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SLC19A2 Gene

protein-coding   GIFtS: 67
GCID: GC01M169433

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


(Previous symbol: TRMA)
  See SLC19A2-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 21 2     High Affinity Thiamine Transporter2
TRMA1 2 3 5     Reduced Folate Carrier Protein (RFC) Like2
Solute Carrier Family 19 Member 22 3     thTr-12
TC12 3     Thiamine Transporter 12
THT12 3     ThTr-13
THMD12 5     ThTr13
THTR12 5     Thiamine Carrier 13

External Ids:    HGNC: 109381   Entrez Gene: 105602   Ensembl: ENSG000001174797   OMIM: 6039415   UniProtKB: O607793   

Export aliases for SLC19A2 gene to outside databases

Previous GC identifers: GC01M167061 GC01M165083 GC01M166128 GC01M166619 GC01M166164 GC01M167699 GC01M140656


(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 SLC19A2 Gene:
This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic
anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus,
megaloblastic anemia and sensorineural deafness. (provided by RefSeq, Jul 2008)

GeneCards Summary for SLC19A2 Gene:
SLC19A2 (solute carrier family 19 (thiamine transporter), member 2) is a protein-coding gene. Diseases associated with SLC19A2 include monogenic diabetes, and megaloblastic anemia. GO annotations related to this gene include reduced folate carrier activity and folic acid binding. An important paralog of this gene is SLC19A3.

UniProtKB/Swiss-Prot: S19A2_HUMAN, O60779
Function: High-affinity transporter for the intake of thiamine

Gene Wiki entry for SLC19A2 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_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC19A2 gene promoter:
         HOXA9B   HOXA9   STAT5B   AML1a   Nkx5-1   LCR-F1   PPAR-alpha   Pax-3   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC19A2 promoter sequence
   Search Chromatin IP Primers for SLC19A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC19A2


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

Entrez Gene cytogenetic band: 1q23.3   Ensembl cytogenetic band:  1q24.2   HGNC cytogenetic band: 1q23.3

SLC19A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC19A2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M169433:  view genomic region     (about GC identifiers)

Start:
169,433,147 bp from pter      End:
169,455,241 bp from pter
Size:
22,095 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: S19A2_HUMAN, O60779 (See protein sequence)
Recommended Name: Thiamine transporter 1  
Size: 497 amino acids; 55400 Da
Sequence caution: Sequence=BAG64936.1; Type=Erroneous initiation;
Secondary accessions: B2R9H0 B4E1X4 Q8WV87 Q9UBL7 Q9UKJ2 Q9UN31 Q9UN43
Alternative splicing: 2 isoforms:  O60779-1   O60779-2   

Explore the universe of human proteins at neXtProt for SLC19A2: NX_O60779

Explore proteomics data for SLC19A2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn63, Asn314
  • Modification sites at PhosphoSitePlus

  • See SLC19A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_008927.1  
    ENSEMBL proteins: 
     ENSP00000236137   ENSP00000356778  
    Reactome Protein details: O60779

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    antibodies-online peptides for SLC19A2

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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 1
    SLC19 family of vitamin transporters

    3 InterPro protein domains:
     IPR028338 ThTr-1
     IPR002666 Folate_carrier
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry O60779

    ProtoNet protein and cluster: O60779

    1 Blocks protein domain: IPB002666 Reduced folate carrier

    UniProtKB/Swiss-Prot: S19A2_HUMAN, O60779
    Similarity: Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family


    Find genes that share domains with SLC19A2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: S19A2_HUMAN, O60779
    Function: High-affinity transporter for the intake of thiamine

         Genatlas biochemistry entry for SLC19A2:
    solute carrier family 19, member A2,thiamine transporter,widely expressed,predominantly expressed in skeletal and
    cardiac muscle,homolog to C elegans CF37B4.7,member of folate transporter family

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008517folic acid transporter activity NAS10542220
    GO:0015234thiamine transmembrane transporter activity TAS10542220
    GO:0015403thiamine uptake transmembrane transporter activity ISS--
         
