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    GBA2 glucosylceramidase beta 2 [ Homo sapiens (human) ]

    Gene ID: 57704, updated on 27-Nov-2024

    Summary

    Official Symbol
    GBA2provided by HGNC
    Official Full Name
    glucosylceramidase beta 2provided by HGNC
    Primary source
    HGNC:HGNC:18986
    See related
    Ensembl:ENSG00000070610 MIM:609471; AllianceGenome:HGNC:18986
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AD035; SPG46; NLGase
    Summary
    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]
    Expression
    Ubiquitous expression in small intestine (RPKM 30.3), duodenum (RPKM 27.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See GBA2 in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35736866..35749228, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35757546..35769909, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35736863..35749225, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene talin 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:35710778-35711977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:35714704-35715608 Neighboring gene microRNA 6852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:35726478-35727190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:35727191-35727904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28334 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28335 Neighboring gene microRNA 6853 Neighboring gene cAMP responsive element binding protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19877 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19878 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:35752887-35754086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19879 Neighboring gene RGP1 homolog, RAB6A GEF complex partner 1 Neighboring gene microseminoprotein, prostate associated Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19880 Neighboring gene natriuretic peptide receptor 2 Neighboring gene sperm associated antigen 8

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Specific alterations of the N-linked carbohydrates on HIV-1 gp120 and gp41 by glucosidases and mannosidase inhibitors can enhance mannose-binding lectin (MBL)-mediated neutralization of virus by strengthening the interaction of HIV-1 with MBL PubMed
    env Glucosidase inhibitors inhibit the syncytium formation between HIV-infected and CD4-expressing cells and interfere with HIV-1 infectivity, indicating processing of HIV-1 gp120 by glucosidase is important for virus replication PubMed
    env HIV-1 gp120 is extremely heavily glycosylated (31-36 N-linked glycans per molecule) by glucosidase PubMed
    Envelope surface glycoprotein gp160, precursor env Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus PubMed
    Envelope transmembrane glycoprotein gp41 env Mannose-containing, N-linked oligosaccharide side-chains of HIV-1 gp41 are involved in the initial stage of infection by HIV-1; glycosylation inhibitors block virus-cell and cell-cell fusion and release of the virions PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1605, MGC16895, DKFZp762K054

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-glucosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables beta-glucosidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables galactosylceramidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables glucosylceramidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glucosylceramidase activity TAS
    Traceable Author Statement
    more info
     
    enables glucosyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables steryl-beta-glucosidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in bile acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in bile acid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in central nervous system neuron development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glucosylceramide catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glucosylceramide catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glycoside catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glycoside catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in glycosphingolipid catabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in lipid glycosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of actin filament polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of membrane lipid distribution ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of microtubule polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Golgi membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in smooth endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    non-lysosomal glucosylceramidase
    Names
    beta-glucocerebrosidase 2
    bile acid beta-glucosidase GBA2
    bile acid glucosyl transferase GBA2
    cholesterol glucosyltransferase GBA2
    cholesteryl-beta-glucosidase GBA2
    glucocerebrosidase 2
    glucosidase, beta (bile acid) 2
    glucosylceramidase 2
    non-lysosomal cholesterol glycosyltransferase
    non-lysosomal galactosylceramidase
    non-lysosomal glycosylceramidase
    NP_001317589.1
    NP_065995.1
    XP_005251583.1
    XP_006716872.1
    XP_016870426.1
    XP_016870427.1
    XP_016870428.1
    XP_016870429.1
    XP_016870430.1
    XP_016870431.1
    XP_016870432.1
    XP_016870433.1
    XP_016870434.1
    XP_047279568.1
    XP_054219312.1
    XP_054219313.1
    XP_054219314.1
    XP_054219315.1
    XP_054219316.1
    XP_054219317.1
    XP_054219318.1
    XP_054219319.1
    XP_054219320.1
    XP_054219321.1
    XP_054219322.1
    XP_054219323.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033899.1 RefSeqGene

      Range
      5001..17363
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330660.2NP_001317589.1  non-lysosomal glucosylceramidase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AB046825, AL133410, BC011363
      Consensus CDS
      CCDS83363.1
      UniProtKB/TrEMBL
      B7Z3J6
      Related
      ENSP00000367334.4, ENST00000378094.4
    2. NM_020944.3NP_065995.1  non-lysosomal glucosylceramidase isoform 1

