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

TYMP Gene

protein-coding   GIFtS: 64
GCID: GC22M050964

Thymidine Phosphorylase

(Previous name: endothelial cell growth factor 1 (platelet-derived))
(Previous symbols: MNGIE, ECGF1)
Microbiology & Infectious Diseases Congress
  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
Thymidine Phosphorylase1 2     Endothelial Cell Growth Factor 1 (Platelet-Derived)1
ECGF11 2 3 5     ECGF2
MNGIE1 2 5     hPD-ECGF2
gliostatin1 2     tdRPase2
TP2 3     Gliostatin3
EC 2.4.2.43 8     PD-ECGF3
MEDPS12 5     TdRPase3
MTDPS12 5     Platelet-Derived Endothelial Cell Growth Factor3
PDECGF2 5     EC 2.4.28

External Ids:    HGNC: 31481   Entrez Gene: 18902   Ensembl: ENSG000000257087   OMIM: 1312225   UniProtKB: P199713   

Export aliases for TYMP gene to outside databases

Previous GC identifers: GC22M049312 GC22M033855


(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 TYMP Gene:
This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a
variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial
cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy.
Multiple alternatively spliced transcript variants have been identified. (provided by RefSeq, Apr 2012)

GeneCards Summary for TYMP Gene: 
TYMP (thymidine phosphorylase) is a protein-coding gene. Diseases associated with TYMP include encephalomyopathy, and mitochondrial neurogastrointestinal encephalopathy disease, and among its related super-pathways are Fluoropyrimidine Pathway, Pharmacokinetics and Metabolic pathways. GO annotations related to this gene include growth factor activity and phosphorylase activity.

UniProtKB/Swiss-Prot: TYPH_HUMAN, P19971
Function: May have a role in maintaining the integrity of the blood vessels. Has growth promoting activity on
endothelial cells, angiogenic activity in vivo and chemotactic activity on endothelial cells in vitro
Function: Catalyzes the reversible phosphorolysis of thymidine. The produced molecules are then utilized as carbon
and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis

Gene Wiki entry for TYMP (ECGF1) 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_000022.10  NC_018933.2  NT_011526.7  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TYMP gene promoter:
         Sp1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TYMP promoter sequence
   Search SABiosciences Chromatin IP Primers for TYMP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TYMP


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

Entrez Gene cytogenetic band: 22q13.33   Ensembl cytogenetic band:  22q13.33   HGNC cytogenetic band: 22q13

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

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M050964:  view genomic region     (about GC identifiers)

Start:
50,964,181 bp from pter      End:
50,968,514 bp from pter
Size:
4,334 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: TYPH_HUMAN, P19971 (See protein sequence)
Recommended Name: Thymidine phosphorylase precursor  
Size: 482 amino acids; 49955 Da
Subunit: Homodimer
4 PDB 3D structures from and Proteopedia for TYMP:
1UOU (3D)        2J0F (3D)        2WK5 (3D)        2WK6 (3D)    
Secondary accessions: A8MW15 H9KVA0 Q13390 Q8WVB7
Alternative splicing: 2 isoforms:  P19971-1   P19971-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TYMP: NX_P19971

Explore proteomics data for TYMP at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P19971

  • 4/6 DME Specific Peptides for TYMP (P19971) (see all 6)
     RDVTATV  DKHSTGG  LITASIL  SGRGLGHTGGT 

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

    TYMP Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001107227.1  NP_001107228.1  NP_001244917.1  NP_001244918.1  NP_001944.1  

    ENSEMBL proteins: 
     ENSP00000379037   ENSP00000379038   ENSP00000252029   ENSP00000379036   ENSP00000395875  
    Reactome Protein details: P19971
    Human Recombinant Protein Products for TYMP: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for TYMP (PD-ECGF/Thymidine Phosphorylase)
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    OriGene Purified Protein for TYMP
    OriGene Protein Over-expression Lysate for TYMP
    OriGene MassSpec for TYMP 
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    GenScript Custom Purified and Recombinant Proteins Services for TYMP
    Novus Biologicals TYMP Proteins
    Novus Biologicals TYMP Lysate
    Sino Biological Recombinant Protein for TYMP
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for TYMP
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    TYMP for ontologies           About GeneDecksing



    TYMP Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    GenScript Custom Assay Services for TYMP
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR017459 Glycosyl_Trfase_fam3_N_dom
     IPR017872 Pyrmidine_PPase_CS
     IPR000053 Pyrmidine_PPase
     IPR013102 PYNP_C
     IPR018090 Pyrmidine_PPas_bac/euk

