Protein Description

Gene Symbol GBA2
Entrez ID 57704
Uniprot ID Q9HCG7
Description glucosidase, beta (bile acid) 2
Chromosomal Location chr9: 35,736,866-35,749,228
Ontology GO ID GO Term Definition Evidence

BP

GO:0006680

glucosylceramide catabolic process

The chemical reactions and pathways resulting in the breakdown of glucosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of glucose by a ceramide group.

IEA

BP

GO:0006687

glycosphingolipid metabolic process

The chemical reactions and pathways involving glycosphingolipids, any compound with residues of sphingoid and at least one monosaccharide.

TAS

BP

GO:0008206

bile acid metabolic process

The chemical reactions and pathways involving bile acids, any of a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine.

IDA|TAS

BP

GO:0016139

glycoside catabolic process

The chemical reactions and pathways resulting in the breakdown of glycosides, compounds in which a glycosyl group is substituted into a hydroxyl, thiol or selenol group in another compound.

IDA|NAS

BP

GO:0021954

central nervous system neuron development

The process whose specific outcome is the progression of a neuron whose cell body is located in the central nervous system, from initial commitment of the cell to a neuronal fate, to the fully functional differentiated neuron.

IMP

CC

GO:0000139

Golgi membrane

The lipid bilayer surrounding any of the compartments of the Golgi apparatus.

IEA

CC

GO:0005789

endoplasmic reticulum membrane

The lipid bilayer surrounding the endoplasmic reticulum.

IEA

CC

GO:0005790

smooth endoplasmic reticulum

The smooth endoplasmic reticulum (smooth ER or SER) has no ribosomes attached to it. The smooth ER is the recipient of the proteins synthesized in the rough ER. Those proteins to be exported are passed to the Golgi complex, the resident proteins are returned to the rough ER and the lysosomal proteins after phosphorylation of their mannose residues are passed to the lysosomes. Glycosylation of the glycoproteins also continues. The smooth ER is the site of synthesis of lipids, including the phospholipids. The membranes of the smooth ER also contain enzymes that catalyze a series of reactions to detoxify both lipid-soluble drugs and harmful products of metabolism. Large quantities of certain compounds such as phenobarbital cause an increase in the amount of the smooth ER.

TAS

CC

GO:0005886

plasma membrane

The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

TAS

CC

GO:0016021

integral component of membrane

The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

IDA|NAS

MF

GO:0004348

glucosylceramidase activity

Catalysis of the reaction: D-glucosyl-N-acylsphingosine + H2O = D-glucose + N-acylsphingosine.

TAS

MF

GO:0008422

beta-glucosidase activity

Catalysis of the hydrolysis of terminal, non-reducing beta-D-glucose residues with release of beta-D-glucose.

IDA

Domain ID Description

IPR006775

Glycosyl-hydrolase family 116, catalytic region

IPR008928

Six-hairpin glycosidase-like

IPR014551

Beta-glucosidase GBA2-type

IPR024462

Glycosyl-hydrolase family 116, N-terminal

Pathway ID Pathway Term Pathway Source

hsa00511

Other glycan degradation

KEGG

hsa00600

Sphingolipid metabolism

KEGG

hsa01100

Metabolic pathways

KEGG

No diseases found.

Tissue Cell Type

appendix

glandular cells

cerebral cortex

neuronal cells

colon

glandular cells

duodenum

glandular cells

epididymis

glandular cells

nasopharynx

respiratory epithelial cells

rectum

glandular cells

small intestine

glandular cells

testis

Leydig cells

thyroid gland

glandular cells

No databases found.

Pubmed ID Author Year Title

22617121

Ouandaogo et al.

2012

Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation

22951915

Haozi et al.

2012

Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome

Gene Symbol Entrez ID Uniprot ID Score

APP

351

P05067

0.56

TPR

7175

P12270

0.63

MRPS22

56945

P82650

0.63

SRP68

6730

Q9UHB9

0.72

PPFIA1

8500

Q13136

0.72

BAG5

9529

Q9UL15

0.72

LAMTOR5

10542

O43504

0.72

AFG3L2

10939

Q9Y4W6

0.72

ILVBL

10994

A1L0T0

0.72

MRPL44

65080

Q9H9J2

0.72

TMEM216

51259

Q9P0N5

0.49

MTNR1A

4543

P48039

0.63