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GBA2 glucosylceramidase beta 2 [ Homo sapiens (human) ]

Gene ID: 57704, updated on 8-Oct-2017
Official Symbol
GBA2provided by HGNC
Official Full Name
glucosylceramidase beta 2provided by HGNC
Primary source
HGNC:HGNC:18986
See related
Ensembl:ENSG00000070610 MIM:609471; Vega:OTTHUMG00000021024
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]
Orthologs
Location:
9p13.3
Exon count:
19
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (35736862..35749255, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35736863..35749925, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene talin 1 Neighboring gene microRNA 6852 Neighboring gene microRNA 6853 Neighboring gene cAMP responsive element binding protein 3 Neighboring gene RGP1 homolog, RAB6A GEF complex partner 1 Neighboring gene natriuretic peptide receptor 2 Neighboring gene microseminoprotein, prostate associated Neighboring gene sperm associated antigen 8

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1605, MGC16895, DKFZp762K054

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-glucosidase activity IDA
Inferred from Direct Assay
more info
PubMed 
glucosylceramidase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
bile acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
bile acid metabolic process TAS
Traceable Author Statement
more info
PubMed 
central nervous system neuron development IMP
Inferred from Mutant Phenotype
more info
PubMed 
glucosylceramide catabolic process IEA
Inferred from Electronic Annotation
more info
 
glycoside catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
glycoside catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
smooth endoplasmic reticulum TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
non-lysosomal glucosylceramidase
Names
beta-glucocerebrosidase 2
glucosidase, beta (bile acid) 2
glucosylceramidase 2
NP_065995.1
XP_005251583.1
XP_006716872.1
XP_011516275.1
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_016870435.1

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_001330660.1NP_001317589.1  non-lysosomal glucosylceramidase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AB046825, AL133410, BC011363
    Consensus CDS
    CCDS83363.1
    UniProtKB/Swiss-Prot
    Q9HCG7
  2. NM_020944.2NP_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
    Q9HCG7
    Related
    ENSP00000367343.3, OTTHUMP00000022759, ENST00000378103.7, OTTHUMT00000055456
    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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

    Range
    35736862..35749255 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716809.3XP_006716872.1  non-lysosomal glucosylceramidase isoform X1

    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
  2. XM_011517973.2XP_011516275.1  non-lysosomal glucosylceramidase isoform X5

    Related
    ENSP00000367334.4, OTTHUMP00000022760, ENST00000378094.4, OTTHUMT00000055458
    Conserved Domains (3) summary
    pfam04685
    Location:521835
    DUF608; Protein of unknown function, DUF608
    pfam06202
    Location:619747
    GDE_C; Amylo-alpha-1,6-glucosidase
    pfam12215
    Location:166455
    GBA2_N; beta-Glucocerebrosidase 2 N terminal
  3. XM_017014946.1XP_016870435.1  non-lysosomal glucosylceramidase isoform X13

    UniProtKB/Swiss-Prot
    Q9HCG7
  4. XM_017014937.1XP_016870426.1  non-lysosomal glucosylceramidase isoform X3

  5. XM_005251526.4XP_005251583.1  non-lysosomal glucosylceramidase isoform X2

    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_017014938.1XP_016870427.1  non-lysosomal glucosylceramidase isoform X4

  7. XM_017014940.1XP_016870429.1  non-lysosomal glucosylceramidase isoform X7

  8. XM_017014943.1XP_016870432.1  non-lysosomal glucosylceramidase isoform X10

  9. XM_017014942.1XP_016870431.1  non-lysosomal glucosylceramidase isoform X9

  10. XM_017014945.1XP_016870434.1  non-lysosomal glucosylceramidase isoform X12

  11. XM_017014944.1XP_016870433.1  non-lysosomal glucosylceramidase isoform X11

  12. XM_017014939.1XP_016870428.1  non-lysosomal glucosylceramidase isoform X6

  13. XM_017014941.1XP_016870430.1  non-lysosomal glucosylceramidase isoform X8

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    35737266..35749629 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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