Version 5.4
Homo sapiens Protein: SLC52A2
Summary
InnateDB Protein IDBP-602048.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC52A2
Protein Name G protein-coupled receptor 172A
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000436768
InnateDB Gene IDBG-40721 (SLC52A2)
Protein Structure
UniProt Annotation
Function Riboflavin transporter. Riboflavin transport is Na(+)- independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin. Weakly inhibited by flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN). In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A). {ECO:0000269PubMed:12740431, ECO:0000269PubMed:19307586, ECO:0000269PubMed:20463145}.
Subcellular Localization Cell membrane {ECO:0000269PubMed:20463145}; Multi-pass membrane protein {ECO:0000269PubMed:20463145}.
Disease Associations Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]: An autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting resulting in respiratory insufficiency and loss of independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation. {ECO:0000269PubMed:22740598}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highly expressed in brain, fetal brain and salivary gland. Weakly expressed in other tissues. {ECO:0000269PubMed:12740431, ECO:0000269PubMed:20463145}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0001618 virus receptor activity
GO:0032217 riboflavin transporter activity
Biological Process
GO:0009615 response to virus
GO:0032218 riboflavin transport
Cellular Component
GO:0005887 integral component of plasma membrane
Protein Structure and Domains
PDB ID
InterPro IPR009357 Endogenous retrovirus receptor
PFAM PF06237
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9HAB3
PhosphoSite PhosphoSite-Q9HAB3
TrEMBL F5GXA8
UniProt Splice Variant
Entrez Gene 79581
UniGene Hs.6459
RefSeq XP_006716721
HUGO HGNC:30224
OMIM 607882
CCDS CCDS6423
HPRD 07431
IMGT
EMBL AB522904 AF205589 AK021918 AK027888 AK291581 AY070774 BC002917 CH471162
GenPept AAH02917 AAL59882 BAB13936 BAB55433 BAF84270 BAK79010 EAW82115 EAW82116

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca