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

SLC19A2 Gene

protein-coding   GIFtS: 66
GCID: GC01M169433

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


(Previous symbol: TRMA)
  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 19 (Thiamine Transporter), Member 21 2     High Affinity Thiamine Transporter2
TRMA1 2 3     Reduced Folate Carrier Protein (RFC) Like2
Solute Carrier Family 19 Member 22 3     thTr-12
TC12 3     Thiamine Transporter 12
THT12 3     ThTr-13
THTR12 5     ThTr13
THMD12     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 megaloblastic anemia, and thiamine-responsive megaloblastic anemia 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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SLC19A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: S19A2_HUMAN, O60779 (See protein sequence)
Recommended Name: Thiamine transporter 1  
Size: 497 amino acids; 55400 Da
Subcellular location: Membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60779

  • SLC19A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC19A2 Protein Expression
    REFSEQ proteins: NP_008927.1  
    ENSEMBL proteins: 
     ENSP00000356776   ENSP00000236137   ENSP00000356778  
    Reactome Protein details: O60779
    Human Recombinant Protein Products for SLC19A2: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral to membrane NAS10542220

    SLC19A2 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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Thiamine transporter 1 
    SLC19 family of vitamin transporters

    2 InterPro protein domains:
     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


    SLC19A2 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: 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): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005542folic acid binding IEA--
    GO:0008517folic acid transporter activity NAS10542220
    GO:0008518reduced folate carrier activity IEA--
    GO:0015234thiamine transmembrane transporter activity TAS10542220
    GO:0015403thiamine uptake transmembrane transporter activity ISS--
         
    SLC19A2 for ontologies           About GeneDecksing


    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 

    SLC19A2 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC19A2 
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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 SLC19A2 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 B1 (thiamin) metabolism
    Vitamin B1 (thiamin) metabolism0.33
    4Vitamin digestion and absorption
    Vitamin digestion and absorption

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for SLC19A2
        Vitamin B1 (thiamin) metabolism
    Metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors


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


    SLC19A2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC19A2

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

    5/10 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): 5/9 biological process terms (GO ID links to tree view) (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

    SLC19A2 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

    SLC19A2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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)

    Search CenterWatch for drugs/clinical trials and news about SLC19A2 / S19A2

    (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 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
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367802 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 

    24/109 AceView cDNA sequences (see all 109):

    AI269919 AF135488 AI051038 AF153330 AI446828 AJ237724 AI745240 NM_006996 
    AF160812 AF272359 AI090181 N41383 AA935656 BU608484 AW152513 BQ773736 
    AI394129 BX506945 AI632864 BI522610 AI521158 CN478928 BI600188 N41371 

    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™, 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

    SLC19A2 expression in normal human tissues (normalized intensities)      SLC19A2 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Adrenal Gland (Endocrine System)
             Adrenal Cortex   
     
     Liver (Hepatobiliary System)
             Perivenous Hepatocytes Liver Lobule
     
     Pancreas (Endocrine System)

    See SLC19A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC19A2

    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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SLC19A2 gene from 7/13 species (see all 13)    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 85.92(n)1
    90.54(a)1
      1 (71.56 cM)5
    1169141  NM_054087.21  NP_473428.11 
     1642490465 
    chicken
    (Gallus gallus)
    Aves SLC19A21 solute carrier family 19 (thiamine transporter), member 2 less 72.01(n)
    77.14(a)
      427957  XM_425529.2  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 LOC5690851 thiamine transporter 1-like 63.42(n)
    61.68(a)
      569085  XM_692449.4  XP_697541.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG170363 reduced folate carrier 35(a)
    (best of 3)
      33F3   --
    worm
    (Caenorhabditis elegans)
    Secernentea C06H2.43
    folt-11
    folate transporter protein3
    Protein FOLT-11
    33(a)
    (best of 2)3
    48.02(n)1
    40(a)1
      V(11144094-11145462)3
    1795441  NM_073432.21  NP_505833.21 


    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)
    About This Section
    Paralogs for SLC19A2 gene
    SLC19A32  SLC19A12  
    2 SIMAP similar genes for SLC19A2 using alignment to 6 protein entries:     S19A2_HUMAN (see all proteins):
    SLC19A3    SLC19A1

    SLC19A2 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

    10/389 SNPs in SLC19A2 are shown (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
    ----------
    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--------
    rs289375951,2,4
    CThiamine-responsive megaloblastic anemia syndrome (TRMA)4 pathogenic1175999053(-) AGTGGA/GCTCTG 2 D G mis1 ese30--------
    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/28 diseases for SLC19A2 (see all 28):    About MalaCards
    megaloblastic anemia    thiamine-responsive megaloblastic anemia syndrome    wernicke-korsakoff syndrome    biotin-responsive basal ganglia disease
    basal ganglia disease    pearson syndrome    monogenic diabetes    x-linked sideroblastic anemia
    autosomal recessive disease    anemia    diabetes mellitus    cone-rod dystrophy
    neural tube defects    sensorineural hearing loss    male infertility    infertility
    essential hypertension    thrombocytopenia    acute lymphoblastic leukemia    lymphoblastic leukemia

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

    SLC19A2 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for SLC19A2 gene, integrated from 9 sources (see all 81):
    (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. (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. (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. (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. (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. (2000)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    7. Follow-up of a major linkage peak on chromosome 1 rev eals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)1, 4 Ehret G.B....Chakravarti A. (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. (2009)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (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. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10560 HGNC: 10938 AceView: SLC19A2 Ensembl:ENSG00000117479 euGenes: HUgn10560
    ECgene: SLC19A2 Kegg: 10560 H-InvDB: SLC19A2

    (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 SLC19A2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC19A2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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