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SLC25A19 Gene

protein-coding   GIFtS: 58
GCID: GC17M073266

Solute Carrier Family 25 (Mitochondrial Thiamine Pyrophosphate...

(Previous names: solute carrier family 25 (mitochondrial deoxynucleotide...)
(Previous symbol: MCPHA)
  See SLC25A19-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 25 (Mitochondrial Thiamine Pyrophosphate
Carrier), Member 191 2
     Mitochondrial Uncoupling Protein 12 3
MCPHA1 2 5     THMD32 5
DNC2 3 5     THMD42 5
MUP12 3 5     TPC2
Microcephaly, Amish1 2     Mitochondrial Thiamine Pyrophosphate Carrier2
Solute Carrier Family 25 (Mitochondrial Deoxynucleotide Carrier), Member
191 2
     Solute Carrier Family 25 Member 193

External Ids:    HGNC: 144091   Entrez Gene: 603862   Ensembl: ENSG000001254547   OMIM: 6065215   UniProtKB: Q9HC213   

Export aliases for SLC25A19 gene to outside databases

Previous GC identifers: GC17M076328 GC17M073733 GC17M073866 GC17M070780 GC17M068679


(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 SLC25A19 Gene:
This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was
initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into
the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the
mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria.
Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital
microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced
variants, encoding the same protein, have been identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for SLC25A19 Gene:
SLC25A19 (solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19) is a protein-coding gene. Diseases associated with SLC25A19 include thiamine metabolism dysfunction syndrome 4, and detrusor sphincter dyssynergia. GO annotations related to this gene include deoxynucleotide transmembrane transporter activity.

UniProtKB/Swiss-Prot: TPC_HUMAN, Q9HC21
Function: Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria

Gene Wiki entry for SLC25A19 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_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC25A19 gene promoter:
         ER-alpha   STAT1   STAT1beta   NF-kappaB   STAT1alpha   IRF-2   NF-kappaB2   STAT2   STAT3   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC25A19 promoter sequence
   Search Chromatin IP Primers for SLC25A19

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC25A19


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

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.1

SLC25A19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A19 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M073266:  view genomic region     (about GC identifiers)

Start:
73,269,061 bp from pter      End:
73,285,591 bp from pter
Size:
16,531 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: TPC_HUMAN, Q9HC21 (See protein sequence)
Recommended Name: Mitochondrial thiamine pyrophosphate carrier  
Size: 320 amino acids; 35511 Da
Miscellaneous: The transmembrane helices are not perpendicular to the plane of the membrane, but cross the
membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved
proline residue (By similarity)
Secondary accessions: E9PF74 Q6V9R7
Alternative splicing: 2 isoforms:  Q9HC21-1   Q9HC21-2   

Explore the universe of human proteins at neXtProt for SLC25A19: NX_Q9HC21

Explore proteomics data for SLC25A19 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys153
  • Modification sites at PhosphoSitePlus

  • See SLC25A19 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001119593.1  NP_001119594.1  NP_068380.3  

    ENSEMBL proteins: 
     ENSP00000462401   ENSP00000397818   ENSP00000385312   ENSP00000402202   ENSP00000319574  
     ENSP00000463795   ENSP00000462214   ENSP00000463039   ENSP00000463720   ENSP00000462299  
     ENSP00000463428   ENSP00000462504   ENSP00000464457   ENSP00000364410  

    SLC25A19 Human Recombinant Protein Products:

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    Novus Biologicals SLC25A19 Protein
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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for SLC25A19 

     
    antibodies-online peptides for SLC25A19

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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: Deoxynucleotide carrier 1
    Mitochondrial nucleotide transporters

    3 InterPro protein domains:
     IPR002067 Mit_carrier
     IPR023395 Mt_carrier_dom
     IPR018108 Mitochondrial_sb/sol_carrier

