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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC52A3 Gene

protein-coding   GIFtS: 48
GCID: GC20M000741

Solute Carrier Family 52 (Riboflavin Transporter), Member...

(Previous name: chromosome 20 open reading frame 54)
(Previous symbol: C20orf54)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Solute Carrier Family 52 (Riboflavin Transporter), Member 31 2     Hypothetical Protein LOC1132781
C20orf541 2 3 5     BVVLS12
RFT22 3 5     RFVT32
Riboflavin Transporter 22 3     bA371L19.12
hRFT22 3     Solute Carrier Family 52 Member 32
BVVLS2 5     Solute Carrier Family 52, Riboflavin Transporter, Member 32
Chromosome 20 Open Reading Frame 541     

External Ids:    HGNC: 161871   Entrez Gene: 1132782   Ensembl: ENSG000001012767   OMIM: 6133505   UniProtKB: Q9NQ403   

Export aliases for SLC52A3 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC52A3 Gene:
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)

GeneCards Summary for SLC52A3 Gene: 
SLC52A3 (solute carrier family 52 (riboflavin transporter), member 3) is a protein-coding gene. Diseases associated with SLC52A3 include fazio londe syndrome, and brown-vialetto-van laere syndrome, and among its related super-pathways are Metabolism of water-soluble vitamins and cofactors and Metabolic pathways. GO annotations related to this gene include riboflavin transporter activity. An important paralog of this gene is SLC52A2.

UniProtKB/Swiss-Prot: S52A3_HUMAN, Q9NQ40
Function: Riboflavin transporter. Riboflavin transport is Na(+)-independent but moderately pH-sensitive. Activity
is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN) and flavin adenine
dinucleotide (FAD), and to a lesser extent by amiloride

Gene Wiki entry for SLC52A3 (C20orf54) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011387.8  NC_018931.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SLC52A3
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SLC52A3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC52A3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

SLC52A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC52A3 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M000741:  view genomic region     (about GC identifiers)

Start:
740,724 bp from pter      End:
749,228 bp from pter
Size:
8,505 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: S52A3_HUMAN, Q9NQ40 (See protein sequence)
Recommended Name: Solute carrier family 52, riboflavin transporter, member 3  
Size: 469 amino acids; 50805 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
Caution: It is uncertain whether Met-1 or Met-5 is the initiator
Secondary accessions: A8K6P1 Q5W1A0 Q5W1A1 Q8NCL7 Q96GD5
Alternative splicing: 2 isoforms:  Q9NQ40-1   Q9NQ40-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC52A3: NX_Q9NQ40

Explore proteomics data for SLC52A3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NQ40

  • SLC52A3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC52A3 Protein Expression
    REFSEQ proteins: NP_212134.3  
    ENSEMBL proteins: 
     ENSP00000217254   ENSP00000371370  
    Reactome Protein details: Q9NQ40
    Human Recombinant Protein Products for SLC52A3: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IDA--

    SLC52A3 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    1 InterPro protein domain:
     IPR009357 Endogenous_retrovirus_rcpt

    Graphical View of Domain Structure for InterPro Entry Q9NQ40

    ProtoNet protein and cluster: Q9NQ40

    UniProtKB/Swiss-Prot: S52A3_HUMAN, Q9NQ40
    Similarity: Belongs to the riboflavin transporter family


    SLC52A3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S52A3_HUMAN, Q9NQ40
    Function: Riboflavin transporter. Riboflavin transport is Na(+)-independent but moderately pH-sensitive. Activity
    is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN) and flavin adenine
    dinucleotide (FAD), and to a lesser extent by amiloride
    Biophysicochemical properties: Kinetic parameters: KM=0.98 uM for riboflavin;

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0032217riboflavin transporter activity IDA--
         
    SLC52A3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC52A3:
     Increased HPV18 LCR reporter a 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc52a3):
     hematopoietic system  mortality/aging 

    SLC52A3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC52A3 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC52A3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    2Metabolism
    Metabolism0.40
    3Vitamin digestion and absorption
    Vitamin digestion and absorption
    4Vitamin B2 (riboflavin) metabolism
    Vitamin B2 (riboflavin) metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for SLC52A3
        Metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors
    Vitamin B2 (riboflavin) metabolism


