Property Summary

NCBI Gene PubMed Count 32
PubMed Score 64.22
PubTator Score 57.25

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma 1.140 3.9e-06
intraductal papillary-mucinous neoplasm ... 1.800 8.3e-04
ductal carcinoma in situ 1.200 1.7e-04
psoriasis 1.700 4.8e-62

Gene RIF (24)

PMID Text
26722538 RFT2 plays an important role in gastric carcinogenesis by modulating riboflavin absorption
26154995 C20orf54 rs13042395 polymorphism was significantly associated with decreased ESCC and GCA risk especially for the subjects with under-weight or normal.
25427582 A close association exists between functional SNP rs3746804 in C20orf54 and susceptibility to esophageal squamous cell carcinoma
25394472 Binding of Sp1 to the minimal SLC52A3 promoter.
25045844 Results suggest that RFT2 contributes to esophageal squamous cell carcinoma tumorigenesis and may serve as a potential therapeutic target.
24761851 Increase in methylation of CpG 2 and CpG 3 in hRFT2gene promoter region is associated with the genesis of cervical squamous cell carcinoma.
24264046 These results strongly suggest that RFVT3 would functionally be involved in riboflavin absorption in the apical membranes of intestinal epithelial cells
24260322 C20orf54 expression were significantly up-regulated in CSCC.
24152165 the single-nucleotide polymorphism rs13042395 in C20orf54 showed a significantly lower risk of esophageal squamous cell carcinoma in the younger age group but no significant association in the older group in a Korean population.
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]
23413253 Intestinal riboflavin uptake process undergoes differentiation-dependent upregulation and suggest that this is mediated (at least in part) via transcriptional mechanisms of SLC52A1 and SLC52A3.
23275236 Defective expression of C20orf54 is associated with the development of Kazak esophageal squamous cell carcinoma and this may represent a mechanism underlying the decreased plasma riboflavin levels in ESCC.
22791947 Defective expression of RFT2 is associated with the development of gastric carcinoma and may result in decreased plasma riboflavin levels in GC.
22718020 Identification of novel mutations that affect amino acid changes in Brown-Vialetto-Van Laere syndrome patients.
22533825 RFT2 protein functional single nucleotide polymorphism might be associated with the development of esophageal squamous cell carcinoma.
22471455 Single nucleotide polymorphism in C20orf54 gene is associated with esophageal squamous cell carcinoma.
22273710 Mutations of riboflavin transporter-2 gene is associated with Brown-Vialetto-Van Laere syndrome.
21512156 These results demonstrate a potential role for specific cysteine residues in the cell surface expression of riboflavin transporter 2 in human intestinal epithelial cells.
20729853 Susceptibility loci at C20orf54 for esophageal squamous cell carcinoma.
20729853 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20724488 results indicate that riboflavin transporter 2(RFT2) is a transporter involved in the epithelial uptake of riboflavin in the small intestine for its nutritional utilization
20206331 identified a candidate gene, C20orf54, in a consanguineous family with Brown-Vialetto-Van Laere syndrome with multiple affected individuals and subsequently demonstrated that mutations in this gene were the cause of disease in other, unrelated families
19122205 Discusses cloning of rat riboflavin transporter 2 and identification of a comparable protein in human.

AA Sequence

MAFLMHLLVCVFGMGSWVTINGLWVELPLLVMELPEGWYLPSYLTVVIQLANIGPLLVTLLHHFRPSCLS      1 - 70
EVPIIFTLLGVGTVTCIIFAFLWNMTSWVLDGHHSIAFLVLTFFLALVDCTSSVTFLPFMSRLPTYYLTT     71 - 140
FFVGEGLSGLLPALVALAQGSGLTTCVNVTEISDSVPSPVPTRETDIAQGVPRALVSALPGMEAPLSHLE    141 - 210
SRYLPAHFSPLVFFLLLSIMMACCLVAFFVLQRQPRCWEASVEDLLNDQVTLHSIRPREENDLGPAGTVD    211 - 280
SSQGQGYLEEKAAPCCPAHLAFIYTLVAFVNALTNGMLPSVQTYSCLSYGPVAYHLAATLSIVANPLASL    281 - 350
VSMFLPNRSLLFLGVLSVLGTCFGGYNMAMAVMSPCPLLQGHWGGEVLIVASWVLFSGCLSYVKVMLGVV    351 - 420
LRDLSRSALLWCGAAVQLGSLLGALLMFPLVNVLRLFSSADFCNLHCPA                         421 - 469
//

Text Mined References (32)

PMID Year Title
26722538 2015 Correlation analysis of riboflavin, RFT2 and Helicobater pylori in gastric carcinoma.
26154995 2015 Esophageal Squamous Cell Carcinoma and Gastric Cardia Adenocarcinoma Shared Susceptibility Locus in C20orf54: Evidence from Published Studies.
25427582 2014 The functional SNP rs3746804 in C20orf54 modifies susceptibility to esophageal squamous cell carcinoma.
25394472 2015 Identification and characterization of the minimal 5'-regulatory region of the human riboflavin transporter-3 (SLC52A3) in intestinal epithelial cells.
25045844 2014 RFT2 is overexpressed in esophageal squamous cell carcinoma and promotes tumorigenesis by sustaining cell proliferation and protecting against cell death.
24761851 2014 Epigenetic regulation of human riboflavin transporter 2(hRFT2) in cervical cancers from Uighur women.
24264046 2014 Functional involvement of RFVT3/SLC52A3 in intestinal riboflavin absorption.
24260322 2013 Association of the plasma and tissue riboflavin levels with C20orf54 expression in cervical lesions and its relationship to HPV16 infection.
24152165 Replication of results of genome-wide association studies on esophageal squamous cell carcinoma susceptibility loci in a Korean population.
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.
23413253 2013 Differentiation-dependent regulation of intestinal vitamin B(2) uptake: studies utilizing human-derived intestinal epithelial Caco-2 cells and native rat intestine.
23275236 2013 Association of the plasma riboflavin levels and riboflavin transporter (C20orf54) gene statuses in Kazak esophageal squamous cell carcinoma patients.
22791947 2012 Decreased blood riboflavin levels are correlated with defective expression of RFT2 gene in gastric cancer.
22718020 2012 Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.
22533825 2013 Functional single nucleotide polymorphism in C20orf54 modifies susceptibility to esophageal squamous cell carcinoma.
22471455 2011 Functional SNPs in human C20orf54 gene influence susceptibility to esophageal squamous cell carcinoma.
22273710 2012 Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2).
21512156 2011 Role of cysteine residues in cell surface expression of the human riboflavin transporter-2 (hRFT2) in intestinal epithelial cells.
21110228 2011 Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.
20729853 2010 Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54.
20724488 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.
20463145 2010 Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain.
20206331 2010 Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.
19122205 2009 Identification and functional characterization of rat riboflavin transporter 2.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16303743 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.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.