glucosylceramidase beta 2

Summary
Gene Symbol
  • GBA2
Aliases
  • AD035
  • DKFZp762K054
  • KIAA1605
  • bile acid beta-glucosidase
  • glucocerebrosidase 2
  • non-lysosomal glucosylceramidase
Organism
Homo sapiens (human)
External Links
NCBI Gene
57704
HGNC
18986
KEGG Gene ID
hsa:57704
PubChem
57704
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cholesterol metabolism
  • Direct protein sequencing
  • Disease variant
  • Endoplasmic reticulum
  • Glycosidase
  • Glycosyltransferase
  • Golgi apparatus
  • Hereditary spastic paraplegia
  • Membrane
  • Reference proteome
  • Sphingolipid metabolism
Proteins
Displaying 1 entry
UniProt Protein Name
Q9HCG7
  • Beta-glucocerebrosidase 2
  • Bile acid beta-glucosidase GBA2
  • Bile acid glucosyl transferase GBA2
  • Cholesterol glucosyltransferase GBA2
  • Cholesteryl-beta-glucosidase GBA2
  • Glucosylceramidase 2
  • Non-lysosomal cholesterol glycosyltransferase
  • Non-lysosomal galactosylceramidase
  • Non-lysosomal glycosylceramidase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000070610

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K17108
Name
non-lysosomal glucosylceramidase [EC:3.2.1.45]
References
Disease
Disease Ontology
Displaying entries 31 - 40 of 99 in total
DO ID Disease Name Source
DOID:0110779 hereditary spastic paraplegia 28
DOID:0110780 hereditary spastic paraplegia 29
DOID:0110781 hereditary spastic paraplegia 30
DOID:0110782 hereditary spastic paraplegia 31
DOID:0110783 hereditary spastic paraplegia 32
DOID:0110785 hereditary spastic paraplegia 34
DOID:0110786 hereditary spastic paraplegia 35
DOID:0110787 hereditary spastic paraplegia 36
DOID:0110788 hereditary spastic paraplegia 37
DOID:0110789 hereditary spastic paraplegia 38
The Human Phenotype Ontology
Displaying entries 1 - 10 of 66 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000020 Urinary incontinence
HP:0000365 Hearing impairment
HP:0000407 Sensorineural hearing impairment
HP:0000518 Cataract
HP:0000570 Abnormal saccadic eye movements
HP:0000639 Nystagmus
HP:0000726 Dementia
HP:0000789 Infertility
HP:0001249 Intellectual disability
Displaying all 3 entries
Disease ID Disease Name
ORPHA:352641
  • autosomal recessive cerebellar ataxia with late-onset spasticity
ORPHA:320391
  • hereditary spastic paraplegia 46
OMIM:614409
  • hereditary spastic paraplegia 46
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP006630
Gene Name
glucosidase, beta (bile acid) 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024