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
Exhibits beta-glucosidase activity. Involved in axonogenesis and central nervous system development. Localizes to 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
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Martin et al., 2013
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gba2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
hereditary spastic paraplegia 46 Alliance Spastic paraplegia 46, autosomal recessive 614409
Associated With gba2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
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:E7F5W0 851
UniProtKB:F8W624 63
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations