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 and central nervous system development. Located in plasma membrane. 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
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Martin et al., 2013
- Cross-Species Comparison
- Alliance
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 |
| Homologous_superfamily | IPR008928 | Six-hairpin glycosidase superfamily |
| Homologous_superfamily | IPR012341 | Six-hairpin glycosidase-like superfamily |
Domain Details Per Protein
| Protein | Length | Beta-glucosidase GBA2-type | Glycosyl-hydrolase family 116, catalytic region | Glycosyl-hydrolase family 116, N-terminal | Six-hairpin glycosidase-like superfamily | Six-hairpin glycosidase superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:F8W624
|
63 | |||||
|
UniProtKB:E7F5W0
|
851 |
Interactions and Pathways
No data available
Plasmids
No data available