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

• Q9HCG7
• D3DRP2
• Q5TCV6
• Q96A51
• Q96LY1
• Q96SJ2
• Q9H2L8
• NLGase

Gene Name

• GBA2

Ensembl ID

• ENST00000378094
• ENSP00000367334
• ENSG00000070610
• ENST00000378103
• ENSP00000367343

Symbol

• KIAA1605
• AD035
• SPG46
• NLGase

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: 88.5   (req: < 5)

Gene RIFs: 30   (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: 88.5   (req: >= 5)

Gene RIFs: 30   (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