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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Brown-Vialetto-Van Laere syndrome | | ISO | RGD:1349767 | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Brown-Vialetto-Van Laere syndrome | | ISO | RGD:1349767 | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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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. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | Identification and functional characterization of rat riboflavin transporter 2. | Yamamoto S, etal., J Biochem. 2009 Apr;145(4):437-43. doi: 10.1093/jb/mvn181. Epub 2009 Jan 3. |
6. | Identification and functional characterization of a novel human and rat riboflavin transporter, RFT1. | Yonezawa A, etal., Am J Physiol Cell Physiol. 2008 Sep;295(3):C632-41. doi: 10.1152/ajpcell.00019.2008. Epub 2008 Jul 16. |
PMID:12477932 | PMID:17197387 | PMID:20463145 | PMID:23413253 | PMID:27702554 | PMID:27964953 | PMID:31601465 |
Slc52a2 (Rattus norvegicus - Norway rat) |
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SLC52A2 (Homo sapiens - human) |
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Slc52a2 (Mus musculus - house mouse) |
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Slc52a2 (Chinchilla lanigera - long-tailed chinchilla) |
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SLC52A2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SLC52A2 (Canis lupus familiaris - dog) |
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Slc52a2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SLC52A2 (Sus scrofa - pig) |
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SLC52A2 (Chlorocebus sabaeus - green monkey) |
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Slc52a2 (Heterocephalus glaber - naked mole-rat) |
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Variants in Slc52a2
119 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 |
AI556833 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 1 | 1 | 26 | 8 | 8 | ||||||||
Low | 2 | 43 | 56 | 41 | 19 | 41 | 8 | 11 | 48 | 27 | 33 | 11 | 8 |
Below cutoff |
RefSeq Transcripts | NM_001109670 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006241826 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039079550 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039079551 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039079552 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039079554 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB362535 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC139605 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC133726 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH473950 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JACYVU010000186 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000047380 ⟹ ENSRNOP00000046721 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001109670 ⟹ NP_001103140 | ||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006241826 ⟹ XP_006241888 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039079550 ⟹ XP_038935478 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039079551 ⟹ XP_038935479 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039079552 ⟹ XP_038935480 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039079554 ⟹ XP_038935482 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001103140 | (Get FASTA) | NCBI Sequence Viewer |
XP_006241888 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038935478 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038935479 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038935480 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038935482 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAI33727 | (Get FASTA) | NCBI Sequence Viewer |
B5MEV3 | (Get FASTA) | NCBI Sequence Viewer | |
BAG71130 | (Get FASTA) | NCBI Sequence Viewer | |
EDM15963 | (Get FASTA) | NCBI Sequence Viewer | |
EDM15964 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001103140 ⟸ NM_001109670 |
- UniProtKB: | A3KN99 (UniProtKB/Swiss-Prot), B5MEV3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006241888 ⟸ XM_006241826 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A3KN99 (UniProtKB/Swiss-Prot), B5MEV3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000046721 ⟸ ENSRNOT00000047380 |
RefSeq Acc Id: | XP_038935478 ⟸ XM_039079550 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A3KN99 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_038935482 ⟸ XM_039079554 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A3KN99 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_038935479 ⟸ XM_039079551 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A3KN99 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_038935480 ⟸ XM_039079552 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A3KN99 (UniProtKB/Swiss-Prot) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-B5MEV3-F1-model_v2 | AlphaFold | B5MEV3 | 1-450 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13695428 | ||||||||
Promoter ID: | EPDNEW_R5951 | ||||||||
Type: | initiation region | ||||||||
Name: | Slc52a2_1 | ||||||||
Description: | solute carrier family 52 member 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:1560410 | AgrOrtholog |
BioCyc Gene | G2FUF-32923 | BioCyc |
Ensembl Genes | ENSRNOG00000032561 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSRNOP00000046721 | ENTREZGENE |
ENSRNOP00000046721.3 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENSRNOT00000047380 | ENTREZGENE |
ENSRNOT00000047380.5 | UniProtKB/Swiss-Prot | |
IMAGE_CLONE | IMAGE:7104339 | IMAGE-MGC_LOAD |
InterPro | Riboflavin_transptr | UniProtKB/Swiss-Prot |
KEGG Report | rno:362942 | UniProtKB/Swiss-Prot |
MGC_CLONE | MGC:156736 | IMAGE-MGC_LOAD |
NCBI Gene | 362942 | ENTREZGENE |
PANTHER | PTHR12929 | UniProtKB/Swiss-Prot |
SOLUTE CARRIER FAMILY 52, RIBOFLAVIN TRANSPORTER, MEMBER 2 | UniProtKB/Swiss-Prot | |
Pfam | DUF1011 | UniProtKB/Swiss-Prot |
PhenoGen | Slc52a2 | PhenoGen |
UniProt | A3KN99 | ENTREZGENE |
B5MEV3 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | A3KN99 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-02-24 | Slc52a2 | solute carrier family 52 member 2 | Slc52a2 | solute carrier family 52, riboflavin transporter, member 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2012-07-16 | Slc52a2 | solute carrier family 52, riboflavin transporter, member 2 | Gpr172a | G protein-coupled receptor 172A | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2011-04-29 | Gpr172a | G protein-coupled receptor 172A | Gpr172b | G protein-coupled receptor 172B | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-02-28 | Gpr172b | G protein-coupled receptor 172B | RGD1560410_predicted | similar to G protein-coupled receptor 172B (predicted) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2006-03-07 | RGD1560410_predicted | similar to G protein-coupled receptor 172B (predicted) | LOC362942 | similar to G protein-coupled receptor 172B | Symbol and Name status set to approved | 1299863 | APPROVED |
2006-02-09 | LOC362942 | similar to G protein-coupled receptor 172B | Symbol and Name status set to provisional | 70820 | PROVISIONAL |