GBA2 - glucosylceramidase beta 2 Gene

Also Known as AD035; SPG46; NLGase

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57704

About GBA2

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:35,736,866-35,749,228 (from NCBI)

This gene has 8 transcripts (splice variants), 198 orthologues and is associated with 4 phenotypes. Ubiquitous expression in small intestine (RPKM 30.3), duodenum (RPKM 27.9) and 25 other tissues.

Summary

This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]

GBA2 Products (2)

mRNA	Protein	Name
NM_001330660.2	NP_001317589.1	non-lysosomal glucosylceramidase isoform 2
NM_020944.3	NP_065995.1	non-lysosomal glucosylceramidase isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables beta-glucosidase activity	IDA IDA: Inferred from direct assay	11489889	GOA
enables glucosylceramidase activity	IDA IDA: Inferred from direct assay	17080196	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in bile acid metabolic process	IDA IDA: Inferred from direct assay	17105727	GOA
involved in central nervous system neuron development	IMP IMP: Inferred from mutant phenotype	23332916	GOA
involved in glucosylceramide catabolic process	IDA IDA: Inferred from direct assay	17080196	GOA
involved in glucosylceramide catabolic process	IMP IMP: Inferred from mutant phenotype	30308956	GOA
involved in glycoside catabolic process	IDA IDA: Inferred from direct assay	17105727	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in membrane	IDA IDA: Inferred from direct assay	17105727	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GBA2 Protein Structure

Glyco_hydr_116N

DUF608

0
200
400
600
800
927 a.a.

Protein Preferred Names	Protein Names
non-lysosomal glucosylceramidase	beta-glucocerebrosidase 2

