GBA2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | GBA2 |
| Official Name | glucosylceramidase beta 2 [Source:HGNC Symbol;Acc:HGNC:18986] |
| Ensembl ID | ENSG00000070610 |
| Bio databases IDs | |
| Aliases | glucosylceramidase beta 2, bile acid beta-glucosidase, non-lysosomal glucosylceramidase, glucocerebrosidase 2 |
| Synonyms | AD035, BILE ACID beta-GLUCOSIDASE, BILE ACID β-GLUCOSIDASE, F630034E04, glucosidase beta 2, glucosidase β 2, glucosylceramidase beta 2, glucosylceramidase β 2, neutral glucosylceramidase, NLGase, SPG46 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GBA2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- steryl-beta-glucosidase
- glucosylceramidase
- Glycosyl-hydrolase family 116, catalytic region
- beta-glucosidase 2, glycosyl-hydrolase family 116 N-term
- glucosyltransferase
- enzyme
- beta-glucosidase
Pathways
Biological processes and signaling networks where the GBA2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- autosomal recessive spastic paraplegia type 46
- Parkinson disease
- non-insulin-dependent diabetes mellitus
- hereditary spastic paraplegia
- neurodevelopmental disorder
- spastic paraplegia
- colorectal adenoma
- colorectal adenoma formation
- globozoospermia
regulates
- D-glucose
- lipid
- glucosylceramide
- D-erythro-C24:0-ceramide
- bile acid
- omega-O-acylceramide
- D-erythro-C16-ceramide
- enzyme
- cholesteryl-beta-D-glucoside
- glycosphingolipid
role in cell
- apoptosis
- abnormal morphology
- development
- generation in
- morphology
- degradation in
- endoplasmic reticulum stress response in
- motility
- polymerization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Plasma Membrane
- Endoplasmic Reticulum
- cytosol
- endoplasmic reticulum membrane
- Golgi membrane
- cis Golgi networks
- smooth endoplasmatic reticulum
- microsomal membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GBA2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycoside catabolic process
- glucosylceramide catabolic process
- glycosphingolipid catabolic process
- cholesterol metabolic process
- central nervous system neuron development
- bile acid metabolic process
- regulation of actin filament polymerization
- carbohydrate metabolic process
- central nervous system development
- regulation of membrane lipid distribution
- regulation of microtubule polymerization
- lipid glycosylation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- smooth endoplasmic reticulum
- membrane
- cytosol
- Golgi membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- glucosylceramidase activity
- galactosylceramidase activity
- steryl-beta-glucosidase activity
- beta-glucosidase activity
- glucosyltransferase activity