GBA2 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0097035Biological processregulation of membrane lipid distribution
GO_0008206Biological processbile acid metabolic process
GO_0030833Biological processregulation of actin filament polymerization
GO_0005975Biological processcarbohydrate metabolic process
GO_0008203Biological processcholesterol metabolic process
GO_0016139Biological processglycoside catabolic process
GO_0046479Biological processglycosphingolipid catabolic process
GO_0021954Biological processcentral nervous system neuron development
GO_0007417Biological processcentral nervous system development
GO_0030259Biological processlipid glycosylation
GO_0031113Biological processregulation of microtubule polymerization
GO_0006680Biological processglucosylceramide catabolic process
GO_0005886Cellular componentplasma membrane
GO_0016020Cellular componentmembrane
GO_0005789Cellular componentendoplasmic reticulum membrane
GO_0005790Cellular componentsmooth endoplasmic reticulum
GO_0000139Cellular componentGolgi membrane
GO_0005829Cellular componentcytosol
GO_0004336Molecular functiongalactosylceramidase activity
GO_0008422Molecular functionbeta-glucosidase activity
GO_0050295Molecular functionsteryl-beta-glucosidase activity
GO_0046527Molecular functionglucosyltransferase activity
GO_0004348Molecular functionglucosylceramidase activity

IV. Literature review

[source]
Gene nameGBA2
Protein nameGlucosylceramidase beta 2
Non-lysosomal glucosylceramidase (NLGase) (EC 3.2.1.45) (Beta-glucocerebrosidase 2) (Beta-glucosidase 2) (Bile acid beta-glucosidase GBA2) (Bile acid glucosyl transferase GBA2) (Cholesterol glucosyltransferase GBA2) (EC 2.4.1.-) (Cholesteryl-beta-glucosidase GBA2) (EC 3.2.1.-) (Glucosylceramidase 2) (Non-lysosomal cholesterol glycosyltransferase) (Non-lysosomal galactosylceramidase) (EC 3.2.1.46) (Non-lysosomal glycosylceramidase)
SynonymsAD035
KIAA1605
SPG46
DescriptionFUNCTION: Non-lysosomal glucosylceramidase that catalyzes the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) to free glucose and ceramides (such as N-acylsphing-4-enine) . GlcCers are membrane glycosphingolipids that have a wide intracellular distribution (By similarity). They are the main precursors of more complex glycosphingolipids that play a role in cellular growth, differentiation, adhesion, signaling, cytoskeletal dynamics and membrane properties (By similarity). Involved in the transglucosylation of cholesterol, transfers glucose from GlcCer to cholesterol, thereby modifying its water solubility and biological properties . Under specific conditions, may catalyze the reverse reaction, transferring glucose from cholesteryl-3-beta-D-glucoside to ceramide (such as N-acylsphing-4-enine) (Probable). May play a role in the metabolism of bile acids . Able to hydrolyze bile acid 3-O-glucosides as well as to produce bile acid-glucose conjugates thanks to a bile acid glucosyl transferase activity . Catalyzes the hydrolysis of galactosylceramides/GalCers (such as beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine), as well as the galactosyl transfer between GalCers and cholesterol in vitro with lower activity compared with their activity against GlcCers . .

AccessionsENST00000378103.7 [Q9HCG7-1]
A0A0A0MRV1
ENST00000378094.4 [Q9HCG7-2]
ENST00000378088.1
Q9HCG7