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    SLC52A3 solute carrier family 52, riboflavin transporter, member 3 [ Homo sapiens (human) ]

    Gene ID: 113278, updated on 26-Feb-2013
    Official Symbol
    SLC52A3provided by HGNC
    Official Full Name
    solute carrier family 52, riboflavin transporter, member 3provided by HGNC
    Primary source
    HGNC:16187
    See related
    Ensembl:ENSG00000101276; HPRD:09843; MIM:613350; Vega:OTTHUMG00000031647
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RFT2; BVVLS; RFVT3; hRFT2; BVVLS1; C20orf54; bA371L19.1
    Summary
    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 signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012]
    Location :
    20p13
    Sequence :
    Chromosome: 20; NC_000020.10 (740724..749228, complement)
    See SLC52A3 in Epigenomics, MapViewer

    Chromosome 20 - NC_000020.10Genomic Context describing neighboring genes Neighboring gene sulfiredoxin 1 Neighboring gene scratch homolog 2, zinc finger protein (Drosophila) Neighboring gene family with sequence similarity 110, member A Neighboring gene ribosomal protein S10 pseudogene 5 Neighboring gene angiopoietin 4

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Decreased blood riboflavin levels are correlated with defective expression of RFT2 gene in gastric cancer. Eli M, et al. World J Gastroenterol, 2012 Jun 28. PMID 22791947.
    2. Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients. Dezfouli MA, et al. J Hum Genet, 2012 Sep. PMID 22718020.
    3. Functional SNPs in human C20orf54 gene influence susceptibility to esophageal squamous cell carcinoma. Ji A, et al. Asian Pac J Cancer Prev, 2011. PMID 22471455.
    4. Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2). Nabokina SM, et al. Mol Genet Metab, 2012 Apr. PMID 22273710.
    5. Role of cysteine residues in cell surface expression of the human riboflavin transporter-2 (hRFT2) in intestinal epithelial cells. Subramanian VS, et al. Am J Physiol Gastrointest Liver Physiol, 2011 Jul. PMID 21512156.

    See all (16) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Identification of novel mutations that affect amino acid changes in Brown-Vialetto-Van Laere syndrome patients.
      Title: Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.
    2. Defective expression of RFT2 is associated with the development of gastric carcinoma and may result in decreased plasma riboflavin levels in GC.
      Title: Decreased blood riboflavin levels are correlated with defective expression of RFT2 gene in gastric cancer.
    3. Single nucleotide polymorphism in C20orf54 gene is associated with esophageal squamous cell carcinoma.
      Title: Functional SNPs in human C20orf54 gene influence susceptibility to esophageal squamous cell carcinoma.
    4. Mutations of riboflavin transporter-2 gene is associated with Brown-Vialetto-Van Laere syndrome.
      Title: Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2).
    5. These results demonstrate a potential role for specific cysteine residues in the cell surface expression of riboflavin transporter 2 in human intestinal epithelial cells.
      Title: Role of cysteine residues in cell surface expression of the human riboflavin transporter-2 (hRFT2) in intestinal epithelial cells.
    6. 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
      Title: 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.
    7. Susceptibility loci at C20orf54 for esophageal squamous cell carcinoma.
      Title: Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54.
    8. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54.
    9. Discusses cloning of rat riboflavin transporter 2 and identification of a comparable protein in human.
      Title: Identification and functional characterization of rat riboflavin transporter 2.
    10. 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
      Title: Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.
    Submit: New GeneRIF Correction

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    • Vitamin digestion and absorption, organism-specific biosystem (from KEGG)
      Vitamin digestion and absorption, organism-specific biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...
    • Vitamin digestion and absorption, conserved biosystem (from KEGG)
      Vitamin digestion and absorption, conserved biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...

    Markers

    Genotypes

    Homology

    Clone Names

    • MGC10698

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    riboflavin transporter activity IDA
    Inferred from Direct Assay
    more info
    		  
    Process Evidence Code Pubs
    cellular response to heat IEA
    Inferred from Electronic Annotation
    more info
    		  
    riboflavin transport IDA
    Inferred from Direct Assay
    more info
    		  
    sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    		  
    Component Evidence Code Pubs
    integral to plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    Preferred Names
    solute carrier family 52, riboflavin transporter, member 3
    Names
    solute carrier family 52, riboflavin transporter, member 3
    riboflavin transporter 2
    solute carrier family 52 member 3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027687.1 RefSeqGene

      Range
      5001..13505
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_033409.3 → NP_212134.3  solute carrier family 52, riboflavin transporter, member 3

      Status: REVIEWED

      Source sequence(s)
      AI244952, AK074650, BC009750, DA302552, DA358731
      Consensus CDS
      CCDS13007.1
      UniProtKB/TrEMBL
      K0A6P4
      UniProtKB/Swiss-Prot
      Q9NQ40
      Related
      ENSP00000217254, OTTHUMP00000029939, ENST00000217254, OTTHUMT00000077482
      Conserved Domains (1) summary
      pfam06237
      Location:294 – 395
      Blast Score: 339
      DUF1011; Protein of unknown function (DUF1011)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000020.10 Reference GRCh37.p10 Primary Assembly

      Range
      740724..749228, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000152.1 Alternate HuRef

      Range
      692137..700684, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018931.1 Alternate CHM1_1.0

      Range
      689246..697750, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01053758.1 (29237..37784) None
    genomic AL118502.38 (29519..38023) None
    genomic AMYH01011661.1 (3196..11700) None
    genomic CH471133.3 EAX10657.1
      EAX10658.1
      EAX10659.1
    genomic HH961814.1 CBX51380.1
    mRNA AI244952.1 None
    mRNA AK074650.1 BAC11113.1
    mRNA AK291706.1 BAF84395.1
    mRNA BC009750.2 AAH09750.2
    mRNA DA302552.1 None
    mRNA DA358731.1 None
    mRNA JX478249.1 AFS68799.1
    other-genetic HQ448283.1 ADQ32763.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQ40.4 GenPept UniProtKB/Swiss-Prot:Q9NQ40

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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    Molecular Biology Databases
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    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
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        BioAssays, RNAi Target,Active
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      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
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      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
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        Related Probe entry
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      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
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        SNPs linked from GeneView
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        Gene Genotype Report
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        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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