    Find genes that share ontologies with SLC19A2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC19A2:
     Increased G1 DNA content 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc19a2):
     behavior/neurological  digestive/alimentary  endocrine/exocrine gland  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  mortality/aging  nervous system  reproductive system 

    Find genes that share phenotypes with SLC19A2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SLC19A2: Slc19a2tm1Ejn Slc19a2tm1Gelb

       genOway: Develop your customized and physiologically relevant rodent model for SLC19A2

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    miRTarBase miRNAs that target SLC19A2:
    hsa-mir-215-5p (MIRT024357), hsa-mir-26b-5p (MIRT029562), hsa-mir-192-5p (MIRT026524), hsa-mir-98-5p (MIRT027662), hsa-mir-122-5p (MIRT023284)

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    Selected qRT-PCR Assays for microRNAs that regulate SLC19A2 (see all 37):
    hsa-miR-3678-3p hsa-miR-4328 hsa-miR-330-5p hsa-miR-4314 hsa-miR-9 hsa-miR-149 hsa-miR-326 hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidSLC19A2 3' UTR sequence
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    (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
    S19A2_HUMAN, O60779: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    endoplasmic reticulum1

    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 NAS10542220

    Find genes that share ontologies with SLC19A2           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 SLC19A2 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 SLC19A2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for SLC19A2
        Vitamin B1 (thiamin) metabolism


    1 Kegg Pathway  (Kegg details for SLC19A2):
        Vitamin digestion and absorption

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC19A2: 
              Drug Transporters in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC19A2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for SLC19A2 (ENSP000002361374) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TPK1ENSP000003531654STRING: ENSP00000353165
    C1orf146ENSP000003594014STRING: ENSP00000359401
    ENSG00000226916ENSP000004056144STRING: ENSP00000405614
    HORMAD1ENSP000003551674STRING: ENSP00000355167
    MOB3CENSP000002711394STRING: ENSP00000271139
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006810transport ----
    GO:0015884folic acid transport NAS10542220
    GO:0015888thiamine transport NAS10542220

    Find genes that share ontologies with SLC19A2           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
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      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC19A2 (S19A2)

    2 HMDB Compounds for SLC19A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Folic acidAcifolic (see all 37)59-30-3--
    ThiamineAneurin (see all 44)59-43-8--

    1 DrugBank Compound for SLC19A2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ThiamineThiadoxine (see all 5)59-43-8targetbinder16642288 10391223 10391222 10391221

    1 IUPHAR Ligand for SLC19A2 (Thiamine transporter 1)    About this table
    LigandTypeActionAffinityPubmed IDs
    [3H]thiamine
    NoneNone10542220

    4 Novoseek inferred chemical compound relationships for SLC19A2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thiamine 93 113 11592824 (4), 14567973 (4), 16206251 (3), 11997118 (3) (see all 44)
    folate 52.3 11 10391223 (1), 12227830 (1), 12435857 (1), 11136550 (1) (see all 6)
    methotrexate 31.6 2 14622275 (1)
    glucose 0 1 11592824 (1)



    Find genes that share compounds with SLC19A2           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 SLC19A2 gene: 
    NM_006996.2  

    Unigene Cluster for SLC19A2:

    Solute carrier family 19 (thiamine transporter), member 2
    Hs.30246  [show with all ESTs]
    Unigene Representative Sequence: AJ237724
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000236137(uc001gge.4) ENST00000367804(uc001ggf.4)
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    Additional mRNA sequence: 

    AF135488.1 AF153330.1 AF160812.1 AF272359.1 AJ237724.1 AK304021.1 AK313779.1 AK316465.1 
    BC018514.1 

    6 DOTS entries:

    DT.75102771  DT.100816521  DT.95070856  DT.95096676  DT.100816518  DT.447700 

    Selected AceView cDNA sequences (see all 109):

    BQ025468 BI600188 BE502810 AF135488 AI745240 N41371 AJ237724 AI632864 
    AA935656 BU608484 BI522610 AI090181 BQ773736 AI446828 AI891133 BC018514 
    AI521158 CN478928 AI765959 AI269919 AF272359 AI394129 NM_006996 AW152513 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SLC19A2    About this scheme

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


    ECgene alternative splicing isoforms for SLC19A2

    (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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    SLC19A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTACCAAAGC
    SLC19A2 Expression
    About this image


    SLC19A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Liver (Hepatobiliary System)
             Perivenous Hepatocytes Liver Lobule
     
     Pancreas (Endocrine System)
    SLC19A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC19A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.30246

    UniProtKB/Swiss-Prot: S19A2_HUMAN, O60779
    Tissue specificity: Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta,
    heart, liver and kidney, low in lung

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC19A2: 
              Drug Transporters in human mouse rat

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

    Orthologs for SLC19A2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc19a21 , 5 solute carrier family 19 (thiamine transporter), member 2 less1, 5 85.24(n)1
    89.74(a)1
      1 (71.56 cM)5
    1169141  NM_054087.31  NP_473428.11 
     1642490465 
    chicken
    (Gallus gallus)
    Aves SLC19A21 solute carrier family 19 (thiamine transporter), member 2 less 71.49(n)
    76.67(a)
      427957  XM_425529.3  XP_425529.2 
    lizard
    (Anolis carolinensis)
    Reptilia SLC19A26
    solute carrier family 19 (thiamine transporter), m...
    73(a)
    1 ↔ 1
    3(175681573-175699943)
    African clawed frog
    (Xenopus laevis)
    Amphibia CD302369.12   -- 73.28(n)    CD302369.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc19a21 solute carrier family 19 (thiamine transporter), member 2 less 64.01(n)
    62.41(a)
      569085  XM_005168735.1  XP_005168792.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG170361 , 3 reduced folate carrier3
    CG170361
    35(a)
    (best of 3)3
    49.52(n)1
    38.22(a)1
      33F33
    346791  NM_135740.21  NP_609584.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C06H2.43
    folt-11
    folate transporter protein3
    folt-11
    33(a)
    (best of 2)3
    48.33(n)1
    39.77(a)1
      V(11144094-11145462)3
    1795441  NM_073432.31  NP_505833.31 


    ENSEMBL Gene Tree for SLC19A2 (if available)
    TreeFam Gene Tree for SLC19A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC19A2 gene
    SLC19A32  SLC19A12  
    2 SIMAP similar genes for SLC19A2 using alignment to 5 protein entries:     S19A2_HUMAN (see all proteins):
    SLC19A3    SLC19A1

    Find genes that share paralogs with SLC19A2           About GenesLikeMe



    (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 SLC19A2 (see all 389)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289375951,2,,4
    CThiamine-responsive megaloblastic anemia syndrome (TRMA)4 pathogenic1175999053(-) AGTGGA/GCTCTG 2 D G mis1 ese30--------
    VAR_0102504
    Thiamine-responsive megaloblastic anemia syndrome (TRMA)4--see VAR_0102502 S F mis40--------
    VAR_0102494
    Thiamine-responsive megaloblastic anemia syndrome (TRMA)4--see VAR_0102492 D H mis40--------
    rs743153751,2
    Cpathogenic1175990401(-) TCCTGA/GTCAAC 2 * W stg10--------
    rs743153741,2
    Cpathogenic1175998818(-) GGCTGA/GGAGGA 2 * W stg10--------
    rs743153731,2
    Cpathogenic1175999084(-) ACTGTC/TGAAGT 2 R * stg10--------
    rs2011427951,2
    C--169432839(+) TTTTT-/TAAGGA 1 -- ds50010--------
    rs712994821,2
    C--169432917(-) CACTG-/TT/TTT
            
    TTTTT
    2 -- ds5001 cds11NA 2
    rs711217831,2
    C--169436728(-) GAATG-/AATCA 
            
