Property Summary

NCBI Gene PubMed Count 26
Grant Count 9
R01 Count 3
Funding $1,295,084.57
PubMed Score 39.03
PubTator Score 22.60

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Gene RIF (43)

PMID Text
26220345 Spastic paraplegia/cerebellar ataxia patients have a severe deficit in GBA2 activity, because the GBA2 mutants are intrinsically inactive and/or reduced in amount.
24337409 The GBA2 gene shows a low mutation frequency in a general population of complicated hereditary spastic paraparesis
24275721 Whole-exome and targeted sequencing have defined the genetic basis of dizziness including new genes causing ataxia: GBA2, TGM6, ANO10 and SYT14
24252062 We hereby report a novel GBA2 mutation associated with spastic ataxia and suggest that GBA2 mutations may be a relatively frequent cause of autosomal recessive cerebellar ataxias.
24070122 observations make GBA2 a likely candidate to be involved in Gaucher disease etiology.
23880767 redefine GBA2 activity as the beta-glucosidase that is sensitive to inhibition by N-butyldeoxygalactonojirimycin.
23332917 This study suggests GBA2 mutations are a cause of recessive spastic ataxia and responsible for a form of glucosylceramide storage disease in humans.
23332916 GBA2 loss of function led to abnormal motor behavior and axonal shortening/branching of motoneurons.
23250757 GBA2 is localized at the ER and Golgi, which puts GBA2 in a key position for a lysosome-independent route of glucosylceramide-dependent signaling.
23073830 GBA2 is down-regulated in melanoma; inducible expression of GBA2 affects endogenous sphingolipid metabolism by promoting glucosylceramide degradation (decrease by 78%) and ceramide generation.
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AA Sequence

MGTQDPGNMGTGVPASEQISCAKEDPQVYCPEETGGTKDVQVTDCKSPEDSRPPKETDCCNPEDSGQLMV      1 - 70
SYEGKAMGYQVPPFGWRICLAHEFTEKRKPFQANNVSLSNMIKHIGMGLRYLQWWYRKTHVEKKTPFIDM     71 - 140
INSVPLRQIYGCPLGGIGGGTITRGWRGQFCRWQLNPGMYQHRTVIADQFTVCLRREGQTVYQQVLSLER    141 - 210
PSVLRSWNWGLCGYFAFYHALYPRAWTVYQLPGQNVTLTCRQITPILPHDYQDSSLPVGVFVWDVENEGD    211 - 280
EALDVSIMFSMRNGLGGGDDAPGGLWNEPFCLERSGETVRGLLLHHPTLPNPYTMAVAARVTAATTVTHI    281 - 350
TAFDPDSTGQQVWQDLLQDGQLDSPTGQSTPTQKGVGIAGAVCVSSKLRPRGQCRLEFSLAWDMPRIMFG    351 - 420
AKGQVHYRRYTRFFGQDGDAAPALSHYALCRYAEWEERISAWQSPVLDDRSLPAWYKSALFNELYFLADG    421 - 490
GTVWLEVLEDSLPEELGRNMCHLRPTLRDYGRFGYLEGQEYRMYNTYDVHFYASFALIMLWPKLELSLQY    491 - 560
DMALATLREDLTRRRYLMSGVMAPVKRRNVIPHDIGDPDDEPWLRVNAYLIHDTADWKDLNLKFVLQVYR    561 - 630
DYYLTGDQNFLKDMWPVCLAVMESEMKFDKDHDGLIENGGYADQTYDGWVTTGPSAYCGGLWLAAVAVMV    631 - 700
QMAALCGAQDIQDKFSSILSRGQEAYERLLWNGRYYNYDSSSRPQSRSVMSDQCAGQWFLKACGLGEGDT    701 - 770
EVFPTQHVVRALQTIFELNVQAFAGGAMGAVNGMQPHGVPDKSSVQSDEVWVGVVYGLAATMIQEGLTWE    771 - 840
GFQTAEGCYRTVWERLGLAFQTPEAYCQQRVFRSLAYMRPLSIWAMQLALQQQQHKKASWPKVKQGTGLR    841 - 910
TGPMFGPKEAMANLSPE                                                         911 - 927
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Publication (26)

PMID Year Title
26220345 2015 Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).
24337409 2014 Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.
24275721 2014 Genetics of dizziness: cerebellar and vestibular disorders.
24252062 2014 A novel GBA2 gene missense mutation in spastic ataxia.
24070122 2013 Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.
23880767 2013 ?-Glucosidase 2 (GBA2) activity and imino sugar pharmacology.
23332917 2013 Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
23332916 2013 Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
23250757 2013 The non-lysosomal ?-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi.
23073830 2013 The nonlysosomal ?-glucosidase GBA2 promotes endoplasmic reticulum stress and impairs tumorigenicity of human melanoma cells.
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