SLC52A2
entrez
79581
canonical
uniprot
Q9HAB3
canonical
ensembl
ENSG00000185803
resolver
ensembl
ENSG00000285112
resolver
ensp
ENSP00000333638
resolver
ensp
ENSP00000385961
resolver
ensp
ENSP00000431965
resolver
ensp
ENSP00000433583
resolver
ensp
ENSP00000434728
resolver
ensp
ENSP00000435820
resolver
ensp
ENSP00000496184
resolver
ensp
ENSP00000501554
resolver
ensp
ENSP00000501933
resolver
ensp
ENSP00000501973
resolver
ensp
ENSP00000501993
resolver
ensp
ENSP00000502274
resolver
ensp
ENSP00000502294
resolver
ensp
ENSP00000502406
resolver
ensp
ENSP00000502652
resolver
ensp
ENSP00000502670
resolver
ensp
ENSP00000502796
resolver
ensp
ENSP00000518278
resolver
ensp
ENSP00000518280
resolver
ensp
ENSP00000518281
resolver
ensp
ENSP00000518282
resolver
ensp
ENSP00000518283
resolver
ensp
ENSP00000518284
resolver
ensp
ENSP00000518285
resolver
ensp
ENSP00000518286
resolver
ensp
ENSP00000518287
resolver
ensp
ENSP00000518289
resolver
ensp
ENSP00000518290
resolver
ensp
ENSP00000518291
resolver
ensp
ENSP00000518292
resolver
ensp
ENSP00000518293
resolver
ensp
ENSP00000518294
resolver
ensp
ENSP00000518296
resolver
ensp
ENSP00000518297
resolver
ensp
ENSP00000546593
resolver
ensp
ENSP00000546594
resolver
ensp
ENSP00000546595
resolver
ensp
ENSP00000546596
resolver
ensp
ENSP00000583702
resolver
ensp
ENSP00000583704
resolver
ensp
ENSP00000583706
resolver
ensp
ENSP00000583707
resolver
ensp
ENSP00000618756
resolver
ensp
ENSP00000618757
resolver
ensp
ENSP00000618758
resolver
ensp
ENSP00000618760
resolver
ensp
ENSP00000618761
resolver
ensp
ENSP00000618762
resolver
enst
ENST00000329994
resolver
enst
ENST00000402965
resolver
enst
ENST00000526338
resolver
enst
ENST00000526891
resolver
enst
ENST00000527078
resolver
enst
ENST00000530047
resolver
enst
ENST00000532815
resolver
enst
ENST00000533662
resolver
enst
ENST00000534725
resolver
enst
ENST00000643944
resolver
enst
ENST00000674870
resolver
enst
ENST00000674929
resolver
enst
ENST00000675121
resolver
enst
ENST00000675280
resolver
enst
ENST00000675292
resolver
enst
ENST00000675597
resolver
enst
ENST00000675888
resolver
enst
ENST00000710449
resolver
enst
ENST00000710451
resolver
enst
ENST00000710453
resolver
enst
ENST00000710454
resolver
enst
ENST00000710455
resolver
enst
ENST00000710456
resolver
enst
ENST00000710457
resolver
enst
ENST00000710458
resolver
enst
ENST00000710459
resolver
enst
ENST00000710461
resolver
enst
ENST00000710462
resolver
enst
ENST00000710463
resolver
enst
ENST00000710464
resolver
enst
ENST00000710465
resolver
enst
ENST00000710466
resolver
enst
ENST00000710468
resolver
enst
ENST00000710469
resolver
enst
ENST00000876534
resolver
enst
ENST00000876535
resolver
enst
ENST00000876536
resolver
enst
ENST00000876537
resolver
enst
ENST00000913643
resolver
enst
ENST00000913645
resolver
enst
ENST00000913647
resolver
enst
ENST00000913648
resolver
enst
ENST00000948697
resolver
enst
ENST00000948698
resolver
enst
ENST00000948699
resolver
enst
ENST00000948701
resolver
enst
ENST00000948702
resolver
enst
ENST00000948703
resolver
genesymbol
SLC52A2
resolver
genesymbol_syn
GPR172A
resolver
genesymbol_syn
PAR1
resolver
genesymbol_syn
RFT3
resolver
hgnc
HGNC:30224
resolver
uniprot
A0A6Q8PHF8
resolver
uniprot
A8K6B6
resolver
uniprot
D3DWL8
resolver
uniprot
E9PKE4
resolver
uniprot
G1UCY1
resolver
uniprot
Q86UT1
resolver
uniprot_entry
A0A6Q8PHF8_HUMAN
resolver
uniprot_entry
E9PKE4_HUMAN
resolver
uniprot_entry
S52A2_HUMAN
resolver
uniprot_sec
A8K6B6
resolver
uniprot_sec
D3DWL8
resolver
uniprot_sec
G1UCY1
resolver
uniprot_sec
Q86UT1
resolver
activity_regulation
ACTIVITY REGULATION: Riboflavin transport is Na(+)-independent but moderately pH-sensitive (PubMed:20463145). Activity is strongly inhibited by riboflavin analogs, such as lumiflavin (PubMed:20463145). Weakly inhibited by flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) (PubMed:20463145). {ECO:0000269|PubMed:20463145}.
uniprot
proteins
amino_acid_sequence
MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRRLAPGKDEQVPIRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLPPRFLRSFFLGQGLSALLPCVLALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAAFQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLLGLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLACFLAMGVLCRSLAGLGGLSLLGVFCGGYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPALLAAGVAIQVGSLLGAVAMFPPTSIYHVFHSRKDCADPCDS
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:22740598, ECO:0000269|PubMed:22864630, ECO:0000269|PubMed:23243084, ECO:0000269|PubMed:24253200, ECO:0000269|PubMed:27702554}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism (PubMed:20463145, PubMed:22864630, PubMed:23243084, PubMed:24253200, PubMed:27702554). Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145). May also act as a receptor for 4-hydroxybutyrate (Probable). {ECO:0000269|PubMed:20463145, ECO:0000269|PubMed:22864630, ECO:0000269|PubMed:23243084, ECO:0000269|PubMed:24253200, ECO:0000269|PubMed:27702554, ECO:0000303|PubMed:20463145, ECO:0000305|PubMed:17197387}.; FUNCTION: (Microbial infection) In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A). {ECO:0000269|PubMed:12740431, ECO:0000269|PubMed:19307586}.
uniprot
proteins
mass_dalton
45777
uniprot
proteins
protein_family
Riboflavin transporter family
uniprot
proteins
pubmed
12740431
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
17197387
uniprot
proteins
pubmed
19307586
uniprot
proteins
pubmed
20463145
uniprot
proteins
pubmed
22740598
uniprot
proteins
pubmed
22864630
uniprot
proteins
pubmed
23243084
uniprot
proteins
pubmed
24253200
uniprot
proteins
pubmed
27702554
uniprot
proteins
sequence_length
445
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17197387, ECO:0000269|PubMed:20463145, ECO:0000269|PubMed:24253200, ECO:0000269|PubMed:27702554}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 14..34; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 47..67; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 86..106; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 112..132; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 147..167; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 196..216; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 277..297; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 312..332; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 339..359; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 366..386; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 404..424; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins