SLCtables

SLC52A2

Protein name: N/D Aliases: RFVT2, RFT3, GPR172A, PERV-A receptor 1, GPCR41, PAR1, D15Ertd747e, FLJ11856 Substrates: N/D Transport type: Na+, Cl-, pH-independent Tissue and cellular expression: brain > salivary gland > several tissues Subcellular expression: N/D Disease: N/D Locus: 8q24.3 Sequence ID: NP_001240744.1, NP_001240745.1, NP_078807.1, Gene ID: 79581 Splice variants: N/D

S52A2_HUMAN (UniProt)

Gene names: SLC52A2, GPR172A, PAR1, RFT3
Protein names and data: S52A2_HUMAN, Full=Solute carrier family 52, riboflavin transporter, member 2, Full=Porcine endogenous retrovirus A receptor 1;Short=PERV-A receptor 1;Full=Protein GPR172A;Full=Riboflavin transporter 3;Short=hRFT3; Length: 445 a.a., Mass: 45777 Da,
fasta formatted sequence
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)
Disease: (OMIM: 607882 614707) Defects in SLC52A2 are the cause of Brown-Vialetto-Van Laere syndrome type 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
Cellular location: Cell membrane; Multi-pass membrane protein
Tissue specificity: Highly expressed in brain, fetal brain and salivary gland. Weakly expressed in other tissues

Database cross-references

UniProt: Q9HAB3
NextBio: 68566
OMIM: 607882 614707
Ensembl: ENST00000567429
GeneCard: GC08P144354
Guide to Pharmacology: SLC52A2 (2572)
SLC52 family of riboflavin transporters (2572)
HGNC: HGNC:30224

Genetic variants

See also Ensembl:ENST00000567429

306 - 306 G -> R (in BVVLS2). VAR_068694