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 |
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 |
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 |