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Gba2 glucosidase beta 2 [ Mus musculus (house mouse) ]

Gene ID: 230101, updated on 26-Sep-2022

Summary

Official Symbol
Gba2provided by MGI
Official Full Name
glucosidase beta 2provided by MGI
Primary source
MGI:MGI:2654325
See related
Ensembl:ENSMUSG00000028467 AllianceGenome:MGI:2654325
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
F630034E04
Summary
Enables glucosylceramidase activity; glucosyltransferase activity; and steryl-beta-glucosidase activity. Involved in several processes, including glucosylceramide catabolic process; lipid glycosylation; and regulation of protein polymerization. Located in cytosol. Is extrinsic component of Golgi membrane and extrinsic component of endoplasmic reticulum membrane. Is expressed in several structures, including central nervous system; dorsal root ganglion; liver; lung; and neural retina. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 46. Orthologous to human GBA2 (glucosylceramidase beta 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 29.8), whole brain E14.5 (RPKM 28.2) and 28 other tissues See more
Orthologs
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Genomic context

See Gba2 in Genome Data Viewer
Location:
4; 4 A5
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (43566928..43578886, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (43566928..43578886, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene carbonic anhydrase 9 Neighboring gene tropomyosin 2, beta Neighboring gene talin 1 Neighboring gene cAMP responsive element binding protein 3 Neighboring gene RAB6A GEF compex partner 1 Neighboring gene microseminoprotein, prostate associated Neighboring gene predicted gene, 42279

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables beta-glucosidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables beta-glucosidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables beta-glucosidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables beta-glucosidase activity ISO
Inferred from Sequence Orthology
more info
 
enables galactosylceramidase activity IEA
Inferred from Electronic Annotation
more info
 
enables glucosylceramidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables glucosylceramidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables glucosylceramidase activity ISO
Inferred from Sequence Orthology
more info
 
enables glucosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables glycosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity, acting on glycosyl bonds IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity, hydrolyzing O-glycosyl compounds IEA
Inferred from Electronic Annotation
more info
 
enables steryl-beta-glucosidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
NOT involved_in bile acid metabolic process IMP
Inferred from Mutant Phenotype
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
PubMed 
involved_in central nervous system neuron development ISO
Inferred from Sequence Orthology
more info
 
involved_in cholesterol metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 glucosylceramide catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in glycoside catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in lipid glycosylation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of actin filament polymerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of membrane lipid distribution IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of microtubule polymerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within sphingolipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within steroid metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in extrinsic component of Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in extrinsic component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in extrinsic component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
non-lysosomal glucosylceramidase
Names
NLGase
beta-glucocerebrosidase 2
beta-glucosidase 2
bile acid beta-glucosidase GBA2
bile acid glucosyl transferase GBA2
cholesterol glucosyltransferase GBA2
cholesteryl-beta-glucosidase GBA2
glucosidase, beta (bile acid) 2
glucosylceramidase 2
non-lysosomal cholesterol glycosyltransferase
non-lysosomal galactosylceramidase
non-lysosomal glycosylceramidase
NP_766280.2
XP_006537895.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_172692.3NP_766280.2  non-lysosomal glucosylceramidase

    See identical proteins and their annotated locations for NP_766280.2

    Status: VALIDATED

    Source sequence(s)
    AK158174, BB869336, BC056935
    Consensus CDS
    CCDS18103.1
    UniProtKB/Swiss-Prot
    Q69ZF3, Q8BTN9
    Related
    ENSMUSP00000030189.8, ENSMUST00000030189.14
    Conserved Domains (3) summary
    pfam04685
    Location:512875
    DUF608; Protein of unknown function, DUF608
    pfam06202
    Location:610738
    GDE_C; Amylo-alpha-1,6-glucosidase
    pfam12215
    Location:157446
    GBA2_N; beta-Glucocerebrosidase 2 N terminal

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    43566928..43578886 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006537832.5XP_006537895.1  non-lysosomal glucosylceramidase isoform X1

    Conserved Domains (2) summary
    pfam04685
    Location:323686
    DUF608; Glycosyl-hydrolase family 116, catalytic region
    pfam12215
    Location:66254
    Glyco_hydr_116N; beta-glucosidase 2, glycosyl-hydrolase family 116 N-term