Related Diseases

Diseases	Alias
Spastic Paraplegia 46, Autosomal Recessive	SPG46 Hereditary Spastic Paraplegia 46 Autosomal Recessive Spastic Paraplegia Type 46 Autosomal Recessive Spastic Paraplegia 46 Paraplegia, Spastic, Type 46, Autosomal Recessive
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Autosomal Recessive Cerebellar Ataxia Due To Gba2 Deficiency
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Spermatogenic Failure 9	Male Infertility Due To Globozoospermia SPGF9 Male Infertility Due To Round-Headed Spermatozoa Globozoospermia, Complete Globozoospermia, Total Globozoospermia Globozoospermia Syndrome Round-Headed Sperm Syndrome Globozoospermia Complete Globozoospermia Total
Gaucher Disease, Type I	Glucocerebrosidase Deficiency Acid Beta-Glucosidase Deficiency Gba Deficiency GD1 Gd I Gaucher Disease, Noncerebral Juvenile Gaucher Disease Type 1 Gaucher Disease Type I Gaucher'S Disease Type I Gaucher Disease Gd 1 Non-Cerebral Juvenile Gaucher Disease GD Gaucher Disease 1 Adult Non-Neuronopathic Gaucher Disease Noncerebral Juvenile Gaucher Disease Type 1 Gaucher Disease Gaucher Disease, Type 1
Parkinson Disease 4, Autosomal Dominant	Autosomal Dominant Parkinson Disease 4 PARK4 Parkinson Disease 4, Autosomal Dominant Lewy Body Parkinson Disease 4 Parkinson'S Disease 4 Autosomal Dominant Lewy Body Parkinson Disease 4 Autosomal Dominant Parkinson'S Disease 4 Parkinson Disease 4 Autosomal Dominant Lewy Body Parkinson Disease Autosomal Dominant 4 Parkinson Disease Familial Type 4 Parkinson Disease, Type 4
Spastic Paraplegia 77, Autosomal Recessive	SPG77 Hereditary Spastic Paraplegia 77 Autosomal Recessive Spastic Paraplegia 77 Autosomal Recessive Spastic Paraplegia Type 77
Spinocerebellar Ataxia, Autosomal Recessive 21	SCAR21 Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome Spinocerebellar Ataxia, Autosomal Recessive 21, With Hepatopathy Cholestasis, Low Ggt, Acute Liver Failure, And Neurodegeneration Syndrome Calfan Autosomal Recessive Spinocerebellar Ataxia 21 Autosomal Recessive Spinocerebellar Ataxia 21 With Hepatopathy Autosomal Recessive Spinocerebellar Ataxia Type 21 Spinocerebellar Ataxia, Autosomal Recessive, 21 Calfan Syndrome
Sandhoff Disease	Total Hexosaminidase Deficiency Hexosaminidases A And B Deficiency Sandhoff Disease, Infantile, Juvenile, And Adult Forms Beta-Hexosaminidase-Beta-Subunit Deficiency Gm2 Gangliosidosis, Type 2 Hexosaminidase A And B Deficiency Disease Sandhoff-Jatzkewitz-Pilz Disease Gm2 Gangliosidosis, Type Ii Sandhoff Disease, Infantile Form Sandhoff Disease, Adult Form Sandhoff Disease, Juvenile Form Gm2-Gangliosidosis, Type Ii Sandhoff Jatzkewitz Disease Type Ii Gm2 Gangliosidosis Gm2 Gangliosidosis, 0 Variant Gm2 Gangliosidosis 0 Variant Hexosaminidases A And B Deficiency, Infantile Form Infantile Gm2 Gangliosidosis 0 Variant Adult Gm2 Gangliosidosis 0 Variant Hexosaminidases A And B Deficiency, Adult Form Hexosaminidases A And B Deficiency, Juvenile Form Juvenile Gm2 Gangliosidosis 0 Variant Gm2-Gangliosidosis 2 GM2G2 Hexosaminidase A And B Deficiency Sd
Spastic Paraplegia 26, Autosomal Recessive	SPG26 Hereditary Spastic Paraplegia 26 Autosomal Recessive Spastic Paraplegia Type 26 Gm2 Synthase Deficiency Spastic Paraplegia 26 Autosomal Recessive Spastic Paraplegia 26 Paraplegia, Spastic, Autosomal Recessive, Type 26
Spastic Paraplegia 54, Autosomal Recessive	SPG54 Hereditary Spastic Paraplegia 54 Autosomal Recessive Spastic Paraplegia Type 54 Autosomal Recessive Spastic Paraplegia 54 Paraplegia, Spastic, Type 54, Autosomal Recessive
Sphingolipidosis	Sphingolipidoses
Spastic Paraplegia 43, Autosomal Recessive	SPG43 Hereditary Spastic Paraplegia 43 Autosomal Recessive Spastic Paraplegia Type 43 Autosomal Recessive Spastic Paraplegia 43 Paraplegia, Spastic, Type 43, Autosomal Recessive
Progressive Myoclonus Epilepsy 4	Action Myoclonus-Renal Failure Syndrome Amrf Epm4 Myoclonus-Nephropathy Syndrome
Spastic Paraplegia 48, Autosomal Recessive	SPG48 Hereditary Spastic Paraplegia 48 Autosomal Recessive Spastic Paraplegia Type 48 Autosomal Recessive Spastic Paraplegia 48 Paraplegia, Spastic, Type 48, Autosomal Recessive
Gm2 Gangliosidosis	Gangliosidosis Gm2 Gangliosidoses, Gm2
Gaucher'S Disease	Gaucher Disease Kerasin Thesaurismosis Glucocerebrosidase Deficiency Glucosylceramidase Deficiency Cerebroside Lipidosis Syndrome Acid Beta-Glucosidase Deficiency Glucosylceramide Beta-Glucosidase Deficiency Acute Cerebral Gaucher Disease Gaucher Splenomegaly Glucocerebrosidosis Glucosyl Cerebroside Lipidosis Kerasin Lipoidosis Lipoid Histiocytosis Glocucerebrosidase Deficiency Sphingolipidosis 1 Gaucher Syndrome Gauchers Disease Gd Glucosylceramide Lipidosis Kerasin Histiocytosis Gaucher Disease, Type 1 Gaucher Disease, Type 2
