SLC52A3

Solute carrier family 52 (riboflavin transporter), member 3, formerly known as chromosome 20 open reading frame 54 and riboflavin transporter 2, is a protein that in humans is encoded by the SLC52A3 gene.^[5][6]

SLC52A3
Identifiers
Aliases	SLC52A3, BVVLS, BVVLS1, C20orf54, RFT2, RFVT3, bA371L19.1, hRFT2, solute carrier family 52 member 3
External IDs	OMIM: 613350; MGI: 1916948; HomoloGene: 12324; GeneCards: SLC52A3; OMA:SLC52A3 - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20p13 Start 760,080 bp[1] End 776,015 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 G3 Start 151,838,431 bp[2] End 151,851,178 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right testis mucosa of transverse colon left testis mucosa of ileum jejunal mucosa duodenum apex of heart deltoid muscle tibialis anterior muscle testicle Top expressed in intestinal villus proximal tubule jejunum right kidney transitional epithelium of urinary bladder pyloric antrum Paneth cell crypt of lieberkuhn of small intestine ileum epithelium of stomach More reference expression data BioGPS n/a
Gene ontology Molecular function riboflavin transmembrane transporter activity Cellular component integral component of membrane apical plasma membrane membrane integral component of plasma membrane plasma membrane nucleus cytoplasm nuclear membrane Biological process riboflavin metabolic process hearing riboflavin transport cellular response to heat Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 113278 69698 Ensembl ENSG00000101276 ENSMUSG00000027463 UniProt Q9NQ40 Q9D6X5 RefSeq (mRNA) NM_033409 NM_001370085 NM_001370086 NM_001164819 NM_001164820 NM_027172 RefSeq (protein) NP_212134 NP_001357014 NP_001357015 NP_001158291 NP_001158292 NP_081448 Location (UCSC) Chr 20: 0.76 – 0.78 Mb Chr 2: 151.84 – 151.85 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

This locus likely encodes a transmembrane protein that may function as a riboflavin transporter.^[5][6]

Clinical significance

Mutations at this locus have been associated with Fazio–Londe disease and Brown-Vialetto-Van Laere syndrome.^[7][8]