    Graphical View of Domain Structure for InterPro Entry P19971

    ProtoNet protein and cluster: P19971

    1 Blocks protein domain: IPB000053 Thymidine/pyrimidine-nucleoside phosphorylase

    UniProtKB/Swiss-Prot: TYPH_HUMAN, P19971
    Similarity: Belongs to the thymidine/pyrimidine-nucleoside phosphorylase family


    TYMP 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: TYPH_HUMAN, P19971
    Function: May have a role in maintaining the integrity of the blood vessels. Has growth promoting activity on
    endothelial cells, angiogenic activity in vivo and chemotactic activity on endothelial cells in vitro
    Function: Catalyzes the reversible phosphorolysis of thymidine. The produced molecules are then utilized as carbon
    and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis
    Catalytic activity: Thymidine + phosphate = thymine + 2-deoxy-alpha-D-ribose 1-phosphate

         Enzyme Numbers (IUBMB): EC 2.4.2.41 2 EC 2.4.22

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004645phosphorylase activity IEA--
    GO:0005161platelet-derived growth factor receptor binding TAS2005900
    GO:0008083growth factor activity IEA--
    GO:0009032thymidine phosphorylase activity IEA--
    GO:0016154pyrimidine-nucleoside phosphorylase activity IEA--
         
    TYMP for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TYMP:
     Decreased number of cells in m 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tymp):
     cellular  homeostasis/metabolism  immune system  nervous system  skeleton 

    TYMP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TYMP: Tymptm1Mihi Tymptm1Akiy

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TYMP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TYMP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TYMP 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TYMP 

    miRNA
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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate TYMP
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for TYMP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): TYMP (NM_001113755)
    Sino Biological Human cDNA Clone for TYMP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TYMP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TYMP
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                         Customized lentivirus expression plasmids for stable overexpression of TYMP 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TYMP


    (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 TYMP About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Fluoropyrimidine Activity
    Fluoropyrimidine Activity0.69
    Fluoropyrimidine Pathway, Pharmacokinetics0.69
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Pyrimidine metabolism
    Pyrimidine metabolism0.50
    Pyrimidine salvage reactions0.38
    Pyrimidine catabolism0.50
    4pyrimidine ribonucleosides degradation
    pyrimidine deoxyribonucleosides degradation0.67
    5Purine metabolism
    Metabolism of nucleotides0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Cell Signaling Technology (CST) Pathways for TYMP
        Chromatin Regulation / Acetylation
    Apoptosis and Autophagy
    Angiogenesis

    2 BioSystems Pathways for TYMP
        Fluoropyrimidine Activity
    pyrimidine deoxyribonucleosides degradation


    5        Reactome Pathways for TYMP
        Metabolism of nucleotides
    Metabolism
    Pyrimidine catabolism
    Pyrimidine salvage reactions
    Pyrimidine metabolism

    1 PharmGKB Pathway for TYMP
        Fluoropyrimidine Pathway, Pharmacokinetics

    4         Kegg Pathways  (Kegg details for TYMP):
        Pyrimidine metabolism
    Drug metabolism - other enzymes
    Metabolic pathways
    Bladder cancer

    UniProtKB/Swiss-Prot: TYPH_HUMAN, P19971
    Pathway: Pyrimidine metabolism; dTMP biosynthesis via salvage pathway; dTMP from thymine: step 1/2


    TYMP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TYMP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/19 Interacting proteins for TYMP (ENSP000002520294) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDAENSP000003642124STRING: ENSP00000364212
    CYP2A13ENSP000003326794STRING: ENSP00000332679
    CYP2A6ENSP000003011414STRING: ENSP00000301141
    DPYDENSP000003592114STRING: ENSP00000359211
    NT5CENSP000002455524STRING: ENSP00000245552
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000002mitochondrial genome maintenance TAS9924029
    GO:0001525angiogenesis IEA--
    GO:0006206pyrimidine nucleobase metabolic process TAS--
    GO:0006213pyrimidine nucleoside metabolic process ----
    GO:0006220pyrimidine nucleotide metabolic process TAS9924029

    TYMP 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

    TYMP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TYMP (TYPH)

