GBA (glucosylceramidase beta)

2009-05-01 Affiliation

Identity

HGNC

GBA

LOCATION

1q22

LOCUSID

2629

ALIAS

GBA1,GCB,GLUC

FUSION GENES

Show Gene Fusions

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: 2629
MIM: 606463
HGNC: 4177
Ensembl: ENSG00000177628

Variants:

dbSNP: 2629
ClinVar: 2629
TCGA: ENSG00000177628
COSMIC: GBA

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000177628	ENST00000327247	P04062
ENSG00000177628	ENST00000327247	A0A068F658
ENSG00000177628	ENST00000368373	P04062
ENSG00000177628	ENST00000368373	A0A068F658
ENSG00000177628	ENST00000427500	P04062
ENSG00000177628	ENST00000428024	P04062

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Other glycan degradation	KEGG	ko00511
Sphingolipid metabolism	KEGG	ko00600
Other glycan degradation	KEGG	hsa00511
Sphingolipid metabolism	KEGG	hsa00600
Lysosome	KEGG	ko04142
Lysosome	KEGG	hsa04142
Metabolic pathways	KEGG	hsa01100
Metabolism of proteins	REACTOME	R-HSA-392499
Protein folding	REACTOME	R-HSA-391251
Chaperonin-mediated protein folding	REACTOME	R-HSA-390466
Association of TriC/CCT with target proteins during biosynthesis	REACTOME	R-HSA-390471
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Sphingolipid metabolism	REACTOME	R-HSA-428157
Glycosphingolipid metabolism	REACTOME	R-HSA-1660662

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA166115366	velaglucerase alfa	Chemical	LabelAnnotation	associated

References

Pubmed ID	Year	Title	Citations
19846850	2009	Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.	510
19846850	2009	Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.	510
21700325	2011	Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies.	393
18338393	2008	Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).	172
19286695	2009	Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.	166
19286695	2009	Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.	166
15525722	2004	Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.	162
15525722	2004	Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.	162
23034917	2012	Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains.	158
24905578	2014	iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis.	147

Citation

Dessen P

GBA (glucosylceramidase beta)

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/gene/50901/gba