    AGAAG
    1 -- int11Minor allele frequency- AATCA:0.00NA 2
    rs358832811,2
    C--169439791(+) AGCAA-/CCCTAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for SLC19A2 (169433147 - 169455241 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SLC19A2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2719384CNV Deletion23290073
    esv268075CNV Insertion20981092
    nsv831871CNV Loss17160897
    esv22143CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): SLC19A2
    Locus Specific Mutation Databases (LSDB): SLC19A2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC19A2
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC19A2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603941   
    OMIM disorders: 249270  
    UniProtKB/Swiss-Prot: S19A2_HUMAN, O60779
  • Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]: An autosomal recessive disease
    characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between
    infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and
    sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy,
    congenital heart defects, short stature, and stroke. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 7 diseases for SLC19A2:    
    About MalaCards
    monogenic diabetes    megaloblastic anemia    thiamine-responsive megaloblastic anemia syndrome    basal ganglia disease
    biotin-responsive basal ganglia disease    aspartylglucosaminuria    diabetes mellitus

    3 diseases from the University of Copenhagen DISEASES database for SLC19A2:
    Megaloblastic anemia     Sensorineural hearing loss     biotin-responsive basal ganglia disease

    Find genes that share disorders with SLC19A2           About GenesLikeMe

    6 Novoseek inferred disease relationships for SLC19A2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thiamine-responsive megaloblastic anemia syndrome 98.7 9 12435857 (2), 14994241 (1), 18614593 (1), 10074490 (1) (see all 6)
    anemia megaloblastic 95.4 14 11286512 (1), 11380424 (1), 10978358 (1), 17463047 (1) (see all 10)
    deafness sensorineural 87.4 3 9856490 (1), 17132746 (1), 19879271 (1)
    diabetes mellitus 60 9 11286512 (1), 9856490 (1), 16373304 (1), 18614593 (1) (see all 7)
    anemia 37.2 3 9856490 (1), 16373304 (1), 17132746 (1)
    tumors 5.27 1 12861052 (1)

    GeneTests: SLC19A2
    GeneReviews: SLC19A2
    Genetic Association Database (GAD): SLC19A2
    Human Genome Epidemiology (HuGE) Navigator: SLC19A2 (6 documents)

    Export disorders for SLC19A2 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 SLC19A2 gene, integrated from 10 sources (see all 84):
    (articles sorted by number of sources associating them with SLC19A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. (PubMed id 10391221)1, 2, 3, 7, 9 Labay V.... Cohen N. (Nat. Genet. 1999)
    2. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. (PubMed id 10391223)1, 2, 7, 9 Diaz G.A.... Gelb B.D. (Nat. Genet. 1999)
    3. The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. (PubMed id 10391222)1, 2, 7 Fleming J.C.... Neufeld E.J. (Nat. Genet. 1999)
    4. Analysis of slc19a2, on 1q23.3 encoding a thiamine transporter as a candidate gene for type 2 diabetes mellitus in pima indians. (PubMed id 11286512)1, 4, 9 Thameem F....Prochazka M. (Mol. Genet. Metab. 2001)
    5. The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families. (PubMed id 10874303)1, 2, 9 Raz T.... Cohen N. (Hum. Mutat. 2000)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)1, 4 Ehret G.B....Chakravarti A. (Eur. J. Hum. Genet. 2009)
    8. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PubMed id 19064610)1, 4 Cheung C.L....Kung A.W. (Hum. Mol. Genet. 2009)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    10. Cloning of the human thiamine transporter, a member of the folate transporter family. (PubMed id 10542220)1, 2 Dutta B.... Prasad P.D. (J. Biol. Chem. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 10560 HGNC: 10938 AceView: SLC19A2 Ensembl:ENSG00000117479 euGenes: HUgn10560
    ECgene: SLC19A2 Kegg: 10560 H-InvDB: SLC19A2

    (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 SLC19A2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC19A2[genesymbol]

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC19A2 gene:
    Search GeneIP for patents involving SLC19A2

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



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