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

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: human all
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Genomic context

Location:: 4 A5; 4 23.05 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (43566928..43578893, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (43566928..43578886, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In heterozygous GBA1 mutant mice, there was also significantly reduced GBA2 GCase enzyme activity specifically within the hippocampus. Such reductions in GBA2 GCase enzyme could contribute to the pathological and behavioural effects seen.
Title: Age-related neurochemical and behavioural changes in D409V/WT GBA1 mouse: Relevance to lewy body dementia.
results shed light on the molecular mechanism underlying the pathogenesis of GBA2-related hereditary spastic paraplegia (HSP), autosomal-recessive cerebellar ataxia (ARCA) and reveal species-specific differences in GBA2 function in vivo
Title: Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations.
sphingosine, the cytotoxic metabolite accumulating in Gaucher cells through the action of GBA2, directly binds to GBA2 and inhibits its activity.
Title: Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease.
GBA2 is particularly abundant in Purkinje cells (PCs), one of the most affected neuronal populations in NPC disease.
Title: Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice.
glucosylceramide accumulation in GBA2 knockout-mice alters cytoskeletal dynamics due to a more ordered lipid organization in the plasma membrane. Similar cytoskeletal defects were observed in male germ and Sertoli cells from GBA2 knockout-mice.
Title: Accumulation of glucosylceramide in the absence of the beta-glucosidase GBA2 alters cytoskeletal dynamics.
the deletion of Gba2 significantly rescues the type 1 Gaucher disease clinical phenotype.
Title: Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.
redefine GBA2 activity as the beta-glucosidase that is sensitive to inhibition by N-butyldeoxygalactonojirimycin.
Title: β-Glucosidase 2 (GBA2) activity and imino sugar pharmacology.
GBA2 is localized at the ER and Golgi, which puts GBA2 in a key position for a lysosome-independent route of glucosylceramide-dependent signaling.
Title: The non-lysosomal β-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi.
The repression of IL-6/STAT3 signalling pathway seems to be one of the mechanisms for the delay of liver regeneration in GBA2-deficient mice.
Title: Beta-glucosidase 2 knockout mice with increased glucosylceramide show impaired liver regeneration.
GBA1 and GBA2 activities had characteristic differences between the studied fibroblast, liver and brain samples.
Title: Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humans.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW538053 (e-PCR)
- UniSTS:178990

NoName (e-PCR)
- UniSTS:234909

NoName (e-PCR)
- UniSTS:234911

C80076 (e-PCR)
- UniSTS:159230

AU044960 (e-PCR)
- UniSTS:159231

Gene Ontology Provided by MGI

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 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
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 Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info

General protein information

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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_001411964.1

EC 3.2.1.45

EC 3.2.1.46

NP_766280.2

EC 3.2.1.45

EC 3.2.1.46

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)

NM_001425035.1 → NP_001411964.1 non-lysosomal glucosylceramidase isoform 2

Status: VALIDATED

Source sequence(s)

AL732626
NM_172692.4 → NP_766280.2 non-lysosomal glucosylceramidase isoform 1

See identical proteins and their annotated locations for NP_766280.2

Status: VALIDATED

Source sequence(s)

AL732626

Consensus CDS

CCDS18103.1

UniProtKB/Swiss-Prot

Q69ZF3, Q6PGM3, Q8BTN9

Related

ENSMUSP00000030189.8, ENSMUST00000030189.14

Conserved Domains (3) summary

pfam04685
Location:512 → 875

DUF608; Protein of unknown function, DUF608

pfam06202
Location:610 → 738

GDE_C; Amylo-alpha-1,6-glucosidase

pfam12215
Location:157 → 446

GBA2_N; beta-Glucocerebrosidase 2 N terminal