SLC52A3

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) Band 20p13 Start 760,080 bp End 776,015 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 G3 Start 151,838,431 bp End 151,851,178 bp
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
Wikidata
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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.

Function

This locus likely encodes a transmembrane protein that may function as a riboflavin transporter.

Clinical significance

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

Further reading

• Fujimura M, Yamamoto S, Murata T, Yasujima T, Inoue K, Ohta KY, Yuasa H (2010). "Functional characteristics of the human ortholog of riboflavin transporter 2 and riboflavin-responsive expression of its rat ortholog in the small intestine indicate its involvement in riboflavin absorption". J. Nutr. 140 (10): 1722–7. doi:10.3945/jn.110.128330. PMID 20724488.
• Wang LD, Zhou FY, Li XM, Sun LD, Song X, Jin Y, Li JM, Kong GQ, Qi H, Cui J, Zhang LQ, Yang JZ, Li JL, Li XC, Ren JL, Liu ZC, Gao WJ, Yuan L, Wei W, Zhang YR, Wang WP, Sheyhidin I, Li F, Chen BP, Ren SW, Liu B, Li D, Ku JW, Fan ZM, Zhou SL, Guo ZG, Zhao XK, Liu N, Ai YH, Shen FF, Cui WY, Song S, Guo T, Huang J, Yuan C, Huang J, Wu Y, Yue WB, Feng CW, Li HL, Wang Y, Tian JY, Lu Y, Yuan Y, Zhu WL, Liu M, Fu WJ, Yang X, Wang HJ, Han SL, Chen J, Han M, Wang HY, Zhang P, Li XM, Dong JC, Xing GL, Wang R, Guo M, Chang ZW, Liu HL, Guo L, Yuan ZQ, Liu H, Lu Q, Yang LQ, Zhu FG, Yang XF, Feng XS, Wang Z, Li Y, Gao SG, Qige Q, Bai LT, Yang WJ, Lei GY, Shen ZY, Chen LQ, Li EM, Xu LY, Wu ZY, Cao WK, Wang JP, Bao ZQ, Chen JL, Ding GC, Zhuang X, Zhou YF, Zheng HF, Zhang Z, Zuo XB, Dong ZM, Fan DM, He X, Wang J, Zhou Q, Zhang QX, Jiao XY, Lian SY, Ji AF, Lu XM, Wang JS, Chang FB, Lu CD, Chen ZG, Miao JJ, Fan ZL, Lin RB, Liu TJ, Wei JC, Kong QP, Lan Y, Fan YJ, Gao FS, Wang TY, Xie D, Chen SQ, Yang WC, Hong JY, Wang L, Qiu SL, Cai ZM, Zhang XJ (2010). "Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54". Nat. Genet. 42 (9): 759–63. doi:10.1038/ng.648. PMID 20729853. S2CID 2155117.
• Lamesch P, Li N, Milstein S, Fan C, Hao T, Szabo G, Hu Z, Venkatesan K, Bethel G, Martin P, Rogers J, Lawlor S, McLaren S, Dricot A, Borick H, Cusick ME, Vandenhaute J, Dunham I, Hill DE, Vidal M (2007). "hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes". Genomics. 89 (3): 307–15. doi:10.1016/j.ygeno.2006.11.012. PMC 4647941. PMID 17207965.
• Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T (2005). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ (2010). "Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54". Am. J. Hum. Genet. 86 (3): 485–9. doi:10.1016/j.ajhg.2010.02.006. PMC 2833371. PMID 20206331.