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GBA2 Gene

protein-coding   GIFtS: 56
GCID: GC09M035726

Glucosidase, Beta (Bile Acid) 2

(Previous name: spastic paraplegia 46 (autosomal recessive))
(Previous symbol: SPG46)
  See GBA2-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)
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Aliases
Glucosidase, Beta (Bile Acid) 21 2     EC 3.2.1.453 8
SPG461 2 5     KIAA16053 5
Non-Lysosomal Glucosylceramidase1 2     Bile Acid Beta-Glucosidase1
Beta-Glucocerebrosidase 22 3     Spastic Paraplegia 46 (Autosomal Recessive)1
Glucosylceramidase 22 3     Beta-Glucosidase 23
NLGase2 3     

External Ids:    HGNC: 189861   Entrez Gene: 577042   Ensembl: ENSG000000706107   OMIM: 6094715   UniProtKB: Q9HCG73   

Export aliases for GBA2 gene to outside databases

Previous GC identifers: GC09M036049 GC09M035906


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GBA2 Gene:
This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as
endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that
the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic
reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and
metabolism. (provided by RefSeq, Jul 2008)

GeneCards Summary for GBA2 Gene:
GBA2 (glucosidase, beta (bile acid) 2) is a protein-coding gene. Diseases associated with GBA2 include spastic paraplegia 46, autosomal recessive, and splenic sequestration. GO annotations related to this gene include beta-glucosidase activity and glucosylceramidase activity.

UniProtKB/Swiss-Prot: GBA2_HUMAN, Q9HCG7
Function: Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide (GlcCer) to free
glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also
catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo.
Plays a role in central nevous system development. Required for proper formation of motor neuron axons

summary for GBA2 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 GBA2 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GBA2 gene promoter:
         AP-2alpha isoform 3   Pax-6   MyoD   Nkx2-5   AP-2alpha isoform 2   GATA-1   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGBA2 promoter sequence
   Search Chromatin IP Primers for GBA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GBA2


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

Entrez Gene cytogenetic band: 9p13.3   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p13.2

GBA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GBA2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M035726:  view genomic region     (about GC identifiers)

Start:
35,736,863 bp from pter      End:
35,749,983 bp from pter
Size:
13,121 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GBA2_HUMAN, Q9HCG7 (See protein sequence)
Recommended Name: Non-lysosomal glucosylceramidase  
Size: 927 amino acids; 104649 Da
Sequence caution: Sequence=AAG44660.1; Type=Frameshift; Positions=649, 691; Sequence=BAB13431.1; Type=Erroneous
initiation;
Secondary accessions: D3DRP2 Q5TCV6 Q96A51 Q96LY1 Q96SJ2 Q9H2L8
Alternative splicing: 3 isoforms:  Q9HCG7-1   Q9HCG7-2   Q9HCG7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GBA2: NX_Q9HCG7

Explore proteomics data for GBA2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GBA2 (Q9HCG7) (see all 5)
     GGIGGGTI  YMRPLSIW  YGRFGYLEG  LAATMIQEG 


    See GBA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065995.1  
    ENSEMBL proteins: 
     ENSP00000367343   ENSP00000367328   ENSP00000367334   ENSP00000442372  
    Reactome Protein details: Q9HCG7

    GBA2 Human Recombinant Protein Products:

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    Novus Biologicals GBA2 Protein
    Novus Biologicals GBA2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for GBA2 

     
    antibodies-online proteins for GBA2 (3 products) 

     
    Search antibodies-online for peptides for GBA2

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    antibodies-online antibodies for GBA2 (20 products) 

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for GBA2 
    antibodies-online kits for GBA2 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR006775 Glucosylceramidase
     IPR014551 Beta_glucosidase_GBA2-type
     IPR024462 GBA2_N
     IPR008928 6-hairpin_glycosidase-like

    Graphical View of Domain Structure for InterPro Entry Q9HCG7

    ProtoNet protein and cluster: Q9HCG7

    UniProtKB/Swiss-Prot: GBA2_HUMAN, Q9HCG7
    Similarity: Belongs to the non-lysosomal glucosylceramidase family


    Find genes that share domains with GBA2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GBA2_HUMAN, Q9HCG7
    Function: Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide (GlcCer) to free
    glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also
    catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo.
    Plays a role in central nevous system development. Required for proper formation of motor neuron axons
    Catalytic activity: D-glucosyl-N-acylsphingosine + H(2)O = D-glucose + N-acylsphingosine
    Enzyme regulation: Enzymatic activity is dependent on membrane association and requires the presence of lipids (By
    similarity)
    Biophysicochemical properties: Kinetic parameters: KM=1.7 uM for 3-beta-D-glucosido-lithocholic; KM=6.2 uM for
    3-beta-D-glucosido-chenodeoxycholic; KM=210 uM for beta-D-glucoside;

         Enzyme Number (IUBMB): EC 3.2.1.451 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004348glucosylceramidase activity IEA--
    GO:0008422beta-glucosidase activity IDA11489889
         
