Homo sapiens Protein: GBA2 | |||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||
InnateDB Protein | IDBP-63949.7 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | GBA2 | ||||||||||||||||||
Protein Name | glucosidase, beta (bile acid) 2 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000367334 | ||||||||||||||||||
InnateDB Gene | IDBG-63945 (GBA2) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide (GlcCer) to free glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo. Plays a role in central nevous system development. Required for proper formation of motor neuron axons. {ECO:0000269PubMed:17105727, ECO:0000269PubMed:23332916}. | ||||||||||||||||||
Subcellular Localization | Endoplasmic reticulum membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=Not localized to lipid rafts. {ECO:0000269PubMed:17105727}. | ||||||||||||||||||
Disease Associations | Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409]: A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging. {ECO:0000269PubMed:23332916, ECO:0000269PubMed:23332917}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Widely expressed. Highly expressed in brain, heart, skeletal muscle, kidney and placenta and expressed at lower level in liver. {ECO:0000269PubMed:11489889}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
|
||||||||||||||||||
Gene Ontology | |||||||||||||||||||
Molecular Function |
|
||||||||||||||||||
Biological Process |
|
||||||||||||||||||
Cellular Component |
|
||||||||||||||||||
Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR006775
Glucosylceramidase IPR008928 Six-hairpin glycosidase-like IPR014551 Beta-glucosidase, GBA2 type IPR024462 Beta-glucosidase, GBA2 type, N-terminal |
||||||||||||||||||
PFAM |
PF04685
PF12215 |
||||||||||||||||||
PRINTS | |||||||||||||||||||
PIRSF |
PIRSF028944
|
||||||||||||||||||
SMART | |||||||||||||||||||
TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q9HCG7 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q9HCG7 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 57704 | ||||||||||||||||||
UniGene | Hs.443134 | ||||||||||||||||||
RefSeq | |||||||||||||||||||
HUGO | HGNC:18986 | ||||||||||||||||||
OMIM | 609471 | ||||||||||||||||||
CCDS | |||||||||||||||||||
HPRD | 13569 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB046825 AF258662 AJ309567 AK027884 AL133410 AL834306 BC011363 CH471071 | ||||||||||||||||||
GenPept | AAG44660 AAH11363 BAB13431 BAB55430 CAC83792 CAD38976 CAI10981 CAI10982 CAI10983 EAW58348 EAW58349 | ||||||||||||||||||