GBA2

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

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)[1] Band 9p13.3 Start 35,736,866 bp[1] End 35,749,228 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 A5 Start 43,566,928 bp[2] End 43,578,873 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum transverse colon mucosa of transverse colon muscle layer of sigmoid colon right lobe of thyroid gland rectum apex of heart left lobe of thyroid gland anterior pituitary body of stomach Top expressed in medial dorsal nucleus medial geniculate nucleus ascending aorta superior frontal gyrus granulocyte dorsal tegmental nucleus seminiferous tubule nucleus accumbens subiculum lateral geniculate nucleus More reference expression data BioGPS 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 Species Human Mouse Entrez 57704 230101 Ensembl ENSG00000070610 ENSMUSG00000028467 UniProt Q9HCG7 Q69ZF3 RefSeq (mRNA) NM_020944 NM_001330660 NM_172692 RefSeq (protein) NP_001317589 NP_065995 NP_766280 Location (UCSC) Chr 9: 35.74 – 35.75 Mb Chr 4: 43.57 – 43.58 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[6]

See also

• Closely related enzymes
  • GBA: acid β-glucosidase (lysosomal), EC 3.2.1.45
  • GBA3: acid β-glucosidase (cytosolic), EC 3.2.1.21