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Tchem
GBA2
Non-lysosomal glucosylceramidase

Protein Summary
Description
Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide (GlcCer) to free glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo. Plays a role in central nevous system development. Required for proper formation of motor neuron axons. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000378094
  • ENSP00000367334
  • ENSG00000070610
  • ENST00000378103
  • ENSP00000367343

Symbol
  • KIAA1605
  • AD035
  • SPG46
  • NLGase
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
virus perturbation
0.72
cell line
0.71
transcription factor perturbation
0.68
tissue sample
0.65
cellular component
0.64


Protein Classes
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 81.44   (req: < 5)
Gene RIFs: 27   (req: <= 3)
Antibodies: 94   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 81.44   (req: >= 5)
Gene RIFs: 27   (req: > 3)
Antibodies: 94   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 115
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 1
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Active Ligands (115)
CHEMBL3354624
Rendered image for CHEMBL3354624
CHEMBL3354625
Rendered image for CHEMBL3354625
CHEMBL3354025
Rendered image for CHEMBL3354025
CHEMBL3354621
Rendered image for CHEMBL3354621
CHEMBL3354623
Rendered image for CHEMBL3354623
CHEMBL3354063
Rendered image for CHEMBL3354063
CHEMBL1088158
Rendered image for CHEMBL1088158
isofagomine
Rendered image for isofagomine
Protein-Protein Interactions (152)
ILVBL
Tbio
Family:  Enzyme
Novelty:  0.00297467
p_int:  0.999998916
p_ni:  7.63e-7
p_wrong:  3.21e-7
Score:  0.412
Data Source:  BioPlex,STRINGDB
ASAH2
Tbio
Family:  Enzyme
Novelty:  0.01413539
Score:  0.958
Data Source:  STRINGDB
SGMS2
Tchem
Family:  Enzyme
Novelty:  0.01360669
Score:  0.955
Data Source:  STRINGDB
ACER2
Tchem
Family:  Enzyme
Novelty:  0.040885
Score:  0.952
Data Source:  STRINGDB
ACER1
Tbio
Family:  Enzyme
Novelty:  0.05571844
Score:  0.947
Data Source:  STRINGDB
ASAH1
Tchem
Family:  Enzyme
Novelty:  0.00374228
Score:  0.944
Data Source:  STRINGDB
UGCG
Tclin
Family:  Enzyme
Novelty:  0.00481791
Score:  0.943
Data Source:  STRINGDB
CERK
Tchem
Family:  Kinase
Novelty:  0.0103948
Score:  0.942
Data Source:  STRINGDB
DEGS1
Tchem
Family:  Enzyme
Novelty:  0.00300325
Score:  0.938
Data Source:  STRINGDB
SGMS1
Tchem
Family:  Enzyme
Novelty:  0.01717229
Score:  0.934
Data Source:  STRINGDB
Pathways (8)
Glycosphingolipid metabolism (R-HSA-1660662)

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Find Similar Targets
Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Glycosphingolipid metabolism
Reactome
Metabolism
Reactome
Metabolism of lipids
Reactome
Sphingolipid metabolism
Name
Explore in Pharos
Explore in Source
Glycosphingolipid metabolism
Metabolism
Metabolism of lipids
Sphingolipid metabolism
Viral Interactions (0)
No viral interactions found
Disease Associations ()
No disease associations found
GWAS Traits (14)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
myeloid white cell count
1
1
1
74.8
lymphocyte count
2
1
2
74.4
leukocyte count
1
1
1
68.6
red blood cell distribution width
1
1
1
64
body height
1
1
1
62.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
myeloid white cell count
1
74.8
lymphocyte count
2
74.4
leukocyte count
1
68.6
red blood cell distribution width
1
64
body height
1
62.5
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (14)
1 – 5 of 14
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
glucosylceramidase beta 2
VGNC:8825
104001058
Macaque
glucosylceramidase beta 2
696062
Mouse
MGI:2654325
230101
Rat
RGD:1305598
298399
Dog
glucosylceramidase beta 2
VGNC:41131
474760
Species
Name
OMA
EggNOG
Inparanoid
Chimp
glucosylceramidase beta 2
Macaque
glucosylceramidase beta 2
Mouse
Rat
Dog
glucosylceramidase beta 2
Publication Statistics
PubMed Score 81.44
PubMed score by year
PubTator Score 25.33
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title