| Type | Description |
|---|---|
| Definition | glucosylceramidase beta 2 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:36:00 | Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46. | 32590105 |
| 2020-08-22 15:28:00 | Truncated mutants of beta-glucosidase 2 (GBA2) are localized in the mitochondrial matrix and cause mitochondrial fragmentation. | 32492073 |
| 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 |
| 2019-01-19 12:20:00 | We conclude that the c.1780G>C mutation results in NLGase loss of function with abolishment of the enzymatic activity and accumulation of GlcCer accompanied by a compensatory increase in GCase. | 30308956 |
| 2018-09-01 12:03:00 | Demonstrate that GBA2 plays a role in the proinflammatory state characterizing cystic fibrosis cells. Report for the first time that Pseudomonas aeruginosa infection causes a recruitment of plasma membrane-associated glycosphingolipid hydrolases into lipid rafts of CuFi-1-infected cells. | 29333001 |
| Type | IDs |
|---|---|
| Synonymous | AD035, NLGase, SPG46 |
| Gene |
UniProtKB-ID:
GBA2_HUMAN
UniprotKB:
Q9HCG7
UniParc:
UPI000046F8CF,
UPI0000073FD5,
UPI0000F53480
EMBL:
BC011363,
CH471071,
AB046825,
AJ309567,
AF258662,
AK027884,
AL133410,
AL834306
Ensembl:
ENSG00000070610
KO:
hsa:57704
|
| Nucleutide sequences |
EMBL-CDS:
CAD38976.1,
AAG44660.1,
EAW58348.1,
AAH11363.1,
CAC83792.1,
BAB13431.1,
EAW58349.1,
BAB55430.1
Gene_ORFName:
AD035
Ensembl_TRS:
ENST00000378094,
ENST00000378103
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000367334,
ENSP00000367343
RefSeq:
XP_016870431.1,
XP_016870430.1,
XP_016870427.1,
XP_005251583.1,
XP_006716872.1,
XP_016870428.1,
XP_016870433.1,
XP_016870435.1,
XP_016870432.1,
NP_065995.1,
XP_016870429.1,
XP_016870426.1,
XP_016870434.1,
NP_001317589.1
|
| Others |
UniRef100:
UniRef100_Q9HCG7
UniRef90:
UniRef90_Q9HCG7
UniRef50:
UniRef50_Q9HCG7
UniGene:
Hs.443134
CCDS:
CCDS83363.1,
CCDS6589.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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