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glucosylceramidase beta 2

Summary

Gene Symbol

GBA2

Aliases

AD035
DKFZp762K054
KIAA1605
bile acid beta-glucosidase
glucocerebrosidase 2
non-lysosomal glucosylceramidase

Organism

Homo sapiens (human)

External Links

NCBI Gene

57704

HGNC

18986

KEGG Gene ID

hsa:57704

PubChem

57704

Alliance of Genome Resources

HGNC:18986

JoGo

GBA2

TogoVar

GBA2

Annotation

Keyword

Alternative splicing
Cholesterol metabolism
Direct protein sequencing
Disease variant
Endoplasmic reticulum
Glycosidase
Glycosyltransferase
Golgi apparatus
Hereditary spastic paraplegia
Membrane
Proteomics identification
Reference proteome
Sphingolipid metabolism

Proteins

Displaying 1 entry
UniProt	Protein Name
Q9HCG7	Beta-glucocerebrosidase 2 Bile acid beta-glucosidase GBA2 Bile acid glucosyl transferase GBA2 Cholesterol glucosyltransferase GBA2 Cholesteryl-beta-glucosidase GBA2 Glucosylceramidase 2 Non-lysosomal cholesterol glycosyltransferase Non-lysosomal galactosylceramidase Non-lysosomal glycosylceramidase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 23 in total

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GO Term	Evidence Code	PMID
carbohydrate metabolic process	IEA
sphingolipid metabolic process	IEA
glucosylceramide catabolic process	IDA
glucosylceramide catabolic process	IMP
glucosylceramide catabolic process	IEA

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

catabolic process [inference]

lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

carbohydrate derivative catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

glycosyl compound catabolic process [inference]

glycoside catabolic process

biosynthetic process [inference]

lipid biosynthetic process [inference]

glycolipid biosynthetic process

carbohydrate derivative biosynthetic process [inference]

glycolipid biosynthetic process

primary metabolic process [inference]

carbohydrate metabolic process

lipid metabolic process [inference]

sphingolipid metabolic process

ceramide metabolic process [inference]

glycosylceramide metabolic process [inference]

glucosylceramide metabolic process [inference]

glucosylceramide catabolic process

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

glycosphingolipid metabolic process [inference]

glycosylceramide metabolic process [inference]

glucosylceramide metabolic process [inference]

glucosylceramide catabolic process

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

glycosphingolipid catabolic process

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

steroid metabolic process

bile acid metabolic process

sterol metabolic process [inference]

cholesterol metabolic process

lipid biosynthetic process [inference]

glycolipid biosynthetic process

lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

ceramide catabolic process [inference]

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosylceramide metabolic process [inference]

glucosylceramide metabolic process [inference]

glucosylceramide catabolic process

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

glycosphingolipid catabolic process

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

glycolipid biosynthetic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

small molecule metabolic process [inference]

alcohol metabolic process [inference]

secondary alcohol metabolic process [inference]

cholesterol metabolic process

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

bile acid metabolic process

carbohydrate derivative metabolic process [inference]

glycoside metabolic process [inference]

glycoside catabolic process

carbohydrate derivative catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

glycosyl compound catabolic process [inference]

glycoside catabolic process

carbohydrate derivative biosynthetic process [inference]

glycolipid biosynthetic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosylceramide metabolic process [inference]

glucosylceramide metabolic process [inference]

glucosylceramide catabolic process

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

glycosphingolipid catabolic process

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

glycolipid biosynthetic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

glycosylceramide catabolic process [inference]

glucosylceramide catabolic process

cellular developmental process [inference]

cell development [inference]

neuron development [inference]

central nervous system neuron development

cellular component organization or biogenesis [inference]

cellular component organization [inference]

regulation of cellular component size [inference]

regulation of actin filament length [inference]

regulation of actin polymerization or depolymerization [inference]

regulation of actin filament polymerization

membrane organization [inference]

regulation of membrane lipid distribution

developmental process [inference]

anatomical structure development [inference]

cell development [inference]

neuron development [inference]

central nervous system neuron development

system development [inference]

central nervous system development

cellular developmental process [inference]

cell development [inference]

neuron development [inference]

central nervous system neuron development

biological regulation [inference]

regulation of biological process [inference]

regulation of cellular process [inference]

regulation of microtubule-based process [inference]

regulation of microtubule cytoskeleton organization [inference]

regulation of microtubule polymerization or depolymerization [inference]

regulation of microtubule polymerization

regulation of actin filament-based process [inference]