    Graphical View of Domain Structure for InterPro Entry Q9HC21

    ProtoNet protein and cluster: Q9HC21

    UniProtKB/Swiss-Prot: TPC_HUMAN, Q9HC21
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 3 Solcar repeats


    Find genes that share domains with SLC25A19           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: TPC_HUMAN, Q9HC21
    Function: Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030233deoxynucleotide transmembrane transporter activity TAS11226231
         
    Find genes that share ontologies with SLC25A19           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for SLC25A19:
     Decreased TP53 protein express  Increased cell number in G2M,  

         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc25a19):
     cellular  craniofacial  embryogenesis  growth/size/body  hematopoietic system 
     homeostasis/metabolism  mortality/aging  nervous system  renal/urinary system 

    Find genes that share phenotypes with SLC25A19           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc25a19tm1Mjl for SLC25A19

       genOway: Develop your customized and physiologically relevant rodent model for SLC25A19

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    miRTarBase miRNAs that target SLC25A19:
    hsa-let-7b-5p (MIRT032289), hsa-mir-155-5p (MIRT020598), hsa-mir-1 (MIRT023578)

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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
    TPC_HUMAN, Q9HC21: Mitochondrion inner membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    peroxisome2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with SLC25A19           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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        Pathway & Disease-focused RT2 Profiler PCR Array including SLC25A19: 
              Mitochondria in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SLC25A19

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    Selected Interacting proteins for SLC25A19 (Q9HC213 ENSP000003195744) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MSH2P432463I2D: score=4 
    CDC7O003113I2D: score=1 
    CLN3Q132863I2D: score=1 
    IDI1Q139073I2D: score=1 
    RPS4XP627013I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0030302deoxynucleotide transport NAS11226231

    Find genes that share ontologies with SLC25A19           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 SLC25A19 (TPC)

    5 Novoseek inferred chemical compound relationships for SLC25A19 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nucleoside 48 2 11226231 (1), 18280798 (1)
    fatty acid 29 3 9765271 (1), 12826670 (1)
    thymidine 15.8 1 15539640 (1)
    lipid 7.75 1 11870545 (1)
    glucose 5.93 1 12565902 (1)



    Find genes that share compounds with SLC25A19           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 SLC25A19 gene (3 alternative transcripts): 
    NM_001126121.1  NM_001126122.1  NM_021734.4  

    Unigene Cluster for SLC25A19:

    Solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
    Hs.514470  [show with all ESTs]
    Unigene Representative Sequence: NR_036520
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000582822 ENST00000416858(uc010dge.3 uc002jnv.4) ENST00000402418(uc002jns.4)
    ENST00000442286 ENST00000320362(uc002jnu.4 uc002jnw.4 uc002jnt.4)
    ENST00000580994 ENST00000583332 ENST00000580273 ENST00000579207 ENST00000580151
    ENST00000581988 ENST00000582778 ENST00000584438 ENST00000579228 ENST00000375261

    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat SLC25A19

    Additional mRNA sequence: 

    AF182404.1 AJ251857.1 AK075239.1 AK097882.1 AK225881.1 AL833387.1 AY346372.1 BC001075.2 
    BC005120.1 BC021162.2 NR_036520.1 

    12 DOTS entries:

    DT.416044  DT.100780056  DT.75153976  DT.95224648  DT.100780058  DT.120905341  DT.92432362  DT.95240793 
    DT.100025021  DT.120905349  DT.100774987  DT.40200324 

    Selected AceView cDNA sequences (see all 189):

    CR624640 AI016017 CA430830 CR590620 CR619889 BM476254 CR626101 AA282854 
    BU634181 T31632 CR623625 AA814840 BX439332 CB305599 BQ448455 BM824112 
    AA371302 BM976690 BU193358 AA133901 BX421472 N26046 BE742926 BM560641 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A19 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c · 10d · 10e
    SP1:                                      -     -                                                                                             
    SP2:                                            -                                                                                             
    SP3:                    -     -     -     -     -                                                                                             
    SP4:                    -     -           -     -                                                                                             
    SP5:                                                                                                                                          


    ECgene alternative splicing isoforms for SLC25A19

    (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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    SLC25A19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC25A19 Expression
    About this image


    SLC25A19 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Adipose (Muscoskeletal System)
             Thoracic Perivascular Adipose
    SLC25A19 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC25A19 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.514470

    UniProtKB/Swiss-Prot: TPC_HUMAN, Q9HC21
    Tissue specificity: Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung,
    testis, spleen, and brain

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC25A19: 
              Mitochondria in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A19

    (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 eukaryotes.

    Orthologs for SLC25A19 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc25a191 , 5 solute carrier family 25 (mitochondrial thiamine pyrophosphate more1, 5 80.63(n)1
    76.19(a)1
      11 (80.91 cM)5
    672831  NM_026071.31  NP_080347.11 
     1156141785 
    chicken
    (Gallus gallus)
    Aves SLC25A191 solute carrier family 25 (mitochondrial thiamine pyrophosphate more 67.82(n)
    66.35(a)
      422123  XM_004946368.1  XP_004946425.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC25A196
    solute carrier family 25 (mitochondrial thiamine p...
    66(a)
    1 ↔ 1
    2(114622173-114630505)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.39332 Transcribed sequence with weak similarity to protein more 72.94(n)    AL862936.2 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj01c082 Danio rerio clone RK050A1F10 solute carrier family more 73.62(n)    AY394951.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG66083
    Tpc11
    carrier3
    Thiamine pyrophosphate carrier protein 11
    37(a)
    (best of 2)3
    47.64(n)1
    40.2(a)1
      86C73
    413161  NM_141777.41  NP_650034.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C42C1.103
    hpo-121
    mitochondrial carrier protein3
    hpo-121
    42(a)3
    49.11(n)1
    43.33(a)1
      IV(12283366-12285013)3
    1834021  NM_001268703.11  NP_001255632.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TPC1(YGR096W)4
    TPC11
    Mitochondrial membrane transporter that mediates uptake more4
    TPC11
    42.64(n)1
    30(a)1
      7(676621-677565)4
    8529881, 4  NP_011610.31  NP_011610.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G489701 AT5G48970 49.26(n)
    43.69(a)
      834956  NM_124274.3  NP_199708.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g09342001 Os01g0934200 50.29(n)
    43.6(a)
      4326831  NM_001051844.1  NP_001045309.1 


    ENSEMBL Gene Tree for SLC25A19 (if available)
    TreeFam Gene Tree for SLC25A19 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC25A19 gene
    8 SIMAP similar genes for SLC25A19 using alignment to 9 protein entries:     TPC_HUMAN (see all proteins):
    DKFZp667O1614    SLC25A22    SLC25A25    SLC25A23    SLC25A30    UCP3
    SLC25A16    UCP2

    Find genes that share paralogs with SLC25A19           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 SLC25A19 (see all 474)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0141034
    Microcephaly, Amish type (MCPHA)4--see VAR_0141032 G A mis40--------
    VAR_0651254
    Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4)4--see VAR_0651252 G S mis40--------
    rs30826411,2
    C--73269841(-) aaTAA-/AATA  
     A
    /AATAG
    TTTGC
    3 -- int10--------
    rs713616661,2
    C--73271067(+) TTTTT-/T/TTT 
            
    TTTTT
    6 -- int1 cds11NA 2
    rs670400591,2
    C--73271078(-) GTCTC-/AAAAAAAAAA
    /AAAAAAAAAAAA
    AAAAA
    6 -- int1 cds12NA 4
    rs1135519051,2
    C,F--73272664(+) GGCTGC/GTCTAG 3 -- int11Minor allele frequency- G:0.00WA 2
    rs3773877481,2
    C--73272931(+) TTTTT-/TTTTTT 3 -- int10--------
    rs32149171,2
    C--73274500(+) TAAAA-/ATACCA 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs771829781,2
    C--73275069(+) AATAA-/ATAA  
            