    10 HMDB Compounds for TYMP    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenine1,6-Dihydro-6-iminopurine (see all 19)73-24-5--
    Deoxyadenosine monophosphate2'-Deoxy-5'-adenylate (see all 24)653-63-4--
    Deoxyguanosine2'-Deoxyguanosine (see all 11)961-07-9--
    Deoxyinosine2'-Deoxyinosine (see all 10)890-38-0--
    Deoxyribose 1-phosphate2-deoxy-D-ribose-1-phosphate (see all 14)17210-42-3--
    Deoxyuridine1-(2-Deoxy-D-erythro-pentofuranosyl)uracil (see all 12)951-78-0--
    GuanineGUN (see all 26)73-40-5--
    Thymidine1-(2-Deoxy-b-D-erythro-pentofuranosyl)-5-methyl-2,4(1H,3H)-pyrimidinedione (see all 17)50-89-5--
    Thymine2,4-Dihydroxy-5-methylpyrimidine (see all 8)65-71-4--
    Uracil2,4-Dihydroxypyrimidine (see all 8)66-22-8--

    6 DrugBank Compounds for TYMP    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Capecitabine-- 154361-50-9enzymesubstrate12481438 16926630 15763604 11291832 12866042 15132128 10630095 11587492 10755317 15134221 11081570
    Trifluridine-- 70-00-8enzymesubstrate18798063 15571283 17179993 14719072 6010427 16902987
    Floxuridine5 Fluorodeoxyuridine (see all 10)50-91-9enzymesubstrate18652477 14069549
    CidofovirCDV (see all 2)113852-37-2enzymeinhibitor19844936
    Fluorouracil5-Fluorouracil (see all 6)51-21-8enzymesubstrate21332317
    5-Chloro-6-[(2-Iminopyrrolidin-1-Yl)Methyl]Pyrimidine-2,4(1h,3h)-Dione-- --target----
    enzyme----

    10/99 Novoseek inferred chemical compound relationships for TYMP gene (see all 99)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thymidine 95.9 2344 12639965 (9), 12397781 (8), 17993734 (7), 16721548 (7) (see all 99)
    5'-deoxy-5-fluorouridine 94.8 218 15201953 (5), 12820419 (5), 12020396 (5), 15604581 (4) (see all 75)
    deoxyribose-1-phosphate 93.5 39 8137250 (2), 12543812 (2), 1850393 (1), 10796062 (1) (see all 23)
    capecitabine 92.6 293 15917420 (6), 18765464 (6), 19117293 (6), 15132128 (5) (see all 99)
    thymidylate 90 241 15538739 (2), 15777505 (2), 17047489 (2), 19051292 (2) (see all 99)
    5fluorouracil 87.6 557 10412941 (6), 20372793 (6), 7642571 (5), 9796967 (5) (see all 99)
    pyrimidine nucleoside 83.4 21 7538895 (1), 10685502 (1), 11706522 (1), 2328255 (1) (see all 17)
    deoxyuridine 81 49 12646159 (2), 12813027 (2), 16971699 (2), 16178026 (2) (see all 22)
    trifluorothymidine 80.9 45 15711180 (3), 15140625 (3), 17441963 (2), 18555978 (2) (see all 13)
    orotic acid 77.7 45 17443278 (2), 18652704 (2), 17637543 (2), 17214322 (1) (see all 23)

    Search CenterWatch for drugs/clinical trials and news about TYMP / TYPH

    (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 TYMP gene (5 alternative transcripts): 
    NM_001113755.2  NM_001113756.2  NM_001257988.1  NM_001257989.1  NM_001953.4  

    Unigene Cluster for TYMP:

    Thymidine phosphorylase
    Hs.180903  [show with all ESTs]
    Unigene Representative Sequence: AK057214
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000395680 ENST00000395681 ENST00000252029(uc003bmc.4 uc003bme.4 uc010hbd.3 uc003bmd.4 uc011arz.1)
    ENST00000487577(uc003bmb.4) ENST00000395678 ENST00000476284 ENST00000425169
    ENST00000487162
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    GenScript: all cDNA clones in your preferred vector (see all 3): TYMP (NM_001113755)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TYMP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TYMP
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TYMP
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TYMP

    Additional mRNA sequence: 

    AK057214.1 AK225269.1 AK298691.1 AK301194.1 AK314716.1 AL021683.1 BC018160.1 BC052211.2 
    BC102024.1 BC102025.1 M63193.1 

    24/34 DOTS entries (see all 34):

    DT.453568  DT.100879963  DT.100879971  DT.95168904  DT.100839037  DT.40195389  DT.100879983  DT.92020249 
    DT.92419084  DT.95252736  DT.100879991  DT.120638056  DT.92455484  DT.100768232  DT.100879980  DT.120638104 
    DT.100766191  DT.100807874  DT.100879974  DT.100879975  DT.95252742  DT.100645925  DT.100762272  DT.100840422 

