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SLC19A3 Gene

protein-coding   GIFtS: 60
GCID: GC02M228513

Solute Carrier Family 19 (Thiamine Transporter), Member...

(Previous names: solute carrier family 19, member 3)
  See SLC19A3-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)
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Aliases
Solute Carrier Family 19 (Thiamine Transporter), Member 31 2     THTR22
Solute Carrier Family 19, Member 31 2     thTr-22
Thiamine Transporter 21 2     ThTr-23
BBGD2 5     ThTr23
THMD22 5     Solute Carrier Family 19 Member 33

External Ids:    HGNC: 162661   Entrez Gene: 807042   Ensembl: ENSG000001359177   OMIM: 6061525   UniProtKB: Q9BZV23   

Export aliases for SLC19A3 gene to outside databases

Previous GC identifers: GC02M226571 GC02M227281 GC02M228752 GC02M228375 GC02M228258 GC02M220392


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC19A3 Gene:
This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport
activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder
manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if
untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen.
Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms
while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of
thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can
transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.(provided by RefSeq, Jan
2010)

GeneCards Summary for SLC19A3 Gene:
SLC19A3 (solute carrier family 19 (thiamine transporter), member 3) is a protein-coding gene. Diseases associated with SLC19A3 include basal ganglia disease, and biotin-responsive basal ganglia disease. GO annotations related to this gene include folic acid binding and thiamine uptake transmembrane transporter activity. An important paralog of this gene is SLC19A1.

UniProtKB/Swiss-Prot: S19A3_HUMAN, Q9BZV2
Function: Mediates high affinity thiamine uptake, propably via a proton anti-port mechanism. Has no folate
transport activity

Gene Wiki entry for SLC19A3 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC19A3 gene promoter:
         FOXD3   CUTL1   HNF-3beta   NF-kappaB   NF-AT   E47   C/EBPalpha   NF-kappaB2   Hand1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC19A3 promoter sequence
   Search Chromatin IP Primers for SLC19A3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC19A3


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

Entrez Gene cytogenetic band: 2q37   Ensembl cytogenetic band:  2q36.3   HGNC cytogenetic band: 2q37

SLC19A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC19A3 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M228513:  view genomic region     (about GC identifiers)

Start:
228,549,926 bp from pter      End:
228,582,745 bp from pter
Size:
32,820 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: S19A3_HUMAN, Q9BZV2 (See protein sequence)
Recommended Name: Thiamine transporter 2  
Size: 496 amino acids; 55665 Da

Explore the universe of human proteins at neXtProt for SLC19A3: NX_Q9BZV2

Explore proteomics data for SLC19A3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn45, Asn166
  • Modification sites at PhosphoSitePlus

  • See SLC19A3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079519.1  
    ENSEMBL proteins: 
     ENSP00000397393   ENSP00000386298   ENSP00000258403   ENSP00000399001   ENSP00000400627  
     ENSP00000398349   ENSP00000387193   ENSP00000445519  
    Reactome Protein details: Q9BZV2

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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Thiamine transporter 2
    SLC19 family of vitamin transporters

    3 InterPro protein domains:
     IPR002666 Folate_carrier
     IPR028337 ThTr-2
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q9BZV2

    ProtoNet protein and cluster: Q9BZV2

    1 Blocks protein domain: IPB002666 Reduced folate carrier

    UniProtKB/Swiss-Prot: S19A3_HUMAN, Q9BZV2
    Similarity: Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family


    Find genes that share domains with SLC19A3           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S19A3_HUMAN, Q9BZV2
    Function: Mediates high affinity thiamine uptake, propably via a proton anti-port mechanism. Has no folate
    transport activity

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015403thiamine uptake transmembrane transporter activity ISS--
         
    Find genes that share ontologies with SLC19A3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC19A3:
     Increased S DNA content 

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc19a3):
     behavior/neurological  digestive/alimentary  growth/size/body  homeostasis/metabolism  immune system 
     liver/biliary system  mortality/aging  renal/urinary system 

    Find genes that share phenotypes with SLC19A3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc19a3tm1Said for SLC19A3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC19A3
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    miRNA
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    miRTarBase miRNAs that target SLC19A3:
    hsa-mir-98-5p (MIRT027742)

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    4 qRT-PCR Assays for microRNAs that regulate SLC19A3:
    hsa-miR-4310 hsa-miR-3613-3p hsa-miR-630 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidSLC19A3 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC19A3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S19A3_HUMAN, Q9BZV2: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane NAS11136550

    Find genes that share ontologies with SLC19A3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC19A3 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    2Metabolism
    Metabolism0.38
    3Vitamin digestion and absorption
    Vitamin digestion and absorption
    4Disease
    Disease


    Find genes that share SuperPaths with SLC19A3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC19A3
        Vitamin B1 (thiamin) metabolism


    1 Kegg Pathway  (Kegg details for SLC19A3):
        Vitamin digestion and absorption

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC19A3: 
              Drug Transporters in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC19A3

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for SLC19A3 (Q9BZV23 ENSP000002584034) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CREB3O438893I2D: score=1 
    TPK1ENSP000003531654STRING: ENSP00000353165
    C3orf38ENSP000003224694STRING: ENSP00000322469
    CREB3L4ENSP000002718894STRING: ENSP00000271889
    TAB2ENSP000002863324STRING: ENSP00000286332
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006810transport ----
    GO:0015888thiamine transport ----
    GO:0042723thiamine-containing compound metabolic process TAS--

    Find genes that share ontologies with SLC19A3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC19A3 (S19A3)

    1 DrugBank Compound for SLC19A3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Cysteine(R)-2-Amino-3-mercaptopropanoic acid (see all 13)52-90-4target--17139284 17016423

    1 IUPHAR Ligand for SLC19A3 (Thiamine transporter 2)    About this table
    LigandTypeActionAffinityPubmed IDs
    [3H]thiamine
    NoneNone11731220

    1 Novoseek inferred chemical compound relationship for SLC19A3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thiamine 82.9 17 16206251 (3), 16055442 (3), 12861052 (1), 12488043 (1) (see all 8)



    Find genes that share compounds with SLC19A3           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC19A3 gene: 
    NM_025243.3  

    Unigene Cluster for SLC19A3:

    Solute carrier family 19, member 3
    Hs.221597  [show with all ESTs]
    Unigene Representative Sequence: NM_025243
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000425817(uc002vpi.3 uc002vpj.3) ENST00000409287 ENST00000258403(uc010zlv.1)
    ENST00000456524 ENST00000431622 ENST00000419059 ENST00000409456 ENST00000477697
    ENST00000541617
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    hsa-miR-4310 hsa-miR-3613-3p hsa-miR-630 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidSLC19A3 3' UTR sequence
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    Additional mRNA sequence: 

    AF271633.1 AK301490.1 AK312464.1 BC032014.1 

    6 DOTS entries:

    DT.426047  DT.430182  DT.105803  DT.40129849  DT.91673514  DT.97795633 

    Selected AceView cDNA sequences (see all 52):

    BG743421 BQ716625 CR609013 AF271633 CR595614 AA570151 BC032014 BM924450 
    BM992423 CB988123 BI821647 BQ024717 NM_025243 CA407103 H49809 CF529586 
    BV205778 AA777563 AI056985 BX399578 AI033542 BP381947 BX337359 BX327338 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC19A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC19A3 Expression
    About this image


    SLC19A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Adipose (Muscoskeletal System)
     
     Kidney (Urinary System)
    SLC19A3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC19A3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.221597

    UniProtKB/Swiss-Prot: S19A3_HUMAN, Q9BZV2
    Tissue specificity: Widely expressed but most abundant in placenta, kidney and liver

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC19A3: 
              Drug Transporters in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC19A3

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SLC19A3 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc19a31 , 5 solute carrier family 19, member 31, 5 75.36(n)1
    69.98(a)1
      1 (42.65 cM)5
    807211  NM_030556.21  NP_085033.21 
     830125235 
    chicken
    (Gallus gallus)
    Aves SLC19A31 solute carrier family 19, member 3 64.55(n)
    62.37(a)
      424792  XM_004937062.1  XP_004937119.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC19A36
    solute carrier family 19 (thiamine transporter), m...
    61(a)
    1 ↔ 1
    3(23329287-23360197)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC528722 similar to solute carrier family 19, member 3 75.02(n)    BC043746.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5578541 thiamine transporter 2-like 55.23(n)
    48.02(a)
      557854  XM_680999.5  XP_686091.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG170363
    CG65741
    reduced folate carrier3
    CG65741
    36(a)
    (best of 3)3
    49.31(n)1
    36.87(a)1
      33F33
    413081  NM_141772.31  NP_650029.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F37B4.73 folate transporter 32(a)
    (best of 2)
      V(2872542-2875305)   --


    ENSEMBL Gene Tree for SLC19A3 (if available)
    TreeFam Gene Tree for SLC19A3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC19A3 gene
    SLC19A12  SLC19A22  
    2 SIMAP similar genes for SLC19A3 using alignment to 7 protein entries:     S19A3_HUMAN (see all proteins):
    SLC19A2    SLC19A1