    TAAAA
    3 -- int10--------
    rs1117324441,2
    C--73275795(+) ATGTTA/GGCCAG 3 -- int10--------

    HapMap Linkage Disequilibrium report for SLC25A19 (73269061 - 73285591 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SLC25A19:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2671377CNV Deletion23128226
    esv2716237CNV Deletion23290073
    nsv908760CNV Loss21882294
    nsv908761CNV Loss21882294
    nsv908758CNV Loss21882294
    nsv510727CNV Loss20534489

    Human Gene Mutation Database (HGMD): SLC25A19
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC25A19
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A19

    (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: 606521   
    OMIM disorders: 607196  613710  
    UniProtKB/Swiss-Prot: TPC_HUMAN, Q9HC21
  • Microcephaly, Amish type (MCPHA) [MIM:607196]: A disorder characterized by severe congenital microcephaly
    and severe 2-ketoglutaric aciduria leading to death within the first year. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive
    polyneuropathy type (THMD4) [MIM:613710]: A disease characterized by recurrent episodes of flaccid paralysis and
    encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 5 diseases for SLC25A19:    
    About MalaCards
    thiamine metabolism dysfunction syndrome 4    detrusor sphincter dyssynergia    nasal cavity squamous cell carcinoma    amish lethal microcephaly
    microcephaly

    3 diseases from the University of Copenhagen DISEASES database for SLC25A19:
    Nasal cavity squamous cell carcinoma     Microcephaly     Detrusor sphincter dyssynergia

    Find genes that share disorders with SLC25A19           About GenesLikeMe

    GeneTests: SLC25A19
    GeneReviews: SLC25A19
    Genetic Association Database (GAD): SLC25A19
    Human Genome Epidemiology (HuGE) Navigator: SLC25A19 (1 document)

    Export disorders for SLC25A19 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 SLC25A19 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with SLC25A19)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals. (PubMed id 11226231)1, 2, 3, 9 Dolce V.... Walker J.E. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    2. SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis. (PubMed id 19798730)1, 2, 3 Spiegel R.... Elpeleg O. (Ann. Neurol. 2009)
    3. The evidence that the DNC (SLC25A19) is not the mitochondrial deoxyribonucleotide carrier. (PubMed id 18280798)1, 2, 9 Kang J. and Samuels D.C. (Mitochondrion 2008)
    4. Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC). (PubMed id 11474176)1, 3, 9 Iacobazzi V....Palmieri F. (Cytogenet. Cell Genet. 2001)
    5. Mutant deoxynucleotide carrier is associated with congenital microcephaly. (PubMed id 12185364)1, 2, 9 Rosenberg M.J....Biesecker L.G. (Nat. Genet. 2002)
    6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    7. 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)
    8. Expression of deoxynucleotide carrier is not associated with the mitochondrial DNA depletion caused by anti-HIV dideoxynucleoside analogs and mitochondrial dNTP uptake. (PubMed id 15539640)1, 9 Lam W....Cheng Y.C. (Mol. Pharmacol. 2005)
    9. Up-regulation of vitamin B1 homeostasis genes in breast cancer. (PubMed id 23642734)1 Zastre J.A....Govindarajan R. (J. Nutr. Biochem. 2013)
    10. Characterization of the human mitochondrial thiamine pyrophosphate transporter SLC25A19 minimal promoter: a role for NF-Y in regulating basal transcription. (PubMed id 23872534)1 Nabokina S.M....Said H.M. (Gene 2013)

    (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)
    About This Section

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    Entrez Gene: 60386 HGNC: 14409 AceView: SLC25A19 Ensembl:ENSG00000125454 euGenes: HUgn60386
    ECgene: SLC25A19 H-InvDB: SLC25A19

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for SLC25A19 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC25A19[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC25A19 gene:
    Search GeneIP for patents involving SLC25A19

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



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