    24/481 AceView cDNA sequences (see all 481):

    BG120390 BM727471 CR601687 CD743035 CR622550 CR610293 CR616233 CR610417 
    CB152453 BU734727 BM127130 BE502258 CR615106 CR619786 BX280388 CB305725 
    AI765458 CR603653 BU675175 BI962661 BX104808 CB851017 AW513414 BM682370 

    GeneLoc Exon Structure

    5/21 Alternative Splicing Database (ASD) splice patterns (SP) for TYMP (see all 21)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g ^ 3a · 3b · 3c · 3d · 3e · 3f ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d ^ 6a · 6b ·
    SP1:                    -     -                                                           -     -     -                       -                 -     -     -   
    SP2:                    -     -     -     -     -                                         -     -     -                       -                 -     -     -   
    SP3:                                                                                      -     -     -                       -                 -     -     -   
    SP4:                    -     -     -     -                                               -     -     -                       -                 -     -     -   
    SP5:                    -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                 -     -     -   

    ExUns: 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11
    SP1:                                      -               
    SP2:                                      -               
    SP3:                                      -               
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for TYMP

    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.180903
        SABiosciences Expression via Pathway-Focused PCR Arrays including TYMP (see all 6): 
              Growth Factors in human mouse rat
              Endothelial Cell Biology in human mouse rat
              Angiogenic Growth Factors in human mouse rat
              Angiogenesis in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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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 chordates.

    Orthologs for TYMP gene from 3/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tymp1 , 5 thymidine phosphorylase1, 5 78.25(n)1
    81.76(a)1
      15 (44.86 cM)5
    729621  NM_138302.11  NP_612175.11 
     893719315 
    lizard
    (Anolis carolinensis)
    Reptilia TYMP6
    Uncharacterized protein
    58(a)
    1 ↔ 1
    GL343682.1(145355-169190)
    rainbow trout
    (Oncorhynchus mykiss)
    Actinopterygii Omy.100422 Oncorhynchus mykiss transcribed sequence with weak more 76.44(n)    CA348293.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/208 SNPs in TYMP are shown (see all 208)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0076454
    Mitochondrial DNA depletion syndrome 1 (MTDPS1)4--see VAR_0076452 K R mis40--------
    VAR_0076464
    Mitochondrial DNA depletion syndrome 1 (MTDPS1)4--see VAR_0076462 E A mis40--------
    VAR_0076444
    Mitochondrial DNA depletion syndrome 1 (MTDPS1)4--see VAR_0076442 G S mis40--------
    VAR_0167774
    Mitochondrial DNA depletion syndrome 1 (MTDPS1)4--see VAR_0167772 R Q mis40--------
    VAR_0076434
    Mitochondrial DNA depletion syndrome 1 (MTDPS1)4--see VAR_0076432 G R mis40--------
    rs1219130391,2
    C,Fpathogenic134909038(-) CCACCG/ATGGAC 10 /M /V mis11Minor allele frequency- A:0.00NA 4552
    rs1219130371,2
    Cpathogenic134910018(-) TCAGCA/GGACGT 10 R G mis10--------
    rs289316131,2
    Cpathogenic134911003(-) GAAGCG/AAGACG 10 /Q /R mis1 ese31Minor allele frequency- A:0.00NA 2
    rs81363811,2
    C,A--34906694(+) CCGCGC/TGAGCG 5 -- ds50012Minor allele frequency- T:0.20NA WA 120
    rs744796131,2
    C,F--34906902(+) CCTCGC/TGGCGG 5 -- ds50012Minor allele frequency- T:0.13WA EA 238

    HapMap Linkage Disequilibrium report for TYMP (50964181 - 50968514 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for TYMP (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv915495CNV Loss21882294
    dgv5065n71CNV Loss21882294
    nsv834238CNV Loss17160897
    dgv5064n71CNV Loss21882294
    nsv834239CNV Loss17160897
    dgv5066n71CNV Loss21882294
    nsv471224CNV Loss18288195
    dgv5067n71CNV Loss21882294
    nsv914556CNV Loss21882294
    dgv5062n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): TYMP
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing TYMP
    DNA2.0 Custom Variant and Variant Library Synthesis for TYMP

