GBA2 - glucosylceramidase beta 2 Gene

Homo sapiens

Also known as AD035; SPG46; NLGase

Gene ID: 57704 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-129411	Sinbaglustat		98.60%	Unkown
HY-RS05302	GBA2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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