    Find genes that share ontologies with GBA2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for GBA2:
     Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gba2):
     cellular  endocrine/exocrine gland  homeostasis/metabolism  immune system  reproductive system 

    Find genes that share phenotypes with GBA2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Gba2tm1Rus for GBA2

       genOway: Develop your customized and physiologically relevant rodent model for GBA2

    miRNA
    Products:
        
    miRTarBase miRNAs that target GBA2:
    hsa-mir-455-3p (MIRT037829)

    Block miRNA regulation of human, mouse, rat GBA2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GBA2 (see all 12):
    hsa-miR-485-5p hsa-miR-193a-3p hsa-miR-892b hsa-miR-676 hsa-miR-1266 hsa-miR-219-5p hsa-miR-508-3p hsa-miR-2355-3p
    SwitchGear 3'UTR luciferase reporter plasmidGBA2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GBA2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: GBA2 (NM_020944)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GBA2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBA2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GBA2_HUMAN, Q9HCG7: Endoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side (By
    similarity). Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Note=Not
    localized to lipid rafts
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    plasma membrane4
    cytosol2
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005790smooth endoplasmic reticulum TAS11489889
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----

    Find genes that share ontologies with GBA2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GBA2 About    
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    Sphingolipid metabolism0.61
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Other glycan degradation
    Other glycan degradation


    Find genes that share SuperPaths with GBA2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for GBA2
        Glycosphingolipid metabolism


    3 Kegg Pathways  (Kegg details for GBA2):
        Other glycan degradation
    Sphingolipid metabolism
    Metabolic pathways

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GBA2
    Interactions:

        Search GeneGlobe Interaction Network for GBA2

    2 Interacting proteins for GBA2 (Q9HCG73) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DYMQ7RTS93I2D: score=1 
    ELANEP082463I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006680glucosylceramide catabolic process IEA--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0008206bile acid metabolic process TAS11489889
    GO:0008219cell death IEA--

    Find genes that share ontologies with GBA2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for GBA2 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]

    Selected HMDB Compounds for GBA2 (see all 521)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Dehydrosphinganine1-Hydroxy-2-amino-3-oxo-octadecane (see all 9)16105-69-4--
    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--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GBA2 gene: 
    NM_020944.2  

    Unigene Cluster for GBA2:

    Glucosidase, beta (bile acid) 2
    Hs.443134  [show with all ESTs]
    Unigene Representative Sequence: AB046825
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378103(uc003zxw.3) ENST00000378088(uc003zxx.1) ENST00000378094(uc011lpb.1 uc011lpc.1)
    ENST00000467252(uc003zxy.1) ENST00000486797 ENST00000488292 ENST00000485259
    ENST00000489025 ENST00000545786(uc011lpd.2)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GBA2 (see all 12):
    hsa-miR-485-5p hsa-miR-193a-3p hsa-miR-892b hsa-miR-676 hsa-miR-1266 hsa-miR-219-5p hsa-miR-508-3p hsa-miR-2355-3p
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat GBA2
      QuantiFast Probe-based Assays in human, mouse, rat GBA2

    Additional mRNA sequence: 

    AB046825.1 AJ309567.1 AK027884.1 AK057610.1 AK295967.1 AK297435.1 AL834306.1 BC011363.1 

    Selected DOTS entries (see all 26):

    DT.92451593  DT.92451583  DT.97862712  DT.121191046  DT.100825733  DT.97857190  DT.91671413  DT.121191087 
    DT.100825742  DT.100825738  DT.121191036  DT.121191132  DT.91825606  DT.92451592  DT.95376078  DT.100750094 
    DT.86855054  DT.100769324  DT.100825747  DT.121191067  DT.121191100  DT.121191131  DT.121191179  DT.95376085 

    Selected AceView cDNA sequences (see all 374):

    AA336529 AI825339 BQ890353 AA731211 BI769096 N58967 AA136332 BQ068900 
    AA805715 NM_020944 BM739663 BF881857 AB046825 BE791873 BG750070 BM141670 
    BX955222 BM757821 BU689694 AA283820 BF934819 BU726983 AI218558 AA428987 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GBA2 (see all 12)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b · 12c · 12d · 12e ·
    SP1:                                                                          -                                                                                 
    SP2:                                                                                                                                                  -     -   
    SP3:                                -     -                                                                                                                     
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 12f ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a · 15b · 15c · 15d ^ 16a · 16b · 16c ^ 17
    SP1:                    -                                                               
    SP2:  -                 -                                                               
    SP3:                                                                                    
    SP4:                                                                                    
    SP5:                    -     -                                                         


    ECgene alternative splicing isoforms for GBA2

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GBA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTACAAATA
    GBA2 Expression
    About this image

    GBA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GBA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.443134

    UniProtKB/Swiss-Prot: GBA2_HUMAN, Q9HCG7
    Tissue specificity: Widely expressed. Highly expressed in brain, heart, skeletal muscle, kidney and placenta and
    expressed at lower level in liver

