Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Gba2 | Rat | hereditary spastic paraplegia 46 | | ISO | GBA2 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Gba2 | Rat | hereditary spastic paraplegia 46 | | ISO | GBA2 (Homo sapiens) | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
2. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
3. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:11489889 | PMID:12477932 | PMID:15057822 | PMID:15489334 | PMID:17080196 | PMID:17105727 | PMID:23250757 | PMID:23332916 | PMID:25803043 | PMID:26724485 | PMID:30308956 |
Gba2 (Rattus norvegicus - Norway rat) |
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GBA2 (Homo sapiens - human) |
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Gba2 (Mus musculus - house mouse) |
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Gba2 (Chinchilla lanigera - long-tailed chinchilla) |
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GBA2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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GBA2 (Canis lupus familiaris - dog) |
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Gba2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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GBA2 (Sus scrofa - pig) |
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GBA2 (Chlorocebus sabaeus - green monkey) |
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Gba2 (Heterocephalus glaber - naked mole-rat) |
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Variants in Gba2
34 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
RH141307 |
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RH134106 |
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BF387095 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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nervous system
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renal system
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reproductive system
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respiratory system
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9 | 11 | 49 | 113 | 91 | 90 | 59 | 25 | 59 | 6 | 218 | 97 | 93 | 45 | 60 | 31 |
RefSeq Transcripts | NM_001013091 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_039109583 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039109584 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039109585 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063287398 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC121204 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
BC088200 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC131848 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH473962 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000022002 ⟹ ENSRNOP00000022002 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000066708 ⟹ ENSRNOP00000059311 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001013091 ⟹ NP_001013109 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039109583 ⟹ XP_038965511 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039109584 ⟹ XP_038965512 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039109585 ⟹ XP_038965513 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063287398 ⟹ XP_063143468 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001013109 | (Get FASTA) | NCBI Sequence Viewer |
XP_038965511 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038965512 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038965513 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063143468 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH88200 | (Get FASTA) | NCBI Sequence Viewer |
EDL98757 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000059311.1 | ||
GenBank Protein | Q5M868 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001013109 ⟸ NM_001013091 |
- UniProtKB: | Q5M868 (UniProtKB/Swiss-Prot), D4A6U0 (UniProtKB/TrEMBL), A6IJ37 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSRNOP00000022002 ⟸ ENSRNOT00000022002 |
Ensembl Acc Id: | ENSRNOP00000059311 ⟸ ENSRNOT00000066708 |
RefSeq Acc Id: | XP_038965511 ⟸ XM_039109583 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038965512 ⟸ XM_039109584 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038965513 ⟸ XM_039109585 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_063143468 ⟸ XM_063287398 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q5M868-F1-model_v2 | AlphaFold | Q5M868 | 1-912 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:1305598 | AgrOrtholog |
BioCyc Gene | G2FUF-41503 | BioCyc |
Ensembl Genes | ENSRNOG00000016364 | Ensembl, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000066708.5 | UniProtKB/TrEMBL |
Gene3D-CATH | 1.50.10.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | 6-hairpin_glycosidase_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
6hp_glycosidase-like_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
B_Glucosidase_GBA2-typ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GH116_catalytic | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GH116_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Non-lysos_glucosylceramidase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:298399 | UniProtKB/TrEMBL |
NCBI Gene | 298399 | ENTREZGENE |
PANTHER | BILE ACID BETA-GLUCOSIDASE-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NON-LYSOSOMAL GLUCOSYLCERAMIDASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | DUF608 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Glyco_hydr_116N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Gba2 | PhenoGen |
PIRSF | Beta_gluc_GBA2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000016364 | RatGTEx |
Superfamily-SCOP | SSF48208 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A6IJ37 | ENTREZGENE, UniProtKB/TrEMBL |
D4A6U0 | ENTREZGENE, UniProtKB/TrEMBL | |
GBA2_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2017-03-07 | Gba2 | glucosylceramidase beta 2 | Gba2 | glucosidase beta 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2005-12-06 | Gba2 | glucosidase beta 2 | Gba2_predicted | glucosidase beta 2 (predicted) | Symbol and Name updated | 1559027 | APPROVED |
2005-01-12 | Gba2_predicted | glucosidase beta 2 (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |