Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Gba2 | Mouse | 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 | Mouse | hereditary spastic paraplegia 46 | | ISO | GBA2 (Homo sapiens) | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | Mouse MP Annotation Import Pipeline | RGD automated import 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:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12477932 | PMID:12520002 | PMID:15226823 | PMID:15368895 | PMID:15489334 | PMID:15782199 | PMID:16141072 |
PMID:16141073 | PMID:16778019 | PMID:17080196 | PMID:17105727 | PMID:17848577 | PMID:19092943 | PMID:19809509 | PMID:19933215 | PMID:21267068 | PMID:21677750 | PMID:21873635 | PMID:22659419 |
PMID:22764777 | PMID:23096701 | PMID:23250757 | PMID:23867462 | PMID:23880767 | PMID:24639522 | PMID:25803043 | PMID:26275242 | PMID:26724485 | PMID:28258214 | PMID:28373486 | PMID:30662006 |
PMID:30973865 | PMID:31299418 | PMID:32144204 | PMID:32325033 | PMID:32554809 | PMID:38355793 |
Gba2 (Mus musculus - house mouse) |
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GBA2 (Homo sapiens - human) |
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Gba2 (Rattus norvegicus - Norway rat) |
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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
309 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 |
AW538053 |
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C80076 |
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AU044960 |
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UniSTS:234909 |
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UniSTS:234911 |
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RefSeq Transcripts | NM_001425035 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_172692 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK089192 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK158174 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK173213 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK178058 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK180067 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK180481 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK183149 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK186710 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK188452 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK199562 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK204719 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK205973 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK214862 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK217543 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL732626 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BB869336 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC031397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC034105 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC056935 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466565 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ709107 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSMUST00000030189 ⟹ ENSMUSP00000030189 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000128403 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000130443 ⟹ ENSMUSP00000119589 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000139606 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000144968 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000148426 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000152251 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001425035 ⟹ NP_001411964 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_172692 ⟹ NP_766280 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001411964 | (Get FASTA) | NCBI Sequence Viewer |
NP_766280 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH56935 | (Get FASTA) | NCBI Sequence Viewer |
BAC40785 | (Get FASTA) | NCBI Sequence Viewer | |
BAD32491 | (Get FASTA) | NCBI Sequence Viewer | |
EDL02461 | (Get FASTA) | NCBI Sequence Viewer | |
EDL02462 | (Get FASTA) | NCBI Sequence Viewer | |
EDL02463 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000030189 | ||
ENSMUSP00000030189.8 | |||
ENSMUSP00000119589.2 | |||
GenBank Protein | Q69ZF3 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_766280 ⟸ NM_172692 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q6PGM3 (UniProtKB/Swiss-Prot), Q8BTN9 (UniProtKB/Swiss-Prot), Q69ZF3 (UniProtKB/Swiss-Prot) |
- Sequence: |
Ensembl Acc Id: | ENSMUSP00000119589 ⟸ ENSMUST00000130443 |
Ensembl Acc Id: | ENSMUSP00000030189 ⟸ ENSMUST00000030189 |
RefSeq Acc Id: | NP_001411964 ⟸ NM_001425035 |
- Peptide Label: | isoform 2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q69ZF3-F1-model_v2 | AlphaFold | Q69ZF3 | 1-918 | view protein structure |
RGD ID: | 6883236 | ||||||||
Promoter ID: | EPDNEW_M5069 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Gba2_2 | ||||||||
Description: | Mus musculus glucosidase beta 2 , mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M5070 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6883238 | ||||||||
Promoter ID: | EPDNEW_M5070 | ||||||||
Type: | initiation region | ||||||||
Name: | Gba2_1 | ||||||||
Description: | Mus musculus glucosidase beta 2 , mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M5069 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6835682 | ||||||||
Promoter ID: | MM_KWN:37361 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, Kidney, Liver, Lung, MEF_B4, MEF_B6 | ||||||||
Transcripts: | OTTMUST00000016233, UC008SQH.1 | ||||||||
Position: |
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RGD ID: | 6835357 | ||||||||
Promoter ID: | MM_KWN:37362 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | BoneMarrow_0Hour, BoneMarrow_4Hour, Liver, Lung | ||||||||
Transcripts: | OTTMUST00000016231 | ||||||||
Position: |
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RGD ID: | 6835355 | ||||||||
Promoter ID: | MM_KWN:37363 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day4, 3T3L1_Day6, BoneMarrow_0Hour, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6 | ||||||||
Transcripts: | ENSMUST00000107888, OTTMUST00000016147, OTTMUST00000016148, OTTMUST00000016149, OTTMUST00000016232, OTTMUST00000064236 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:2654325 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000028467 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000030189 | ENTREZGENE |
ENSMUST00000030189.14 | UniProtKB/Swiss-Prot | |
ENSMUST00000130443.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.50.10.10 | UniProtKB/Swiss-Prot |
InterPro | 6-hairpin_glycosidase_sf | UniProtKB/Swiss-Prot |
6hp_glycosidase-like_sf | UniProtKB/Swiss-Prot | |
B_Glucosidase_GBA2-typ | UniProtKB/Swiss-Prot | |
GH116_catalytic | UniProtKB/Swiss-Prot | |
GH116_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Non-lysos_glucosylceramidase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:230101 | UniProtKB/Swiss-Prot |
MGD | MGI:2654325 | ENTREZGENE |
NCBI Gene | 230101 | 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 |
Glyco_hydr_116N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Gba2 | PhenoGen |
PIRSF | Beta_gluc_GBA2 | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF48208 | UniProtKB/Swiss-Prot |
UniProt | B1AWI3_MOUSE | UniProtKB/TrEMBL |
GBA2_MOUSE | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q6PGM3 | ENTREZGENE | |
Q8BTN9 | ENTREZGENE | |
UniProt Secondary | Q6PGM3 | UniProtKB/Swiss-Prot |
Q8BTN9 | UniProtKB/Swiss-Prot |