Version 5.4
| Mus musculus Protein: Gba2 | |||||||||
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| Summary | |||||||||
| InnateDB Protein | IDBP-142009.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | Gba2 | ||||||||
| Protein Name | glucosidase beta 2 | ||||||||
| Synonyms | |||||||||
| Species | Mus musculus | ||||||||
| Ensembl Protein | ENSMUSP00000030189 | ||||||||
| InnateDB Gene | IDBG-142007 (Gba2) | ||||||||
| Protein Structure |
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| 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 (By similarity). Required for proper formation of motor neuron axons (By similarity). {ECO:0000250}. | ||||||||
| Subcellular Localization | Endoplasmic reticulum membrane {ECO:0000269PubMed:23250757}; Peripheral membrane protein {ECO:0000269PubMed:23250757}; Cytoplasmic side {ECO:0000269PubMed:23250757}. Golgi apparatus membrane {ECO:0000269PubMed:23250757}; Peripheral membrane protein {ECO:0000269PubMed:23250757}; Cytoplasmic side {ECO:0000269PubMed:23250757}. Note=Not localized to lipid rafts. {ECO:0000250}. | ||||||||
| Disease Associations | |||||||||
| Tissue Specificity | Widely expressed at low level. Highly expressed in testis and brain. {ECO:0000269PubMed:17080196, ECO:0000269PubMed:23250757}. | ||||||||
| Comments | |||||||||
| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||
| PDB ID | MGI:2654325 | ||||||||
| InterPro |
IPR006775
Glucosylceramidase IPR008928 Six-hairpin glycosidase-like IPR014551 Beta-glucosidase, GBA2 type IPR024462 Beta-glucosidase, GBA2 type, N-terminal |
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| PFAM |
PF04685
PF12215 |
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| PRINTS | |||||||||
| PIRSF |
PIRSF028944
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| SMART | |||||||||
| TIGRFAMs | |||||||||
| Post-translational Modifications | |||||||||
| Modification | |||||||||
| Cross-References | |||||||||
| SwissProt | Q69ZF3 | ||||||||
| PhosphoSite | PhosphoSite-Q69ZF3 | ||||||||
| TrEMBL | |||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 230101 | ||||||||
| UniGene | Mm.474542 | ||||||||
| RefSeq | NP_766280 | ||||||||
| MGI ID | |||||||||
| MGI Symbol | Gba2 | ||||||||
| OMIM | |||||||||
| CCDS | CCDS18103 | ||||||||
| HPRD | |||||||||
| IMGT | |||||||||
| EMBL | AK089192 AK173213 AL732626 BC056935 | ||||||||
| GenPept | AAH56935 BAC40785 BAD32491 CAM17042 | ||||||||