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Official Full Name
chromosome 20 open reading frame 54
This locus likely encodes a transmembrane protein that may function as a riboflavin transporter. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome.
C20ORF54; chromosome 20 open reading frame 54; riboflavin transporter 2; bA371L19.1; hRFT2; hypothetical protein LOC113278; BVVLS; C20orf54provided by HGNC; MGC10698; RFT2

Recent Research Progress

C20orf54 is located in autosomal 20p13 and contains five exons. The protein encoded by C20orf54 is involved in the transport function of riboflavin. Some studies have confirmed that C20orf54, as an important encoding gene involved in riboflavin transport, mainly exists in the small intestine and may participate in riboflavin absorption. If the gene C20orf54 is mutated, the transport and absorption of riboflavin in the body will also be affected. The intervention of riboflavin supplementation may result in individualized differences in the occurrence and development of esophageal squamous cell carcinoma (ESCC).

ESCC is one of the most common malignant tumors, but the pathogenesis of ESCC is still unclear. The evolution of normal esophageal mucosal cells into cancer cells is complicated, but studies show that genetic polymorphism is an important factor affecting the susceptibility of ESCC. Epidemiological statistics show that esophageal cancer has obvious geographical distribution, but ESCC occurs in a small number of people exposed to the same environmental factors. It can be seen that the susceptibility of individual genes plays a very important role in the occurrence and development of ESCC. Single nucleotide polymorphism (SNP) accounts for more than 90% of known polymorphism. Some SNP sites closely related to ESCC have been discovered by scholars successively. C20orf54 is a gene that encodes human riboflavin transfer protein. The coenzyme formed by riboflavin is an indispensable component of many oxidase systems. A study in kazak also found that the defective expression of C20orf54 was related to the development of ESCC, and pointed out that this may be the main mechanism for the decrease of plasma riboflavin levels in ESCC patients. Studies on SNP polymorphism detection at the rs3746804 site of C20orf54 gene have found that the C/C genotype is significantly higher than the normal control population in ESCC patients, suggesting that the C/C genotype at the rs3746804 site may be closely related to the susceptibility of ESCC. In a study, ESCC patients were grouped according to age, gender, clinical stage, lymph node metastasis and differentiation degree. The results showed that rs3746804 C20orf54 gene loci C/C genotype expression was significantly higher in the patients with lymph node metastasis patients without lymph node metastasis, prompt rs3746804 C20orf54 gene loci of C/C genotype changes may participate in the patients with ESCC tumor metastasis.

In summary, studies have shown that detection rate of C20orf54 gene C/C genotype at rs3746804 site is high in ESCC patients, which has certain clinical significance for early screening and prognosis evaluation of ESCC.


  1. Juleti Enivar et al. Analysis of correlation between SNP at rs13042395 site and promoter methylation of C20orf54 gene. Journal of Xinjiang Medical University, 2017, 40(11):1442-1445+1450.
  2. Huang Zhigang et al. Bioinformatics analysis of esophageal cancer susceptibility gene C20orf54. Chongqing Medicine, 2016, 45(22):3121-3123.
  3. Zhang Haijun et al. Meta-analysis of gene polymorphism of C20orf54 and genetic susceptibility to esophageal cancer in China. Agricultural Reclamation Medicine, 2016, 38(02):107-110.
  4. Ma huili et al. Study on the correlation between the polymorphism of C20orf54 gene rs3746804 and esophageal squamous cell carcinoma. Chongqing Medicine, 2014, 43(28):3777-3779.
  5. Fujiao Duan et al. Esophageal Squamous Cell Carcinoma and Gastric Cardia Adenocarcinoma Shared Susceptibility Locus in C20orf54: Evidence from Published Studies. Scientific Reports, 2015.
  6. Aifang Ji et al. The Functional SNP rs3746804 in C20orf54 Modifies Susceptibility to Esophageal Squamous Cell Carcinoma. Oncol Res Treat, 2014, 37:654–657.

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