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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GBA2 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gba21 , 5 glucosidase beta 21, 5 87.07(n)1
    87.58(a)1
      4 (23.05 cM)5
    2301011  NM_172692.31  NP_766280.21 
     435669285 
    chicken
    (Gallus gallus)
    Aves GBA21 glucosidase, beta (bile acid) 2 69.71(n)
    68.21(a)
      100859407  XM_003642920.2  XP_003642968.1 
    lizard
    (Anolis carolinensis)
    Reptilia GBA26
    glucosidase, beta (bile acid) 2
    64(a)
    1 ↔ 1
    GL343746.1(159784-187904)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gba21 glucosidase, beta (bile acid) 2 70.04(n)
    71.81(a)
      100145361  XM_002943449.2  XP_002943495.2 
    zebrafish
    (Danio rerio)
    Actinopterygii gba21 glucosidase, beta (bile acid) 2 64.57(n)
    67.03(a)
      559240  XM_682560.5  XP_687652.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG330901 CG33090 52.59(n)
    45.28(a)
      34835  NM_176041.1  NP_788055.2 
    worm
    (Caenorhabditis elegans)
    Secernentea hpo-131 hpo-13 48.59(n)
    41.85(a)
      173305  NM_001026509.2  NP_001021680.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G241801 AT3G24180 51.11(n)
    46.55(a)
      822004  NM_113323.3  NP_189060.2 
    rice
    (Oryza sativa)
    Liliopsida Os.277962 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.71(n)    AK070141.1 


    ENSEMBL Gene Tree for GBA2 (if available)
    TreeFam Gene Tree for GBA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GBA2 gene

    Find genes that share paralogs with GBA2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for GBA2
    PGOHUM00000249632


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GBA2 (see all 273)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0696354
    Spastic paraplegia 46, autosomal recessive (SPG46)4--see VAR_0696352 R H mis40--------
    VAR_0696344
    Spastic paraplegia 46, autosomal recessive (SPG46)4--see VAR_0696342 R W mis40--------
    rs1847973851,2
    C--35737570(+) TAACTA/GTGACC 1 -- int10--------
    rs1491798241,2
    --35737678(+) AAATTG/TGGTGG 1 -- int10--------
    rs734387521,2
    C,F--35737707(+) CCAGGA/CTACAG 1 -- int13Minor allele frequency- C:0.05WA CSA 124
    rs2012586831,2
    C--35737716(+) AGATGA/GTGGAG 1 -- int10--------
    rs2005441521,2
    --35737882(+) CTGGAC/TGTTCA 2 I V mis10--------
    rs1433453631,2
    C,F--35737883(+) TGGACG/ATTCAG 2 /N syn11Minor allele frequency- A:0.00NA 4550
    rs1997652671,2
    C--35737897(+) AAAGAC/TAGTTT 2 I V mis10--------
    rs1445311461,2
    C,F--35737912(+) AGCACG/AGACCA 2 /R /C mis11Minor allele frequency- A:0.00NA 4550

    HapMap Linkage Disequilibrium report for GBA2 (35736863 - 35749983 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GBA2:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv8168n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): GBA2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GBA2
    DNA2.0 Custom Variant and Variant Library Synthesis for GBA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609471   
    OMIM disorders: 614409  
    UniProtKB/Swiss-Prot: GBA2_HUMAN, Q9HCG7
  • Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409]: A neurodegenerative disorder
    characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients
    have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for GBA2:    
    About MalaCards
    spastic paraplegia 46, autosomal recessive    splenic sequestration    autosomal recessive cerebellar ataxia with late-onset spasticity    spasticity

    2 diseases from the University of Copenhagen DISEASES database for GBA2:
    Splenic sequestration     Gaucher's disease

    Find genes that share disorders with GBA2           About GenesLikeMe


    Export disorders for GBA2 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)
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    PubMed articles for GBA2 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with GBA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of human bile acid beta -glucosidase. (PubMed id 11489889)1, 2, 3, 9 Matern H.... Matern S. (J. Biol. Chem. 2001)
    2. Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. (PubMed id 23332916)1, 2, 3 Martin E....Stevanin G. (Am. J. Hum. Genet. 2013)
    3. Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. (PubMed id 23332917)1, 2, 3 Hammer M.B....Singleton A.B. (Am. J. Hum. Genet. 2013)
    4. Identification of the non-lysosomal glucosylceramidase as beta- glucosidase 2. (PubMed id 17105727)1, 2, 9 Boot R.G.... Aerts J.M.F.G. (J. Biol. Chem. 2007)
    5. Purification and characterization of a microsomal bile acid beta- glucosidase from human liver. (PubMed id 9111029)1, 2, 9 Matern H.... Matern S. (J. Biol. Chem. 1997)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    10. The non-lysosomal I^-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi. (PubMed id 23250757)1 KAPrschen H.G....Wachten D. (J. Biol. Chem. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 57704 HGNC: 18986 AceView: GBA2 Ensembl:ENSG00000070610 euGenes: HUgn57704
    ECgene: GBA2 Kegg: 57704 H-InvDB: GBA2

    (According to HUGE)
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    HUGE: KIAA1605

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GBA2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GBA2 gene:
    Search GeneIP for patents involving GBA2

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



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