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GBA2

GENERAL INFORMATION

Gene name

 GBA2

Gene description

 Glucosidase, beta (bile acid) 2

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA024026
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 GBA2 (HGNC Symbol)

Synonyms

 AD035, DKFZp762K054, KIAA1605, SPG46

Description

 Glucosidase, beta (bile acid) 2 (HGNC Symbol)

Entrez gene 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]

Chromosome

 9

Cytoband

 p13.3

Chromosome location (bp)

 35736866 - 35749228

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000070610 (version 83.38)

Entrez gene

 57704

UniProt

 Q9HCG7 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9HCG7

Antibodypedia

 GBA2 antibodies

PROTEIN BROWSER
GBA2-001
GBA2-003
GBA2-004

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GBA2-001
ENSP00000367343
ENST00000378103
Q9HCG7 [Direct mapping]
Non-lysosomal glucosylceramidase
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Enzymes
   ENZYME proteins
   Hydrolases
   MEMSAT3 predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0003824 [catalytic activity]
GO:0004348 [glucosylceramidase activity]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005886 [plasma membrane]
GO:0006665 [sphingolipid metabolic process]
GO:0006680 [glucosylceramide catabolic process]
GO:0006687 [glycosphingolipid metabolic process]
GO:0008206 [bile acid metabolic process]
GO:0008422 [beta-glucosidase activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016139 [glycoside catabolic process]
GO:0021954 [central nervous system neuron development]
GO:0044281 [small molecule metabolic process]
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 927 aa
104.6 kDa 		No 0
GBA2-003
ENSP00000367334
ENST00000378094
Q9HCG7 [Direct mapping]
Non-lysosomal glucosylceramidase
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   MEMSAT3 predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0003824 [catalytic activity]
GO:0004348 [glucosylceramidase activity]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005790 [smooth endoplasmic reticulum]
GO:0005886 [plasma membrane]
GO:0006665 [sphingolipid metabolic process]
GO:0006680 [glucosylceramide catabolic process]
GO:0006687 [glycosphingolipid metabolic process]
GO:0008206 [bile acid metabolic process]
GO:0008422 [beta-glucosidase activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016139 [glycoside catabolic process]
GO:0021954 [central nervous system neuron development]
GO:0044281 [small molecule metabolic process]
Show all
 877 aa
98.7 kDa 		No 0
GBA2-004
ENSP00000367328
ENST00000378088
A0A0A0MRV1 [Direct mapping]
Non-lysosomal glucosylceramidase
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   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004348 [glucosylceramidase activity]
GO:0006665 [sphingolipid metabolic process]
GO:0016021 [integral component of membrane]
Show all
 172 aa
18.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.