GBA2 (glucosylceramidase beta 2)

2013-04-01  

Identity

HGNC
GBA2
LOCATION
9p13.3
LOCUSID
57704
ALIAS
AD035,NLGase,SPG46
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57704
MIM: 609471
HGNC: 18986
Ensembl: ENSG00000070610

Variants:

dbSNP: 57704
ClinVar: 57704
TCGA: ENSG00000070610
COSMIC: GBA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000070610ENST00000378088A0A0A0MRV1
ENSG00000070610ENST00000378094Q9HCG7
ENSG00000070610ENST00000378103Q9HCG7

Expression (GTEx)

0
50
100
150
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

PathwaySourceExternal ID
Other glycan degradationKEGGko00511
Sphingolipid metabolismKEGGko00600
Other glycan degradationKEGGhsa00511
Sphingolipid metabolismKEGGhsa00600
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
171057272007Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2.58
233329162013Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.54
233329172013Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.37
199332152010Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase.33
238807672013β-Glucosidase 2 (GBA2) activity and imino sugar pharmacology.28
232507572013The non-lysosomal β-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi.24
243374092014Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.16
188293752009Glucosidase-beta variations and Lewy body disorders.15
230738302013The nonlysosomal β-glucosidase GBA2 promotes endoplasmic reticulum stress and impairs tumorigenicity of human melanoma cells.15
242520622014A novel GBA2 gene missense mutation in spastic ataxia.15

Citation

Dessen P

GBA2 (glucosylceramidase beta 2)

Atlas Genet Cytogenet Oncol Haematol. 2013-04-01

Online version: http://atlasgeneticsoncology.org/gene/53238/gba2