    Find genes that share paralogs with SLC19A3           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for SLC19A3
    PGOHUM00000240541 PGOHUM00000243684 PGOHUM00000233238


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC19A3 (see all 961)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0259924
    Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2)4--see VAR_0259922 G V mis40--------
    VAR_0259934
    Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2)4--see VAR_0259932 T A mis40--------
    rs1219178841,2
    Cpathogenic1227924123(-) TCATGA/GCTGTG 2 T A mis10--------
    rs1219178821,2
    Cpathogenic1227938155(-) ATTTGG/TTTTTT 2 G V mis10--------
    rs1900114141,2
    --227920660(+) CGAGAC/TGGGCG 1 -- ds50010--------
    rs1123349291,2
    C,F--227920664(+) ACGGGC/TGGATC 1 -- ds50012Minor allele frequency- T:0.03CSA NA 121
    rs1928609441,2
    --227920679(+) GAGACC/TAGGAG 1 -- ds50010--------
    rs1134999551,2
    C--227920758(+) GGTGGC/TGCACG 1 -- ds50011Minor allele frequency- T:0.00CSA 1
    rs355555551,2
    C,F--227920762(+) GTGCAT/CGCCTG 1 -- ds50014Minor allele frequency- C:0.25NA 8
    rs1848466801,2
    --227920806(+) AATTGC/TTTGAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SLC19A3 (228549926 - 228582745 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SLC19A3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721563CNV Deletion23290073
    nsv10221CNV Loss18304495
    nsv834561CNV Gain17160897
    nsv520733CNV Gain19592680

    Human Gene Mutation Database (HGMD): SLC19A3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC19A3
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC19A3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606152   
    OMIM disorders: 607483  
    UniProtKB/Swiss-Prot: S19A3_HUMAN, Q9BZV2
  • Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2) [MIM:607483]: An
    autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile
    illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If
    untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral
    lesions of the basal ganglia. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 8 diseases for SLC19A3:    
    About MalaCards
    basal ganglia disease    biotin-responsive basal ganglia disease    leigh syndrome with leukodystrophy    infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
    biotin-thiamine-responsive basal ganglia disease    biotin deficiency    generalized dystonia    megaloblastic anemia

    3 diseases from the University of Copenhagen DISEASES database for SLC19A3:
    biotin-responsive basal ganglia disease     Megaloblastic anemia     Leigh disease

    Find genes that share disorders with SLC19A3           About GenesLikeMe

    Genetic Association Database (GAD): SLC19A3

    Export disorders for SLC19A3 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)
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    PubMed articles for SLC19A3 gene, integrated from 10 sources (see all 37):
    (articles sorted by number of sources associating them with SLC19A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes. (PubMed id 11136550)1, 2, 3, 9 Eudy J.D....Finnell R.H. (Mol. Genet. Metab. 2000)
    2. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. (PubMed id 15871139)1, 2, 3 Zeng W.-Q.... Gusella J.F. (Am. J. Hum. Genet. 2005)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    4. SLC19: the folate/thiamine transporter family. (PubMed id 14770311)1, 2 Ganapathy V.... Prasad P.D. (Pflugers Arch. 2004)
    5. 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. (Genome Res. 2004)
    6. SLC19A3 encodes a second thiamine transporter ThTr2. (PubMed id 11731220)1, 2 Rajgopal A.... Zhao R. (Biochim. Biophys. Acta 2001)
    7. Characterization of the 5'-regulatory region of the human thiamin transporter SLC19A3: in vitro and in vivo studies. (PubMed id 15217784)1, 9 Nabokina S.M. and Said H.M. (Am. J. Physiol. Gastrointest. Liver Physiol. 2004)
    8. Differentiation-dependent up-regulation of intestinal thiamin uptake: cellular and molecular mechanisms. (PubMed id 16055442)1, 9 Nabokina S.M....Said H.M. (J. Biol. Chem. 2005)
    9. Biotin deficiency reduces expression of SLC19A3, a potential biotin transporter, in leukocytes from human blood. (PubMed id 15623830)1, 9 Vlasova T.I....Mock D.M. (J. Nutr. 2005)
    10. Down-regulation of thiamine transporter THTR2 gene expression in breast cancer and its association with resistance to apoptosis. (PubMed id 12861052)1, 9 Liu S....Moscow J.A. (Mol. Cancer Res. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 80704 HGNC: 16266 AceView: SLC19A3 Ensembl:ENSG00000135917 euGenes: HUgn80704
    ECgene: SLC19A3 Kegg: 80704 H-InvDB: SLC19A3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC19A3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC19A3 gene:
    Search GeneIP for patents involving SLC19A3

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



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