• Gene id: 57704

Gene Summary

• Gene Symbol: GBA2   Gene   UCSC   Ensembl
• Aliases: AD035, NLGase, SPG46
• Gene name: glucosylceramidase beta 2
• Alternate names: non-lysosomal glucosylceramidase, beta-glucocerebrosidase 2, bile acid beta-glucosidase GBA2, bile acid glucosyl transferase GBA2, cholesterol glucosyltransferase GBA2, cholesteryl-beta-glucosidase GBA2, glucosidase, beta (bile acid) 2, glucosylceramidase 2,
• Gene location: 9p13.3 (35749227: 35736861)     Exons: 18     NC_000009.12
• Gene summary(Entrez): This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in
• OMIM: 609471

Protein Summary

• Protein general information: Q9HCG7  
  • Name: Non lysosomal glucosylceramidase (NLGase) (EC 3.2.1.45) (Beta glucocerebrosidase 2) (Beta glucosidase 2) (Bile acid beta glucosidase GBA2) (Bile acid glucosyl transferase GBA2) (Cholesterol glucosyltransferase GBA2) (EC 2.4.1. ) (Cholesteryl beta glucosid
  • Length: 927  
  • Mass: 104649
  • Tissue specificity: Widely expressed (PubMed
• Sequence:

  MGTQDPGNMGTGVPASEQISCAKEDPQVYCPEETGGTKDVQVTDCKSPEDSRPPKETDCCNPEDSGQLMVSYEGK
  AMGYQVPPFGWRICLAHEFTEKRKPFQANNVSLSNMIKHIGMGLRYLQWWYRKTHVEKKTPFIDMINSVPLRQIY
  GCPLGGIGGGTITRGWRGQFCRWQLNPGMYQHRTVIADQFTVCLRREGQTVYQQVLSLERPSVLRSWNWGLCGYF
  AFYHALYPRAWTVYQLPGQNVTLTCRQITPILPHDYQDSSLPVGVFVWDVENEGDEALDVSIMFSMRNGLGGGDD
  APGGLWNEPFCLERSGETVRGLLLHHPTLPNPYTMAVAARVTAATTVTHITAFDPDSTGQQVWQDLLQDGQLDSP
  TGQSTPTQKGVGIAGAVCVSSKLRPRGQCRLEFSLAWDMPRIMFGAKGQVHYRRYTRFFGQDGDAAPALSHYALC
  RYAEWEERISAWQSPVLDDRSLPAWYKSALFNELYFLADGGTVWLEVLEDSLPEELGRNMCHLRPTLRDYGRFGY
  LEGQEYRMYNTYDVHFYASFALIMLWPKLELSLQYDMALATLREDLTRRRYLMSGVMAPVKRRNVIPHDIGDPDD
  EPWLRVNAYLIHDTADWKDLNLKFVLQVYRDYYLTGDQNFLKDMWPVCLAVMESEMKFDKDHDGLIENGGYADQT
  YDGWVTTGPSAYCGGLWLAAVAVMVQMAALCGAQDIQDKFSSILSRGQEAYERLLWNGRYYNYDSSSRPQSRSVM
  SDQCAGQWFLKACGLGEGDTEVFPTQHVVRALQTIFELNVQAFAGGAMGAVNGMQPHGVPDKSSVQSDEVWVGVV
  YGLAATMIQEGLTWEGFQTAEGCYRTVWERLGLAFQTPEAYCQQRVFRSLAYMRPLSIWAMQLALQQQQHKKASW
  PKVKQGTGLRTGPMFGPKEAMANLSPE

• Structural information:
  • Interpro: IPR008928  IPR012341  IPR014551  IPR006775  IPR024462  
  • STRING: ENSP00000367343
• Other Databases: GeneCards:  GBA2  Malacards:  GBA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007417	central nervous system development	IBA	biological process
GO:0008422	beta-glucosidase activity	IBA	molecular function
GO:0006680	glucosylceramide catabolic process	IDA	biological process
GO:0004348	glucosylceramidase activity	IDA	molecular function
GO:0030259	lipid glycosylation	ISS	biological process
GO:0019898	extrinsic component of membrane	ISS	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0006680	glucosylceramide catabolic process	IMP	biological process
GO:0046527	glucosyltransferase activity	ISS	molecular function
GO:0008203	cholesterol metabolic process	ISS	biological process
GO:0090498	extrinsic component of Golgi membrane	ISS	cellular component
GO:0042406	extrinsic component of endoplasmic reticulum membrane	ISS	cellular component
GO:0097035	regulation of membrane lipid distribution	ISS	biological process
GO:0031113	regulation of microtubule polymerization	ISS	biological process
GO:0030833	regulation of actin filament polymerization	ISS	biological process
GO:0050295	steryl-beta-glucosidase activity	ISS	molecular function
GO:0021954	central nervous system neuron development	IMP	biological process
GO:0006680	glucosylceramide catabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004348	glucosylceramidase activity	IEA	molecular function
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0008202	steroid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0050295	steryl-beta-glucosidase activity	IEA	molecular function
GO:0004348	glucosylceramidase activity	IEA	molecular function
GO:0004348	glucosylceramidase activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0046527	glucosyltransferase activity	IEA	molecular function
GO:0030259	lipid glycosylation	IEA	biological process
GO:0019898	extrinsic component of membrane	IEA	cellular component
GO:0006680	glucosylceramide catabolic process	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0097035	regulation of membrane lipid distribution	IEA	biological process
GO:0090498	extrinsic component of Golgi membrane	IEA	cellular component
GO:0050295	steryl-beta-glucosidase activity	IEA	molecular function
GO:0042406	extrinsic component of endoplasmic reticulum membrane	IEA	cellular component
GO:0031113	regulation of microtubule polymerization	IEA	biological process
GO:0030833	regulation of actin filament polymerization	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0004348	glucosylceramidase activity	IEA	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0016139	glycoside catabolic process	IDA	biological process
GO:0008422	beta-glucosidase activity	IDA	molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:0008206	bile acid metabolic process	IDA	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0008206	bile acid metabolic process	TAS	biological process
GO:0016139	glycoside catabolic process	NAS	biological process
GO:0005790	smooth endoplasmic reticulum	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00600	Sphingolipid metabolism
hsa00511	Other glycan degradation

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881