Property Summary

NCBI Gene PubMed Count 17
Grant Count 687
R01 Count 468
Funding $71,319,894.51
PubMed Score 19.73
PubTator Score 17.67

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9HAB3 A8K6B6 D3DWL8 G1UCY1 Q86UT1
Symbols PAR1
RFT3
RFVT2
hRFT3
BVVLS2
GPCR41
GPR172A
D15Ertd747e

Gene

PANTHER Protein Class (2)

Gene RIF (5)

PMID Text
26791833 These results strongly implicate a potential role for SLC52A2 in riboflavin uptake by milk-producing MECs, a critical step in the transfer of riboflavin into breast milk.
24616084 Mutations in SLC52A2 result in a recognizable phenotype distinct from Brown-Vialetto-Van-Laere syndrome.
24253200 We demonstrate that SLC52A2 mutations cause reduced riboflavin uptake and reduced riboflavin transporter protein expression
24139842 data suggest that MMND is a distinct clinical subgroup of childhood onset MND patients where the known genetic defects are so far negative.
23506902 summary of recent findings on the cloning, nomenclature, functional characterization and genetic diseases of RFVT1/SLC52A1, RFVT2/SLC52A2 and RFVT3/SLC52A3 [review]

AA Sequence

MAAPTPARPVLTHLLVALFGMGSWAAVNGIWVELPVVVKELPEGWSLPSYVSVLVALGNLGLLVVTLWRR      1 - 70
LAPGKDEQVPIRVVQVLGMVGTALLASLWHHVAPVAGQLHSVAFLALAFVLALACCASNVTFLPFLSHLP     71 - 140
PRFLRSFFLGQGLSALLPCVLALVQGVGRLECPPAPINGTPGPPLDFLERFPASTFFWALTALLVASAAA    141 - 210
FQGLLLLLPPPPSVPTGELGSGLQVGAPGAEEEVEESSPLQEPPSQAAGTTPGPDPKAYQLLSARSACLL    211 - 280
GLLAATNALTNGVLPAVQSFSCLPYGRLAYHLAVVLGSAANPLACFLAMGVLCRSLAGLGGLSLLGVFCG    281 - 350
GYLMALAVLSPCPPLVGTSAGVVLVVLSWVLCLGVFSYVKVAASSLLHGGGRPALLAAGVAIQVGSLLGA    351 - 420
VAMFPPTSIYHVFHSRKDCADPCDS                                                 421 - 445
//

Text Mined References (18)

PMID Year Title
27702554 2016 SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.
26791833 2016 Riboflavin uptake transporter Slc52a2 (RFVT2) is upregulated in the mouse mammary gland during lactation.
25416956 2014 A proteome-scale map of the human interactome network.
24616084 2014 Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.
24253200 2014 Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
24139842 2013 Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.
23506902 Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52.
22740598 2012 Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
20463145 2010 Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.
19307586 2009 Single-round selection yields a unique retroviral envelope utilizing GPR172A as its host receptor.
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