C Syndrome	Opitz Trigonocephaly Syndrome Trigonocephaly Trigonocephaly Syndrome Trigonocephaly C Syndrome Opitz C Trigonocephaly Opitz Trigonocephaly C Syndrome Otcs CSYN
Spinocerebellar Ataxia, Autosomal Recessive 24	SCAR24 Autosomal Recessive Spinocerebellar Ataxia 24 Spinocerebellar Ataxia, Autosomal Recessive, 24 Ataxia, Spinocerebellar, Autosomal Recessive, Type 24
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Guam Disease Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Of Guam Als-Pdc Lytico-Bodig Disease Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1, Susceptibility To Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex, Susceptibility To Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Of Guam Syndrome Parkinsonism-Dementia-Als Complex Pdals Amyotrophic Lateral Sclerosis, Parkinsonism/Dementia Complex Of Guam Parkinson-Dementia Complex Of Guam G-Pdc Guam Parkinsonism-Dementia Complex ALS-PDC1 Als/Pdc Of Guam Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic/Parkinsonism/Dementia Complex 1 Amyotrophic Lateral Sclerosis, Guam Form Parkinsonian Disorders
Spasticity
Gm1-Gangliosidosis, Type Iii	Gm1 Gangliosidosis Type 3 GM1G3 Gangliosidosis, Generalized Gm1, Type 3 Adult-Onset Gm1 Gangliosidosis Gangliosidosis Gm1 Type 3 Gangliosidosis Generalized Gm1 Chronic Type Gangliosidosis, Generalized Gm1, Adult Type Gangliosidosis, Generalized Gm1, Chronic Type Gangliosidosis, Generalized Gm1, Type Iii Adult Gm1 Gangliosidosis Beta-Galactosidase Deficiency Type 3 Gm1-Gangliosidosis 3 Gangliosidosis Generalized Gm1 Type 3 Gm1-Gangliosidosis Generalized Adult Type Gangliosidosis, Gm1 Type Iii
Spastic Paraplegia 14, Autosomal Recessive	SPG14 Hereditary Spastic Paraplegia 14 Autosomal Recessive Spastic Paraplegia Type 14 Autosomal Recessive Spastic Paraplegia 14 Spastic Paraplegia 14
Gangliosidosis	Gangliosidoses
Gm1 Gangliosidosis	Beta-Galactosidase Deficiency Gangliosidosis Gm1 Deficiency Of Beta-Galactosidase Beta Galactosidase 1 Deficiency Beta-Galactosidosis Glb 1 Deficiency Beta-Galactosidase-1 Deficiency Beta-Galactosidase-1 Deficiency Glb1 Deficiency Landing Disease Gangliosidosis, Gm1
Krabbe Disease	Globoid Cell Leukodystrophy Galactosylceramide Beta-Galactosidase Deficiency Galc Deficiency Galactocerebrosidase Deficiency GLD Globoid Cell Leukoencephalopathy Diffuse Globoid Body Sclerosis Gcl Leukodystrophy, Globoid Cell Krabbe'S Leukodystrophy Krabbe Leukodystrophy KRB Beta Galactocerebrosidase Deficiency Krabbe'S Disease Galactosylceramidase Deficiency Disease Galactosylceramide Lipidosis Galactosylcerebrosidase Deficiency Galactosylsphingosine Lipidosis Psychosine Lipidosis Galactosylceramidase Deficiency Infantile Globoid Cell Leukodystrophy Krabbe Brain Sclerosis
Spastic Ataxia	Spax Ataxia, Spastic
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Tay-Sachs Disease	Hexosaminidase A Deficiency TSD Hexa Deficiency Gm2 Gangliosidosis, Type 1 Hexosaminidase Alpha-Subunit Deficiency Gm2-Gangliosidosis, Several Forms Gm2-Gangliosidosis, B, B1, Ab Variant B Variant Gm2 Gangliosidosis Sphingolipidosis, Tay-Sachs Gm2-Gangliosidosis, Type I B Variant Gm2-Gangliosidosis Hex A Pseudodeficiency Hexa Disorders Beta-Hexosaminidase A Deficiency Gm2 Gangliosidosis, Type I Gangliosidosis Gm2 , Type 1 Gm2 Gangliosidosis, B, B1 Variant Gm2-Gangliosidosis 1 GM2G1 Gm2-Gangliosidosis B Variant Tay-Sachs Disease Pseudo-Ab Variant Tay-Sachs Disease Variant B1 Gangliosidoses, Gm2
Niemann-Pick Disease	Sphingomyelin/Cholesterol Lipidosis Niemann-Pick Diseases Lipoid Histiocytosis Sphingomyelin Lipidosis Sphingomyelinase Deficiency Disease Lipid Histiocytosis Neuronal Cholesterol Lipidosis Neuronal Lipidosis Npd Sphingomyelinase Deficiency Niemann-Pick Disease, Type A
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-129411	Sinbaglustat		99.83%	Unkown
HY-178202	5-C-phenethyl-DNJ	Inhibitor	/	Unkown
HY-RS05302	GBA2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18361	Gba2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24840	Gba2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	GBA2	VGNC	VGNC:62482
Rattus norvegicus	GBA2	RGD	RGD:1305598
Mus musculus	GBA2	MGD	MGI:2654325
Macaca mulatta	GBA2	VGNC	VGNC:72741
Canis familiaris	GBA2	VGNC	VGNC:41131
Bos taurus	GBA2	VGNC	VGNC:29275
Others	GBA2	NCBI