| Gene Information | |
|---|---|
| Gene Name | SPG46 |
| Organism | Homo sapiens (Human) |
| Gene Length | 927 |
| Protein Names | 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-glucosidase GBA2) (EC 3.2.1.-) (Glucosylceramidase 2) (Non-lysosomal cholesterol glycosyltransferase) (Non-lysosomal galactosylceramidase) (EC 3.2.1.46) (Non-lysosomal glycosylceramidase) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q9HCG7 |
| Gene Card | GBA2 |
| Uniprot ID | Q9HCG7 |
| Pfam | PF04685; PF12215 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Widely expressed (PubMed:11489889). Mainly expressed in brain, heart, skeletal muscle, kidney and placenta and expressed at lower levels in liver, spleen, small intestine and lung (PubMed:11489889). Detectable in colon, thymus and peripheral blood leukocytes (PubMed:11489889). {ECO:0000269|PubMed:11489889}. |
| Pharmacological Animal Models | 0.000730(Chimpanzee);0.001000(Mouse);NULL(Rat);0.200000(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs398123064 rs398123012 rs398123015 |
| Subcellular location [CC] | Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q69ZF3}; Peripheral membrane protein {ECO:0000269|PubMed:11489889}; Cytoplasmic side {ECO:0000250|UniProtKB:Q69ZF3}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q69ZF3}; Peripheral membrane protein {ECO:0000269|PubMed:11489889}; Cytoplasmic side {ECO:0000250|UniProtKB:Q69ZF3}. Note=Localization to the plasma membrane and alternative topologies have also been reported. {ECO:0000269|PubMed:11489889, ECO:0000269|PubMed:17105727}. |
| Mouse PG classification | NA |
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