Solute Carrier Family 52 (Riboflavin Transporter), Member 2

Alternative Names

  • SLC52A2
  • G Protein-Coupled Receptor 172A
  • GPR172A
  • G Protein-Coupled Receptor 41
  • GPCR41
  • Porcine Endogenous Retrovirus, Subgroup A, Receptor 1
  • PAR1
  • PERV-A Receptor 1
  • Riboflavin Transporter 3
  • RFT3
  • RFVT2
  • FLJ11856
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OMIM Number

607882

NCBI Gene ID

79581

Uniprot ID

Q9HAB3

Length

7,152 bases

No. of Exons

7

No. of isoforms

1

Protein Name

Solute carrier family 52, riboflavin transporter, member 2

Molecular Mass

45777 Da

Amino Acid Count

445

Genomic Location

chr8:144,354,135-144,361,286

Gene Map Locus
8q24.3

Description

The SCL52A2 gene codes for a riboflavin transporter protein. Unlike its paralogues, this gene is expressed mostly in the brain rather than in the small intestine. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_024531.4:c.419C>T LebanonNC_000008.11:g.144359911C>TLikely PathogenicBrown-Vialetto-Van Laere Syndrome 2NG_032872.1:g.6355C>T; NM_024531.4:c.419C>T ; NP_078807.1:p.Pro140Leu
NM_024531.4:c.916G>ALebanonChr8:144360408PathogenicPathogenicBrown-Vialetto-Van Laere Syndrome 2NG_032872.1:g.6852G>A ; NM_024531.4:c.916G>A; NP_078807.1:p.Gly306Arg39812464135470
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