Identity
HGNC
LOCATION
9p13.3
LOCUSID
ALIAS
AD035,NLGase,SPG46
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57704
MIM: 609471
HGNC: 18986
Ensembl: ENSG00000070610
Variants:
dbSNP: 57704
ClinVar: 57704
TCGA: ENSG00000070610
COSMIC: GBA2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000070610 | ENST00000378088 | A0A0A0MRV1 |
| ENSG00000070610 | ENST00000378094 | Q9HCG7 |
| ENSG00000070610 | ENST00000378103 | Q9HCG7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32492073 | 2020 | Truncated mutants of beta-glucosidase 2 (GBA2) are localized in the mitochondrial matrix and cause mitochondrial fragmentation. | 4 |
| 32590105 | 2020 | Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46. | 2 |
| 32492073 | 2020 | Truncated mutants of beta-glucosidase 2 (GBA2) are localized in the mitochondrial matrix and cause mitochondrial fragmentation. | 4 |
| 32590105 | 2020 | Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46. | 2 |
| 30662006 | 2019 | Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations. | 13 |
| 30662006 | 2019 | Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations. | 13 |
| 30308956 | 2018 | Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia. | 9 |
| 30308956 | 2018 | Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia. | 9 |
| 28052128 | 2017 | GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies. | 11 |
| 28258214 | 2017 | Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease. | 10 |
| 29333001 | 2017 | Evidence for the Involvement of Lipid Rafts and Plasma Membrane Sphingolipid Hydrolases in Pseudomonas aeruginosa Infection of Cystic Fibrosis Bronchial Epithelial Cells. | 13 |
| 28052128 | 2017 | GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies. | 11 |
| 28258214 | 2017 | Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease. | 10 |
| 29333001 | 2017 | Evidence for the Involvement of Lipid Rafts and Plasma Membrane Sphingolipid Hydrolases in Pseudomonas aeruginosa Infection of Cystic Fibrosis Bronchial Epithelial Cells. | 13 |
| 26492578 | 2016 | Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing. | 23 |
Citation
Dessen P
GBA2 (glucosylceramidase beta 2)
Atlas Genet Cytogenet Oncol Haematol. 2013-04-01
Online version: http://atlasgeneticsoncology.org/gene/53238/gba2
