disease     Thrombocytopenia     Hypersplenism
    Fabry disease     Lewy body dementia     Anemia

    GBA for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/52 Novoseek inferred 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
    GeneReviews: GBA
    Genetic Association Database (GAD): GBA
    Human Genome Epidemiology (HuGE) Navigator: GBA (56 documents)

    Export disorders for GBA gene to outside databases

    (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 684):
    (articles sorted by number of sources associating them with GBA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. (PubMed id 19286695)1, 2, 4, 9 Neumann J.... Wood N.W. (2009)
    2. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. (PubMed id 19846850)1, 2, 4, 9 Sidransky E.... Ziegler S.G. (2009)
    3. Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. (PubMed id 18332251)1, 2, 4, 9 Mata I.F.... Zabetian C.P. (2008)
    4. 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)
    5. Structural analysis of the human glucocerebrosidase genes. (PubMed id 3359914)1, 2, 3 Reiner O.... Horowitz M. (1988)
    6. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. (PubMed id 18987351)1, 4, 9 Nichols W.C....Foroud T. (2008)
    7. Mutations in the Parkinson's disease genes, Leucine R ich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated wi th essential tremor. (PubMed id 19527940)1, 4, 9 Clark L.N....Louis E.D. (2010)
    8. 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)
    9. Association of glucocerebrosidase mutations with dementia with lewy bodies. (PubMed id 19433657)1, 4, 9 Clark L.N....Marder K. (2009)
    10. Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. (PubMed id 17462935)1, 4, 9 Ziegler S.G....Sidransky E. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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