GBA2 information

GBA2
Identifiers
Aliases	GBA2, SPG46, AD035, NLGase, glucosylceramidase beta 2
External IDs	OMIM: 609471; MGI: 2654325; HomoloGene: 10859; GeneCards: GBA2; OMA:GBA2 - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	35,749,228 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	43,578,873 bp
RNA expression pattern
	Top expressed in
	transverse colon; ; right lobe of thyroid gland; ; rectum; ; left lobe of thyroid gland; ; anterior pituitary; ; body of stomach; ; gastric mucosa; ; right lung; ; right coronary artery; ; body of pancreas;
	Top expressed in
	medial dorsal nucleus; ; medial geniculate nucleus; ; ascending aorta; ; superior frontal gyrus; ; dorsal tegmental nucleus; ; seminiferous tubule; ; nucleus accumbens; ; subiculum; ; lateral geniculate nucleus; ; aortic valve;
	More reference expression data
	n/a
Gene ontology
Molecular function	hydrolase activity, acting on glycosyl bonds; catalytic activity; beta-glucosidase activity; hydrolase activity; hydrolase activity, hydrolyzing O-glycosyl compounds; glucosylceramidase activity; glucosyltransferase activity; steryl-beta-glucosidase activity; transferase activity; glycosyltransferase activity;
Cellular component	Golgi apparatus; endoplasmic reticulum membrane; membrane; Golgi membrane; plasma membrane; smooth endoplasmic reticulum; endoplasmic reticulum; integral component of membrane; cytosol; extrinsic component of membrane; extrinsic component of endoplasmic reticulum membrane; extrinsic component of Golgi membrane;
Biological process	glycosphingolipid metabolic process; lipid metabolism; bile acid metabolic process; glycoside catabolic process; glucosylceramide catabolic process; central nervous system neuron development; metabolism; sphingolipid metabolic process; central nervous system development; cholesterol metabolic process; lipid glycosylation; regulation of actin filament polymerization; regulation of microtubule polymerization; regulation of membrane lipid distribution; steroid metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	57704
	230101
	ENSG00000070610
	ENSMUSG00000028467
	Q9HCG7
	Q69ZF3
	NM_020944; NM_001330660
	NM_172692
	NP_001317589; NP_065995
	NP_766280
	Wikidata
View/Edit Human	View/Edit Mouse

GBA2 is the gene that encodes the enzyme non-lysosomal glucosylceramidase in humans.^[5]^[6] It has glucosylceramidase (EC 3.2.1.45) activity.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000070610 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028467 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Matern H, Boermans H, Lottspeich F, Matern S (Oct 2001). "Molecular cloning and expression of human bile acid beta-glucosidase". J Biol Chem. 276 (41): 37929–33. doi:10.1074/jbc.M104290200. PMID 11489889.
^ "Entrez Gene: GBA2 glucosidase, beta (bile acid) 2".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000070610 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028467 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11489889-5] Matern H, Boermans H, Lottspeich F, Matern S (Oct 2001). "Molecular cloning and expression of human bile acid beta-glucosidase". J Biol Chem. 276 (41): 37929–33. doi:10.1074/jbc.M104290200. PMID 11489889.

[entrez-6] "Entrez Gene: GBA2 glucosidase, beta (bile acid) 2".

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