Seroatlas · Human Serome Atlas

GBA2

Non-lysosomal glucosylceramidase

Also known as: AD035, DKFZp762K054, GBA2_HUMAN, KIAA1605, SPG46

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9HCG7
Gene: GBA2
Ensembl: ENSG00000070610
Chromosome: 9
Canonical length: 927 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Golgi apparatus,Cytosol

OverviewNCBI Gene

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 the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

927 residues, UniProt reviewed canonical sequence.

>Q9HCG7|GBA2
     1  MGTQDPGNMG TGVPASEQIS CAKEDPQVYC PEETGGTKDV QVTDCKSPED SRPPKETDCC
    61  NPEDSGQLMV SYEGKAMGYQ VPPFGWRICL AHEFTEKRKP FQANNVSLSN MIKHIGMGLR
   121  YLQWWYRKTH VEKKTPFIDM INSVPLRQIY GCPLGGIGGG TITRGWRGQF CRWQLNPGMY
   181  QHRTVIADQF TVCLRREGQT VYQQVLSLER PSVLRSWNWG LCGYFAFYHA LYPRAWTVYQ
   241  LPGQNVTLTC RQITPILPHD YQDSSLPVGV FVWDVENEGD EALDVSIMFS MRNGLGGGDD
   301  APGGLWNEPF CLERSGETVR GLLLHHPTLP NPYTMAVAAR VTAATTVTHI TAFDPDSTGQ
   361  QVWQDLLQDG QLDSPTGQST PTQKGVGIAG AVCVSSKLRP RGQCRLEFSL AWDMPRIMFG
   421  AKGQVHYRRY TRFFGQDGDA APALSHYALC RYAEWEERIS AWQSPVLDDR SLPAWYKSAL
   481  FNELYFLADG GTVWLEVLED SLPEELGRNM CHLRPTLRDY GRFGYLEGQE YRMYNTYDVH
   541  FYASFALIML WPKLELSLQY DMALATLRED LTRRRYLMSG VMAPVKRRNV IPHDIGDPDD
   601  EPWLRVNAYL IHDTADWKDL NLKFVLQVYR DYYLTGDQNF LKDMWPVCLA VMESEMKFDK
   661  DHDGLIENGG YADQTYDGWV TTGPSAYCGG LWLAAVAVMV QMAALCGAQD IQDKFSSILS
   721  RGQEAYERLL WNGRYYNYDS SSRPQSRSVM SDQCAGQWFL KACGLGEGDT EVFPTQHVVR
   781  ALQTIFELNV QAFAGGAMGA VNGMQPHGVP DKSSVQSDEV WVGVVYGLAA TMIQEGLTWE
   841  GFQTAEGCYR TVWERLGLAF QTPEAYCQQR VFRSLAYMRP LSIWAMQLAL QQQQHKKASW
   901  PKVKQGTGLR TGPMFGPKEA MANLSPE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GBA2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.23
Highest tissue expression: 96 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 96 nTPM
kidney: 88 nTPM
small intestine: 86 nTPM
colon: 80 nTPM
heart muscle: 79 nTPM
skeletal muscle: 73 nTPM

Single-cell type

enterocytes: 135 nCPM
adrenal medulla cells: 85 nCPM
colonocytes: 74 nCPM
myonuclei: 68 nCPM
cone photoreceptor cells: 64 nCPM
rod photoreceptor cells: 58 nCPM

Immune cell

basophil: 11 nTPM
naive B-cell: 4.8 nTPM
memory CD8 T-cell: 4.7 nTPM
plasmacytoid DC: 4.4 nTPM
intermediate monocyte: 3.9 nTPM
gdT-cell: 3.8 nTPM

Brain region

choroid plexus: 88 nTPM
thalamus: 78 nTPM
midbrain: 74 nTPM
pons: 71 nTPM
hypothalamus: 68 nTPM
cerebral cortex: 66 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GBA2.

Disease | AllUniProt

Conditions GBA2 is implicated in, by any mechanism.

Spastic paraplegia 46, autosomal recessive (SPG46) MIM:614409

Disease | GeneticClinVar

48 pathogenic / likely-pathogenic of 411 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hereditary spastic paraplegia 46
Spastic paraplegia
Hereditary spastic paraplegia
GBA2-related disorder
CEP290-related ciliopathy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.94
gnomAD pLI: 0
gnomAD missense Z: 1.67
DepMap mean gene effect: 0
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Six-hairpin glycosidase superfamily
Six-hairpin glycosidase-like superfamily
Glycosyl-hydrolase family 116, catalytic region
Beta-glucosidase GBA2-type
Glycosyl-hydrolase family 116, N-terminal
Non-lysosomal glucosylceramidase
Glycosyl-hydrolase family 116, catalytic region
beta-glucosidase 2, glycosyl-hydrolase family 116 N-term

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GBA2 as an antibody target. Whether an autoantibody or antibody against GBA2 could matter depends on whether native GBA2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GBA2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GBA2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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