AutismKB 2.0

Annotation Details for GBA3


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Basic Information Top
Gene Symbol:GBA3 ( CBGL1,GLUC,KLrP,MGC104276,MGC126878 )
Gene Full Name: glucosidase, beta, acid 3 (cytosolic)
Band: 4p15.2
Quick LinksEntrez ID:57733; OMIM: 606619; Uniprot ID:GBA3_HUMAN; ENSEMBL ID: ENSG00000249948; HGNC ID: 19069
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829IDA-cytosol17595169
GO:0005829TAS-cytosol-
GO:1902494IDA-catalytic complex26193330
GO ID Evidence Qualifier GO_term References
GO:0004348TAS-glucosylceramidase activity-
GO:0004565IDA-beta-galactosidase activity11389701
GO:0005515IPI-protein binding26193330
GO:0008422IDA-beta-glucosidase activity17595169
GO:0017042IDA-glycosylceramidase activity17595169
GO:0102483IEA-scopolin beta-glucosidase activity-
GO ID Evidence Qualifier GO_term References
GO:0006687TAS-glycosphingolipid metabolic process-
GO:0016139IDA-glycoside catabolic process11389701
GO:0046477IMP-glycosylceramide catabolic process17595169
GO:0050821IDA-protein stabilization26193330
GO:0051692IDA-cellular oligosaccharide catabolic process26193330
GO:1903017IDA-positive regulation of exo-alpha-sialidase activity26193330
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018