| Type | Description |
|---|---|
| Definition | glucosidase beta 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-05-16 10:09:00 | In heterozygous GBA1 mutant mice, there was also significantly reduced GBA2 GCase enzyme activity specifically within the hippocampus. Such reductions in GBA2 GCase enzyme could contribute to the pathological and behavioural effects seen. | 31299418 |
| 2019-06-01 11:06:00 | results shed light on the molecular mechanism underlying the pathogenesis of GBA2-related hereditary spastic paraplegia (HSP), autosomal-recessive cerebellar ataxia (ARCA) and reveal species-specific differences in GBA2 function in vivo | 30662006 |
| 2017-04-29 10:59:00 | sphingosine, the cytotoxic metabolite accumulating in Gaucher cells through the action of GBA2, directly binds to GBA2 and inhibits its activity. | 28258214 |
| 2016-05-07 11:22:00 | GBA2 is particularly abundant in Purkinje cells (PCs), one of the most affected neuronal populations in NPC disease. | 26275242 |
| 2016-01-02 10:28:00 | glucosylceramide accumulation in GBA2 knockout-mice alters cytoskeletal dynamics due to a more ordered lipid organization in the plasma membrane. Similar cytoskeletal defects were observed in male germ and Sertoli cells from GBA2 knockout-mice. | 25803043 |
| Type | IDs |
|---|---|
| Synonymous | F630034E04 |
| Gene |
UniProtKB-ID:
GBA2_MOUSE
UniprotKB:
Q69ZF3
UniParc:
UPI0000193061
EMBL:
AK173213,
BC056935,
AK089192,
AL732626
Ensembl:
ENSMUSG00000028467
KO:
mmu:230101
|
| Nucleutide sequences |
EMBL-CDS:
BAC40785.1,
BAD32491.1,
AAH56935.1
Ensembl_TRS:
ENSMUST00000030189
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000030189
RefSeq:
NP_766280.2,
XP_006537895.1
|
| Others |
UniRef100:
UniRef100_Q69ZF3
UniRef90:
UniRef90_Q69ZF3
UniRef50:
UniRef50_Q9HCG7-2
UniGene:
Mm.229444
CCDS:
CCDS18103.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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