• Gene id: 113278

Gene Summary

• Gene Symbol: SLC52A3   Gene   UCSC   Ensembl
• Aliases: BVVLS, BVVLS1, C20orf54, RFT2, RFVT3, bA371L19.1, hRFT2
• Gene name: solute carrier family 52 member 3
• Alternate names: solute carrier family 52, riboflavin transporter, member 3, SLC52A3a, SLC52A3b, riboflavin transporter 2, solute carrier family 52 (riboflavin transporter), member 3,
• Gene location: 20p13 (775984: 760079)     Exons: 7     NC_000020.11
• Gene summary(Entrez): This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization si
• OMIM: 164940

Protein Summary

• Protein general information: Q9NQ40  
  • Name: Solute carrier family 52, riboflavin transporter, member 3 (Riboflavin transporter 2) (hRFT2)
  • Length: 469  
  • Mass: 50805
  • Tissue specificity: Predominantly expressed in testis. Highly expressed in small intestine and prostate. {ECO
• Sequence:

  MAFLMHLLVCVFGMGSWVTINGLWVELPLLVMELPEGWYLPSYLTVVIQLANIGPLLVTLLHHFRPSCLSEVPII
  FTLLGVGTVTCIIFAFLWNMTSWVLDGHHSIAFLVLTFFLALVDCTSSVTFLPFMSRLPTYYLTTFFVGEGLSGL
  LPALVALAQGSGLTTCVNVTEISDSVPSPVPTRETDIAQGVPRALVSALPGMEAPLSHLESRYLPAHFSPLVFFL
  LLSIMMACCLVAFFVLQRQPRCWEASVEDLLNDQVTLHSIRPREENDLGPAGTVDSSQGQGYLEEKAAPCCPAHL
  AFIYTLVAFVNALTNGMLPSVQTYSCLSYGPVAYHLAATLSIVANPLASLVSMFLPNRSLLFLGVLSVLGTCFGG
  YNMAMAVMSPCPLLQGHWGGEVLIVASWVLFSGCLSYVKVMLGVVLRDLSRSALLWCGAAVQLGSLLGALLMFPL
  VNVLRLFSSADFCNLHCPA

• Structural information:
  • Interpro: IPR009357  
  • STRING: ENSP00000217254
• Other Databases: GeneCards:  SLC52A3  Malacards:  SLC52A3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032218	riboflavin transport	IBA	biological process
GO:0032217	riboflavin transmembrane transporter activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0032218	riboflavin transport	IDA	biological process
GO:0032218	riboflavin transport	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0032217	riboflavin transmembrane transporter activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0007605	sensory perception of sound	IMP	biological process
GO:0032218	riboflavin transport	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0032217	riboflavin transmembrane transporter activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006771	riboflavin metabolic process	TAS	biological process
GO:0034605	cellular response to heat	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04977	Vitamin digestion and absorption

Diseases

Associated diseases	References
Brown-Vialetto-Van Laere syndrome	KEGG:H01903
Infantile progressive bulbar palsy	KEGG:H00841
Brown-Vialetto-Van Laere syndrome	KEGG:H01903
Infantile progressive bulbar palsy	KEGG:H00841
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881