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

SLC19A2 Gene

protein-coding   GIFtS: 65
GCID: GC01M169433

solute carrier family 19 (thiamine transporter), member...


(Previous symbol: TRMA)
 Explore 24 diseases affiliated with
SLC19A2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC19A2    

Aliases
for SLC19A2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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
THTR11 2 5     ThTr-13
Solute Carrier Family 19 Member 22 3     Thiamine Transporter 12
TC12 3     ThTr-13
THT12 3     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


Summaries
for SLC19A2 gene

(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:
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)

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

Gene Wiki entry for SLC19A2


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
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 plasmid: SLC19A2 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

Proteins
for SLC19A2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O60779

    • SLC19A2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_008927.1  
    ENSEMBL proteins: 
     ENSP00000236137   ENSP00000356778   ENSP00000356776  
    Reactome Protein details: O60779
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    Uscn Proteins for SLC19A2

    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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    Protein Domains /
    Families
    for SLC19A2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC19A2 for domains           About GeneDecksing

    2 InterPro domains/families:
     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 family: IPB002666 Reduced folate carrier

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


    Function
    for SLC19A2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    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 plasmid: SLC19A2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    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


    1 GenomeRNAi human phenotype for SLC19A2:
     Increased G1 DNA content 

    Animal Models:
         Mouse knock-outs for SLC19A2: Slc19a2tm1Ejn Slc19a2tm1Gelb
         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


    Pathways & Interactions
    for SLC19A2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Vitamin B5 (pantothenate) metabolism
    		Metabolism of vitamins and cofactors0.21
    		Metabolism of water-soluble vitamins and cofactors0.21
    2Vitamin B1 (thiamin) metabolism
    		Vitamin B1 (thiamin) metabolism1.00
    3Vitamin digestion and absorption
    		Vitamin digestion and absorption1.00
    4Metabolism
    		Metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    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
    HORMAD1ENSP000003551674STRING: ENSP00000355167
    MOB3CENSP000002711394STRING: ENSP00000271139
    ZMYM6ENSP000003497084STRING: ENSP00000349708
    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:0015884folic acid transport NAS10542220
    GO:0015888thiamine transport NAS10542220
    GO:0042723thiamine-containing compound metabolic process TAS--


    SLC19A2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC19A2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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

    4 Novoseek 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 

    Transcripts
    for SLC19A2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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:
    ENST00000236137(uc001gge.4) ENST00000367804(uc001ggf.4) ENST00000367802


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    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
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    Inhib. RNA
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    Additional cDNA 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 BI522610 AJ237724 BU608484 AI745240 AA935656 BI600188 NM_006996 
    AF272359 AI632864 AI090181 BX506945 BQ773736 CN478928 BQ025468 AF135488 
    AI521158 AI446828 AI394129 N41383 AI051038 AF153330 BE502810 AF160812 

    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

    Expression
    for SLC19A2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTACCAAAGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC19A2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobulePerivenous HepatocytesLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    for SLC19A2 gene

    (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 7/20 species (see all 20)    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
    		 --
    		 72(a)
    		 1 ↔ 1
    		 3(175684209-175699495)
    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
    for SLC19A2 gene

    (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



    Genomic Variants
    for SLC19A2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/394 NCBI SNPs in SLC19A2 are shown (see all 394)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs743153751,2
    		Cpathogenic169438031(-) TCCTGA/GTCAAC 2 * W stg10--------
    rs743153741,2
    		Cpathogenic169446450(-) GGCTGA/GGAGGA 2 * W stg10--------
    rs289375951,2
    		Cpathogenic169446685(-) AGTGGG/ACTCTG 2 /D /G mis1 ese32Minor allele frequency- A:0.00NA 4
    rs743153731,2
    		Cpathogenic169446716(-) ACTGTC/TGAAGT 2 R * stg10--------
    rs741216761,2
    		C,--140677211(+) TCCCTG/AGAGGT 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs20727571,2
    		C,F,H,--140678033(-) GCGCCC/TCGGAT 1 -- us2k1 ese313Minor allele frequency- T:0.19EA NS NA WA CSA 631
    rs725424431,2
    		C,--140678224(+) CTGATC/GGCCCA 1 -- us2k11Minor allele frequency- G:0.00--534
    rs725424441,2
    		F--140678225(+) TGATCG/TCCCAG 1 -- us2k11Minor allele frequency- T:0.00--534
    rs725424461,2
    		C,--140678601(+) GTCTCC/TGGAAT 1 -- nc-transcript-variant2Minor allele frequency- T:0.01CSA 536
    rs727060851,2
    		C,F,--140678728(+) TCATCC/TGCCAT 1 -- nc-transcript-variant1Minor allele frequency- T:0.02NA 120

    HapMap Linkage Disequilibrium report for SLC19A2 (169433147 - 169455241 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SLC19A2
         1 CNV: 65206
    Human Gene Mutation Database (HGMD): SLC19A2

    Locus Specific Mutation Databases (LSDB): SLC19A2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC19A2
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC19A2

    Disorders / Diseases
    for SLC19A2 gene

    (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.)
    About This Section
    SLC19A2 for disorders           About GeneDecksing

    OMIM gene information: 603941   
    OMIM disorders: 249270  
    UniProtKB/Swiss-Prot: S19A2_HUMAN, O60779
  • Defects in SLC19A2 are the cause of thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270];
    • also known as Rogers syndrome. TRMA is an autosomal recessive disease with features that include megaloblastic anemia,
    mild thrombocytopenia and leucopenia, sensorineural deafness and diabetes mellitus

    20/24 diseases for SLC19A2 (see all 24):    About MalaCards
    thiamine-responsive megaloblastic anemia syndrome    megaloblastic anemia    diabetes mellitus    biotin-responsive basal ganglia disease
    anemia    wernicke-korsakoff syndrome    cone-rod dystrophy    basal ganglia disease
    neural tube defect    type 2 diabetes mellitus    autosomal recessive disease    pearson syndrome
    male infertility    acute lymphoblastic leukemia    lymphoblastic leukemia    essential hypertension
    infertility    hypertension    t-cell leukemia    leukemia

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

    6 Novoseek 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
    Thiamine-Responsive Megaloblastic Anemia Syndrome

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

    Export disorders for SLC19A2 gene to outside databases

    Publications
    for SLC19A2 gene

    (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 75):
    (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, 9 Labay V.... Cohen N. (1999)
    2. 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)
    3. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. (PubMed id 10391223)1, 2, 9 Diaz G.A.... Gelb B.D. (1999)
    4. 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)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    6. The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. (PubMed id 10391222)1, 2 Fleming J.C.... Neufeld E.J. (1999)
    7. Cloning of the human thiamine transporter, a member of the folate transporter family. (PubMed id 10542220)1, 2 Dutta B.... Prasad P.D. (1999)
    8. Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. (PubMed id 9399900)1, 3 Neufeld E.J....Cohen N. (1997)
    9. In vitro and in vivo characterization of the minimal promoter region of the human thiamin transporter SLC19A2. (PubMed id 12900388)1, 9 Reidling J.C. and Said H.M. (2003)
    10. Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome. (PubMed id 14994241)1, 9 Lagarde W.H.... Calikoglu A.S. (2004)

    External Searches for SLC19A2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing SLC19A2 gene

    (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

    Other Databases showing SLC19A2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC19A2 gene

    (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

    Intellectual Property
    for SLC19A2 gene

    (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

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