Gene table of GBA2 : glucosylceramidase beta 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with GBA2OMIM linkNumber of associated genesgenes
PS303350SPASTIC PARAPLEGIAClinVar, OMIM, HUMSAVAR link to OMIM 47KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, CYP2U1, L1CAM, TFG, ARL6IP1, AP4M1, ERLIN2, KIF1A, AMPD2, SPAST, SPG20, AP4S1, HSPD1, RTN2, PLP1, CYP7B1, REEP1, SPG21, TECPR2, BSCL2, PNPLA6, SPG7, VPS37A, NT5C2, NIPA1, DDHD1, CPT1C, ALDH18A1, ZFYVE27, AP4B1, FA2H

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Annotation of the gene GBA2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Metabolic pathwayshsa011002.49
Other glycan degradationhsa005118.45
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
glucosidase activityGO:00159267.1
glucosylceramidase activityGO:00043488.64
hydrolase activityGO:00167871.9
hydrolase activity, acting on glycosyl bondsGO:00167984.91
beta-glucosidase activityGO:00084227.95
catalytic activityGO:00038241.05
hydrolase activity, hydrolyzing O-glycosyl compoundsGO:00045535.14