Gene Ontology annotation through association of InterPro records with GO terms

Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

Annotation inferences using phylogenetic trees

Gene Ontology annotation based on UniPathway vocabulary mapping

Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara

Electronic Gene Ontology annotations created by ARBA machine learning models

Combined Automated Annotation using Multiple IEA Methods

Purification and characterization of a microsomal bile acid beta-glucosidase from human liver.

Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

Molecular cloning and expression of human bile acid beta-glucosidase.

Complete sequencing and characterization of 21,243 full-length human cDNAs.

DNA sequence and analysis of human chromosome 9.

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility.

Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2.

The full-ORF clone resource of the German cDNA Consortium.

Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humans.

The non-lysosomal β-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi.

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.

A novel GBA2 gene missense mutation in spastic ataxia.

Accumulation of glucosylceramide in the absence of the beta-glucosidase GBA2 alters cytoskeletal dynamics.

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases.

Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.

Glucocerebrosidases catalyze a transgalactosylation reaction that yields a newly-identified brain sterol metabolite, galactosylated cholesterol.

Human glucocerebrosidase mediates formation of xylosyl-cholesterol by β-xylosidase and transxylosidase reactions.

GBA2 hydrolyzes GlcCer (plasma membrane)

Glycosphingolipid catabolism

Non-lysosomal glucosylceramidase

Non-lysosomal glucosylceramidase

GBA2 experimental evidence and substrate specificity (manual synthesis)