help  | about  | cite  | software

Gene : GBA2 Homo sapiens

Name  ? glucosylceramidase beta 2 Cytological Location  9p13.3
Brief Description  glucosylceramidase beta 2
Description  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]
  • synonyms:
  • OTTHUMG00000021024,
  • DKFZp762K054,
  • uc003zxw.3,
  • AJ309567,
  • HGNC:18986,
  • spastic paraplegia 46 (autosomal recessive),
  • glucosidase, beta (bile acid) 2,
  • SPG46,
  • AD035,
  • SPG46,
  • AD035,
  • NM_020944,
  • bile acid beta-glucosidase,
  • KIAA1605,
  • non-lysosomal glucosylceramidase,
  • GBA2,
  • NLGase
  • identifiers:
  • 57704,
  • ENSG00000070610,
  • GBA2

Genome feature

Region: gene ? Length: 12367  
Location: 9:35736862-35749228 reverse strand Cyto location: 9p13.3

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3753 SN Ps

5 Cross References

17 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results