regulation of actin cytoskeleton organization [inference]

regulation of actin filament length [inference]

regulation of actin polymerization or depolymerization [inference]

regulation of actin filament polymerization

regulation of actin filament organization [inference]

regulation of actin polymerization or depolymerization [inference]

regulation of actin filament polymerization

regulation of cellular component biogenesis [inference]

regulation of protein-containing complex assembly [inference]

regulation of protein polymerization [inference]

regulation of cellular component organization [inference]

regulation of organelle organization [inference]

regulation of cytoskeleton organization [inference]

regulation of actin cytoskeleton organization [inference]

regulation of actin filament length [inference]

regulation of actin polymerization or depolymerization [inference]

regulation of actin filament polymerization

regulation of actin filament organization [inference]

regulation of actin polymerization or depolymerization [inference]

regulation of actin filament polymerization

regulation of microtubule cytoskeleton organization [inference]

regulation of microtubule polymerization or depolymerization [inference]

regulation of microtubule polymerization

regulation of protein-containing complex assembly [inference]

regulation of protein polymerization [inference]

regulation of supramolecular fiber organization [inference]

regulation of microtubule polymerization

regulation of actin filament organization [inference]

regulation of actin polymerization or depolymerization [inference]

regulation of actin filament polymerization

regulation of biological quality [inference]

regulation of anatomical structure size [inference]

regulation of cellular component size [inference]

regulation of actin filament length [inference]

regulation of actin polymerization or depolymerization [inference]

regulation of actin filament polymerization

regulation of membrane lipid distribution

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GO Term	Evidence Code	PMID
Golgi membrane	ISS
Golgi membrane	IEA
endoplasmic reticulum	IEA
endoplasmic reticulum membrane	ISS
endoplasmic reticulum membrane	IEA

GO Hierarchy

cellular component

cellular anatomical structure [inference]

cytosol

membrane

plasma membrane

organelle membrane [inference]

endoplasmic reticulum membrane

bounding membrane of organelle [inference]

Golgi membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

smooth endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

smooth endoplasmic reticulum

Displaying entries **1 - 5** of 14 in total

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GO Term	Evidence Code	PMID
galactosylceramidase activity	IEA
glucosylceramidase activity	TAS
glucosylceramidase activity	IDA
glucosylceramidase activity	IMP
glucosylceramidase activity	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

hexosyltransferase activity [inference]

glucosyltransferase activity

hydrolase activity [inference]

hydrolase activity, acting on glycosyl bonds [inference]

hydrolase activity, hydrolyzing O-glycosyl compounds

glucosidase activity [inference]

beta-glucosidase activity

steryl-beta-glucosidase activity

glycosylceramidase activity [inference]

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Non-lysosomal glucosylceramidase

Functional Category

G: Carbohydrate transport and metabolism
J: Translation, ribosomal structure and biogenesis

Displaying **all 6** entries
Gene Ontology
central nervous system development
glucosylceramidase activity
glucosylceramide catabolic process
hydrolase activity, acting on glycosyl bonds
hydrolase activity
lipid metabolic process

Displaying **all 5** entries
InterPro
Beta-glucosidase GBA2-type
Glycosyl-hydrolase family 116, N-terminal
Glycosyl-hydrolase family 116, catalytic region
Six-hairpin glycosidase superfamily
Six-hairpin glycosidase-like superfamily

Human Protein Atlas

ENSG00000070610

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K17108

Name

non-lysosomal glucosylceramidase [EC:3.2.1.45]

References

Rhea

RHEA:14297

H₂O + a β-D-galactosyl-(1↔1ʼ)-N-acylsphing-4-enine

D-galactose + an N-acylsphing-4-enine

Enzyme

3.2.1.46

PMID

RHEA:13269

H₂O + a β-D-glucosyl-(1↔1ʼ)-N-acylsphing-4-enine

D-glucose + an N-acylsphing-4-enine

Enzyme

3.2.1.45

PMID

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0110798	hereditary spastic paraplegia 46	Alliance of Genome Resources

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000020	Urinary incontinence
HP:0000365	Hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000518	Cataract
HP:0000570	Abnormal saccadic eye movements
HP:0000639	Nystagmus
HP:0000726	Dementia
HP:0000789	Infertility
HP:0001249	Intellectual disability

Displaying **all 3** entries
Disease ID	Disease Name
ORPHA:320391	hereditary spastic paraplegia 46
OMIM:614409	hereditary spastic paraplegia 46
ORPHA:352641	autosomal recessive cerebellar ataxia with late-onset spasticity