    1         Kegg Pathway  (Kegg details for SLC52A3):
        Vitamin digestion and absorption


    SLC52A3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC52A3

    2 Interacting proteins for SLC52A3 (Q9NQ403) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIP13Q156453I2D: score=3 
    HOMER2Q9NSB83I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006771riboflavin metabolic process TAS--
    GO:0007605sensory perception of sound IMP--
    GO:0032218riboflavin transport IDA--

    SLC52A3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC52A3 (S52A3)

    Search CenterWatch for drugs/clinical trials and news about SLC52A3 / S52A3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC52A3 gene: 
    NM_033409.3  

    Unigene Cluster for SLC52A3:

    Solute carrier family 52, riboflavin transporter, member 3
    Hs.283865  [show with all ESTs]
    Unigene Representative Sequence: NM_033409
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000217254(uc002wed.4) ENST00000381944(uc002wee.2) ENST00000473664
    ENST00000488495
    miRNA
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    Additional mRNA sequence: 

    AK291706.1 BC009750.2 JX478249.1 

    5 DOTS entries:

    DT.91729600  DT.442493  DT.92066299  DT.120812592  DT.100722324 

    24/51 AceView cDNA sequences (see all 51):

    BX102356 AI804916 BX359203 BE222918 CB306944 AI492407 AI700017 BC009750 
    AW295908 AA903862 AI638176 AW438810 NM_033409 AW189419 BX350153 CD635112 
    AL547105 CD635108 AI799867 AA722541 AI377348 AK074650 AW082342 AL044006 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SLC52A3    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6
    SP1:              -                           
    SP2:              -                           
    SP3:                                          


    ECgene alternative splicing isoforms for SLC52A3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC52A3 expression in normal human tissues (normalized intensities)      SLC52A3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGAGCCCCT
    SLC52A3 Expression
    About this image


    SLC52A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Proximal Tubule Cells Proximal Tubule
             Proximal Tubule
             visceral organ/metanephros/renal cortex   
     
     Lower Urinary Tract (Urinary System)
             visceral organ/metanephros/renal cortex   

    See SLC52A3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC52A3

    SOURCE GeneReport for Unigene cluster: Hs.283865

    UniProtKB/Swiss-Prot: S52A3_HUMAN, Q9NQ40
    Tissue specificity: Predominantly expressed in testis. Highly expressed in small intestine and prostate

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SLC52A3 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc52a31 , 5 solute carrier protein family 52, member 31, 5 77.58(n)1
    75.76(a)1
      2 (74.83 cM)5
    696981  NM_001164819.11  NP_001158291.11 
     1519965355 
    chicken
    (Gallus gallus)
    Aves C20H20orf541 chromosome 20 open reading frame, human C20orf54 67.42(n)
    60.63(a)
      419270  XM_417443.3  XP_417443.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLC52A36
    --
    Uncharacterized protein
    55(a)
    49(a)
    1 ↔ 1
    possible ortholog
    GL343346.1(306432-313760)
    AAWZ02038103(2677-5860)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1420061962   -- 77.54(n)    142006196 
    zebrafish
    (Danio rerio)
    Actinopterygii slc52a31 solute carrier family 52, riboflavin transporter, member more 60.36(n)
    58.54(a)
      678609  NM_001040357.1  NP_001035447.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG115761 CG11576 53.06(n)
    41.32(a)
      43756  NM_143644.2  NP_651901.3 
    worm
    (Caenorhabditis elegans)
    Secernentea Y47D7A.141 Protein Y47D7A.14 44.18(n)
    35.89(a)
      178842  NM_071826.3  NP_504227.3 


    ENSEMBL Gene Tree for SLC52A3 (if available)
    TreeFam Gene Tree for SLC52A3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC52A3 gene
    SLC52A22  SLC52A12  
    2 SIMAP similar genes for SLC52A3 using alignment to 2 protein entries:     S52A3_HUMAN (see all proteins):
    SLC52A1    SLC52A2