      See identical proteins and their annotated locations for NP_065995.1

      Status: REVIEWED

      Source sequence(s)
      AJ309567
      Consensus CDS
      CCDS6589.1
      UniProtKB/Swiss-Prot
      D3DRP2, Q5TCV6, Q96A51, Q96LY1, Q96SJ2, Q9H2L8, Q9HCG7
      UniProtKB/TrEMBL
      B7Z3J6
      Related
      ENSP00000367343.3, ENST00000378103.7
      Conserved Domains (2) summary
      pfam04685
      Location:521884
      DUF608; Glycosyl-hydrolase family 116, catalytic region
      pfam12215
      Location:166455
      Glyco_hydr_116N; beta-glucosidase 2, glycosyl-hydrolase family 116 N-term

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      35736866..35749228 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014940.3XP_016870429.1  non-lysosomal glucosylceramidase isoform X6

      UniProtKB/TrEMBL
      B7Z3J6
    2. XM_017014941.3XP_016870430.1  non-lysosomal glucosylceramidase isoform X7

      UniProtKB/TrEMBL
      B7Z3J6
    3. XM_017014937.3XP_016870426.1  non-lysosomal glucosylceramidase isoform X3

      UniProtKB/TrEMBL
      B7Z3J6
    4. XM_017014939.3XP_016870428.1  non-lysosomal glucosylceramidase isoform X5

      UniProtKB/TrEMBL
      B7Z3J6
    5. XM_005251526.6XP_005251583.1  non-lysosomal glucosylceramidase isoform X2

      UniProtKB/TrEMBL
      B7Z3J6
      Conserved Domains (2) summary
      pfam04685
      Location:527868
      DUF608; Protein of unknown function, DUF608
      pfam12215
      Location:166461
      GBA2_N; beta-Glucocerebrosidase 2 N terminal
    6. XM_006716809.5XP_006716872.1  non-lysosomal glucosylceramidase isoform X1

      UniProtKB/TrEMBL
      B7Z3J6
      Conserved Domains (3) summary
      pfam04685
      Location:527890
      DUF608; Protein of unknown function, DUF608
      pfam06202
      Location:625753
      GDE_C; Amylo-alpha-1,6-glucosidase
      pfam12215
      Location:166461
      GBA2_N; beta-Glucocerebrosidase 2 N terminal
    7. XM_017014938.3XP_016870427.1  non-lysosomal glucosylceramidase isoform X4

      UniProtKB/TrEMBL
      B7Z3J6
    8. XM_017014943.3XP_016870432.1  non-lysosomal glucosylceramidase isoform X9

      UniProtKB/TrEMBL
      B4DMF0
    9. XM_017014942.3XP_016870431.1  non-lysosomal glucosylceramidase isoform X8

      UniProtKB/TrEMBL
      B4DMF0
    10. XM_047423612.1XP_047279568.1  non-lysosomal glucosylceramidase isoform X11

    11. XM_017014945.1XP_016870434.1  non-lysosomal glucosylceramidase isoform X11

      UniProtKB/TrEMBL
      B4DMF0
    12. XM_017014944.1XP_016870433.1  non-lysosomal glucosylceramidase isoform X10

      UniProtKB/TrEMBL
      B4DMF0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      35757546..35769909 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363342.1XP_054219317.1  non-lysosomal glucosylceramidase isoform X6

    2. XM_054363343.1XP_054219318.1  non-lysosomal glucosylceramidase isoform X7

    3. XM_054363339.1XP_054219314.1  non-lysosomal glucosylceramidase isoform X3

    4. XM_054363341.1XP_054219316.1  non-lysosomal glucosylceramidase isoform X5

    5. XM_054363338.1XP_054219313.1  non-lysosomal glucosylceramidase isoform X2

    6. XM_054363337.1XP_054219312.1  non-lysosomal glucosylceramidase isoform X1

    7. XM_054363340.1XP_054219315.1  non-lysosomal glucosylceramidase isoform X4

    8. XM_054363345.1XP_054219320.1  non-lysosomal glucosylceramidase isoform X9

    9. XM_054363344.1XP_054219319.1  non-lysosomal glucosylceramidase isoform X8

    10. XM_054363347.1XP_054219322.1  non-lysosomal glucosylceramidase isoform X11

    11. XM_054363348.1XP_054219323.1  non-lysosomal glucosylceramidase isoform X11

    12. XM_054363346.1XP_054219321.1  non-lysosomal glucosylceramidase isoform X10