Gene
gba2
- ID
- ZDB-GENE-070522-3
- Name
- glucosidase, beta (bile acid) 2
- Symbol
- gba2 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Enables beta-glucosidase activity. Acts upstream of or within axonogenesis; central nervous system development; and glucosylceramide metabolic process. Located in plasma membrane. Is expressed in fertilized egg and oocyte. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 46. Orthologous to human GBA2 (glucosylceramidase beta 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from Lelieveld et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary spastic paraplegia 46 | Alliance | Spastic paraplegia 46, autosomal recessive | 614409 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR006775 | Glycosyl-hydrolase family 116, catalytic region |
| Domain | IPR024462 | Glycosyl-hydrolase family 116, N-terminal |
| Family | IPR014551 | Beta-glucosidase GBA2-type |
| Family | IPR052566 | Non-lysosomal glucosylceramidase |
| Homologous_superfamily | IPR008928 | Six-hairpin glycosidase superfamily |
| Homologous_superfamily | IPR012341 | Six-hairpin glycosidase-like superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Beta-glucosidase GBA2-type | Glycosyl-hydrolase family 116, catalytic region | Glycosyl-hydrolase family 116, N-terminal | Non-lysosomal glucosylceramidase | Six-hairpin glycosidase-like superfamily | Six-hairpin glycosidase superfamily |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:E7F5W0 | InterPro | 851 |
Interactions and Pathways
No data available
Plasmids
No data available