    SLC52A3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/360 SNPs in SLC52A3 are shown (see all 360)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0636944
    Brown-Vialetto-Van Laere syndrome 1 (BVVLS1)4--see VAR_0636942 E K mis40--------
    VAR_0637004
    Brown-Vialetto-Van Laere syndrome 1 (BVVLS1)4--see VAR_0637002 V A mis40--------
    VAR_0636954
    Brown-Vialetto-Van Laere syndrome 1 (BVVLS1)4--see VAR_0636952 R W mis40--------
    VAR_0637014
    Brown-Vialetto-Van Laere syndrome 1 (BVVLS1)4--see VAR_0637012 F L mis40--------
    VAR_0636964
    Brown-Vialetto-Van Laere syndrome 1 (BVVLS1)4--see VAR_0636962 F L mis40--------
    rs1848222651,2
    --688748(+) GATTGC/TGCCAC 1 -- int10--------
    rs61333711,2
    H--688822(+) ACATCC/TTTAAG 1 -- int14Minor allele frequency- T:0.00NS EA 420
    rs1464392991,2
    --688843(+) TGTTCA/GTTTCT 1 -- int10--------
    rs1900227551,2
    --688984(+) TGGCAC/TGATCT 1 -- int10--------
    rs1430239741,2
    --688985(+) GGCACA/GATCTC 1 -- int10--------

    HapMap Linkage Disequilibrium report for SLC52A3 (740724 - 749228 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SLC52A3: --

    Human Gene Mutation Database (HGMD): SLC52A3
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613350   
    OMIM disorders: 211530  211500  
    UniProtKB/Swiss-Prot: S52A3_HUMAN, Q9NQ40
  • Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]: A rare neurologic disorder characterized by
    sensorineural hearing loss and a variety of cranial nerve palsies, which develop over a relatively short period
    of time in a previously healthy individual. Sensorineural hearing loss may precede the neurological signs. The
    course is invariably progressive, but the rate of decline is variable within and between families. With disease
    evolution, long tract signs, lower motor neuron signs, cerebellar ataxia and lower cranial nerve (III-VI) palsies
    develop, giving rise to a complex picture resembling amyotrophic lateral sclerosis. Diaphragmatic weakness and
    respiratory compromise are some of the most distressing features, leading to recurrent chest infections and
    respiratory failure, which are often the cause of patients' demise. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Fazio-Londe disease (FALOND) [MIM:211500]: A rare neurological disease characterized by progressive
    weakness of the muscles innervated by cranial nerves of the lower brain stem. It may present in childhood with
    severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death, or later
    in life with bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Clinical
    manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue
    and facial muscles. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 18 diseases for SLC52A3:    About MalaCards
    fazio londe syndrome    brown-vialetto-van laere syndrome    dysphagia    neurologic diseases
    cranial nerve palsy    sensorineural hearing loss    respiratory failure    esophageal squamous cell carcinoma
    hypotonia    cerebellar ataxia    lateral sclerosis    amyotrophic lateral sclerosis
    ataxia    esophagitis    squamous cell carcinoma    gastric cancer
    neuronitis    prostatitis


    SLC52A3 for disorders           About GeneDecksing


    Export disorders for SLC52A3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC52A3 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with SLC52A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and functional characterization of rat riboflavin transporter 2. (PubMed id 19122205)1, 2, 3 Yamamoto S....Yuasa H. (2009)
    2. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2, 3 Deloukas P....Rogers J. (2001)
    3. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar pal sy with deafness, is caused by mutations in c20orf54. (PubMed id 20206331)1, 2 Green P....Josifova D.J. (2010)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Functional single nucleotide polymorphism in C20orf54 modifies susceptibility to esophageal squamous cell carcinoma. (PubMed id 22533825)1 Wei W....Wang L.D. (2013)
    7. Differentiation-dependent regulation of intestinal vit amin B(2) uptake: studies utilizing human-derived intestinal epithelial Caco-2 c ells and native rat intestine. (PubMed id 23413253)1 Subramanian V.S....Said H.M. (2013)
    8. Association of the plasma riboflavin levels and ribofl avin transporter (C20orf54) gene statuses in Kazak esophageal squamous cell carc inoma patients. (PubMed id 23275236)1 Ainiwaer J....Sheyhidin I. (2013)
    9. Four novel C20orf54 mutations identified in Brown-Vial etto-Van Laere syndrome patients. (PubMed id 22718020)1 Dezfouli M.A....Elahi E. (2012)
    10. Decreased blood riboflavin levels are correlated with defective expression of RFT2 gene in gastric cancer. (PubMed id 22791947)1 Eli M....Hasim A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 113278 HGNC: 16187 AceView: C20orf54 Ensembl:ENSG00000101276 euGenes: HUgn113278
    ECgene: SLC52A3 Kegg: 113278 H-InvDB: SLC52A3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC52A3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC52A3 gene:
    Search GeneIP for patents involving SLC52A3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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