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Gba2
Gene Detail
 Symbol
Name
ID
Gba2
glucosidase beta 2
MGI:2654325
Synonyms bile acid
Feature Type protein coding gene
Genetic Map
Chromosome 4
23.05 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr4:43566928-43578873 bp, - strand
From VEGA annotation of GRCm38

  11946 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10859  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: beta-glucosidase, GBA2 type
Gene Tree: Gba2

Human
homologs
Human Homolog GBA2, glucosidase, beta (bile acid) 2
NCBI Gene ID 57704
neXtProt AC  NX_Q9HCG7
Human Synonyms  SPG46
Human Chr (Location)  9p13.3; chr9:35736862-35749228 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human GBA2
Alleles
and
phenotypes
All alleles(4) : Gene trapped(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit accumulation of glucosylceramides in multiple tissues, and show impaired male fertility associated with globozoospermia, oligozoospermia, reduced sperm motility, and male germ cell apoptosis.
 
Gene Ontology
(GO)
classifications
All GO classifications: (19 annotations)
Process bile acid metabolic process, central nervous system neuron development, ...
Component endoplasmic reticulum, Golgi apparatus, ...
Function beta-glucosidase activity, catalytic activity, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (226)    Tissues (43)    Images (37)
Theiler Stages: 22, 23, 24, 26, 28
Assay TypeResults
RNA in situ 226
cDNA source data(6)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(7) cDNA(7)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000006971 (Evidence)
Ensembl Gene ModelENSMUSG00000028467 (Evidence)
Entrez Gene230101 (Evidence)
NIA Mouse Gene IndexU024991
EC3.2.1.45
Consensus CDS ProjectCCDS18103.1
International Mouse Knockout Project StatusGba2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006971 VEGA Gene Model | MGI Sequence Detail 11946 C57BL/6J ±  kb
transcript OTTMUST00000016147 VEGA | MGI Sequence Detail 3544 Not Applicable 
polypeptide OTTMUSP00000007403 VEGA | MGI Sequence Detail 918 Not Applicable 

For the selected sequences
All sequences(49) RefSeq(4) UniProt(2)
Polymorphisms SNPs within 2kb(75 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR014551 Beta-glucosidase, GBA2 type
InterPro IPR024462 Beta-glucosidase, GBA2 type, N-terminal
InterPro IPR006775 Glucosylceramidase
InterPro IPR008928 Six-hairpin glycosidase-like
Protein Ontology PR:000007868 non-lysosomal glucosylceramidase
References (Earliest) J:91812 Stryke D, et al., BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Nucleic Acids Res. 2003 Jan 1;31(1):278-81
(Latest) J:207369 Mistry PK, et al., Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease. Proc Natl Acad Sci U S A. 2014 Apr 1;111(13):4934-9
All references(40)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory