Details for: GBA2
Associated with
Other Information
Genular Protein ID: 2982581176
Symbol: GBA2_HUMAN
Name: Beta-glucocerebrosidase 2
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11489889
Title: Molecular cloning and expression of human bile acid beta -glucosidase.
PubMed ID: 11489889
PubMed ID: 10997877
Title: Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
PubMed ID: 10997877
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 15164053
Title: DNA sequence and analysis of human chromosome 9.
PubMed ID: 15164053
DOI: 10.1038/nature02465
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 9111029
Title: Purification and characterization of a microsomal bile acid beta-glucosidase from human liver.
PubMed ID: 9111029
PubMed ID: 17080196
Title: Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility.
PubMed ID: 17080196
DOI: 10.1172/jci29224
PubMed ID: 17105727
Title: Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2.
PubMed ID: 17105727
PubMed ID: 32144204
Title: Glucocerebrosidases catalyze a transgalactosylation reaction that yields a newly-identified brain sterol metabolite, galactosylated cholesterol.
PubMed ID: 32144204
PubMed ID: 23332916
Title: Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
PubMed ID: 23332916
PubMed ID: 26220345
Title: Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).
PubMed ID: 26220345
PubMed ID: 23332917
Title: Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
PubMed ID: 23332917
PubMed ID: 24252062
Title: A novel GBA2 gene missense mutation in spastic ataxia.
PubMed ID: 24252062
DOI: 10.1111/ahg.12045
PubMed ID: 30308956
Title: Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.
PubMed ID: 30308956
DOI: 10.3390/ijms19103099
Sequence Information:
- Length: 927
- Mass: 104649
- Checksum: 1F6879D6E20A2B1D
- Sequence:
MGTQDPGNMG TGVPASEQIS CAKEDPQVYC PEETGGTKDV QVTDCKSPED SRPPKETDCC NPEDSGQLMV SYEGKAMGYQ VPPFGWRICL AHEFTEKRKP FQANNVSLSN MIKHIGMGLR YLQWWYRKTH VEKKTPFIDM INSVPLRQIY GCPLGGIGGG TITRGWRGQF CRWQLNPGMY QHRTVIADQF TVCLRREGQT VYQQVLSLER PSVLRSWNWG LCGYFAFYHA LYPRAWTVYQ LPGQNVTLTC RQITPILPHD YQDSSLPVGV FVWDVENEGD EALDVSIMFS MRNGLGGGDD APGGLWNEPF CLERSGETVR GLLLHHPTLP NPYTMAVAAR VTAATTVTHI TAFDPDSTGQ QVWQDLLQDG QLDSPTGQST PTQKGVGIAG AVCVSSKLRP RGQCRLEFSL AWDMPRIMFG AKGQVHYRRY TRFFGQDGDA APALSHYALC RYAEWEERIS AWQSPVLDDR SLPAWYKSAL FNELYFLADG GTVWLEVLED SLPEELGRNM CHLRPTLRDY GRFGYLEGQE YRMYNTYDVH FYASFALIML WPKLELSLQY DMALATLRED LTRRRYLMSG VMAPVKRRNV IPHDIGDPDD EPWLRVNAYL IHDTADWKDL NLKFVLQVYR DYYLTGDQNF LKDMWPVCLA VMESEMKFDK DHDGLIENGG YADQTYDGWV TTGPSAYCGG LWLAAVAVMV QMAALCGAQD IQDKFSSILS RGQEAYERLL WNGRYYNYDS SSRPQSRSVM SDQCAGQWFL KACGLGEGDT EVFPTQHVVR ALQTIFELNV QAFAGGAMGA VNGMQPHGVP DKSSVQSDEV WVGVVYGLAA TMIQEGLTWE GFQTAEGCYR TVWERLGLAF QTPEAYCQQR VFRSLAYMRP LSIWAMQLAL QQQQHKKASW PKVKQGTGLR TGPMFGPKEA MANLSPE
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.