Gene table of GBA : glucosylceramidase beta

Gene-disease associations table

Disease IDDisease nameSource of annotation with GBAOMIM linkNumber of associated genesgenes
230900GAUCHER DISEASE, TYPE IIClinVar, OMIM, HUMSAVAR link to OMIM 1GBA
608013GAUCHER DISEASE, PERINATAL LETHALOMIM link to OMIM 1GBA
127750DEMENTIA, LEWY BODYOMIM link to OMIM 3SNCB, GBA, SNCA
230800GAUCHER DISEASE, TYPE IClinVar, OMIM, HUMSAVAR link to OMIM 1GBA
PS168600PARKINSON DISEASEClinVar, OMIM link to OMIM 30ATP13A2, FGF20, VPS13C, DNAJC13, ATXN2, PINK1, CHCHD2, ADH1C, UCHL1, GIGYF2, SYNJ1, PODXL, HTRA2, LRRK2, TBP, PARK2, ATXN8OS, SNCAIP, GBA, SNCA, NR4A2, PLA2G6, GLUD2, PARK7, ATXN3, MAPT, DNAJC6, EIF4G1, FBXO7, VPS35
231005GAUCHER DISEASE, TYPE IIICClinVar, OMIM link to OMIM 1GBA
231000GAUCHER DISEASE, TYPE IIIClinVar, OMIM, HUMSAVAR link to OMIM 1GBA

Download the gene annotation in CSV format

Annotation of the gene GBA

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Metabolic pathwayshsa011002.49
Other glycan degradationhsa005118.45
Lysosomehsa041425.78
Sphingolipid metabolismhsa006007.15
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
MetabolismR-HSA-14307282.34
Glycosphingolipid metabolismR-HSA-16606627.62
Sphingolipid metabolismR-HSA-4281576.79
Associated GO terms for Molecular function
GO termGO IDGO IC
hydrolase activityGO:00167871.9
glucosylceramidase activityGO:00043488.64
hydrolase activity, acting on glycosyl bondsGO:00167984.91
catalytic activityGO:00038241.05
bindingGO:00054880.18
protein bindingGO:00055150.46
hydrolase activity, hydrolyzing O-glycosyl compoundsGO:00045535.14
receptor bindingGO:00051022.43