    (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: 131222   
    OMIM disorders: 603041  
    UniProtKB/Swiss-Prot: TYPH_HUMAN, P19971
  • Mitochondrial DNA depletion syndrome 1 (MTDPS1) [MIM:603041]: A multisystem disease associated with
    mitochondrial dysfunction. It is clinically characterized by onset between the second and fifth decades of life,
    ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse
    leukoencephalopathy, cachexia, peripheral neuropathy, and myopathy. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/118 diseases for TYMP (see all 118):    About MalaCards
    encephalomyopathy    mitochondrial neurogastrointestinal encephalopathy disease    mitochondrial dna depletion syndrome 1    cervical squamous cell carcinoma
    nodular malignant melanoma    verrucous carcinoma    pancreatic ductal carcinoma    pulmonary vein stenosis
    gallbladder adenocarcinoma    plague    papillary adenocarcinoma    ophthalmoplegia
    n syndrome    pyloric stenosis    hypertrophic pyloric stenosis    intestinal pseudo-obstruction
    mitochondrial dna depletion syndrome    capillary hemangioma    endotheliitis    chronic progressive external ophthalmoplegia

    6 diseases from the University of Copenhagen DISEASES database for TYMP:
    Colorectal cancer     Carcinoma     Breast cancer     Chronic progressive external ophthalmoplegia
    Ophthalmoplegia     Ileus

    TYMP for disorders           About GeneDecksing

    10/96 Novoseek inferred disease relationships for TYMP gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mngie 95.3 106 14633909 (6), 16178026 (5), 11733540 (4), 17544574 (3) (see all 42)
    tumors 71.4 939 15289834 (8), 10741908 (6), 11268481 (6), 15706408 (6) (see all 99)
    colorectal cancer 69.4 141 15069545 (5), 12375032 (4), 17179731 (4), 10831266 (3) (see all 60)
    progressive external ophthalmoplegia 67.9 1 14557557 (1)
    gastric cancer 63.3 80 18922971 (4), 9516932 (3), 17923735 (3), 17143479 (3) (see all 38)
    metastasis 62.9 164 15254700 (5), 12027197 (3), 15546501 (3), 18613378 (3) (see all 87)
    cancer 60.7 338 17923735 (6), 17143479 (6), 15323351 (6), 12722680 (6) (see all 99)
    solid tumor 59.5 48 12543812 (2), 10741908 (1), 2167917 (1), 10630095 (1) (see all 30)
    neovascularization 58.2 21 9563652 (2), 7507805 (1), 9529017 (1), 10632327 (1) (see all 17)
    breast cancer metastatic 57.2 7 18441329 (1), 11432617 (1), 12454317 (1), 15114696 (1) (see all 5)

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

    Export disorders for TYMP 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 TYMP gene, integrated from 9 sources (see all 997):
    (articles sorted by number of sources associating them with TYMP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Platelet-derived endothelial cell growth factor has thymidine phosphorylase activity. (PubMed id 1590793)1, 2, 3, 9 Usuki K.... Heldin C.-H. (1992)
    2. Altered thymidine metabolism due to defects of thymidine phosphorylase. (PubMed id 11733540)1, 3, 9 Spinazzola A....Hirano M. (2002)
    3. Thymidine kinase and thymidine phosphorylase level as the main predictive parameter for sensitivity to TAS-102 in a mouse model. (PubMed id 14719072)1, 7, 9 Emura T....Kitazato K. (2004)
    4. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. (PubMed id 9924029)1, 2, 9 Nishino I.... Hirano M. (1999)
    5. Structures of native human thymidine phosphorylase an d in complex with 5-iodouracil. (PubMed id 19555658)1, 2, 9 Mitsiki E....Acharya K.R. (2009)
    6. Frequency of Mitochondrial Defects in Patients With Chronic Intestinal Pseudo-Obstruction. (PubMed id 19344718)1, 4, 9 Amiot A....LombA"s A. (2009)
    7. Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis. (PubMed id 18955007)1, 4, 9 Verny C....Bonneau D. (2008)
    8. Structural basis for non-competitive product inhibition in human thymidine phosphorylase: implications for drug design. (PubMed id 16803458)1, 2, 9 El Omari K....Stammers D.K. (2006)
    9. Neurotrophic action of gliostatin on cortical neurons. Identity of gliostatin and platelet-derived endothelial cell growth factor. (PubMed id 1400349)1, 2, 9 Asai K.... Kato T. (1992)
    10. Genome-wide association study of hematological and bi ochemical traits in a Japanese population. (PubMed id 20139978)1, 4 Kamatani Y....Kamatani N. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 1890 HGNC: 3148 AceView: ECGF1andSCO2andLOC440836 Ensembl:ENSG00000025708 euGenes: HUgn1890
    ECgene: TYMP Kegg: 1890 H-InvDB: TYMP

    (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 TYMP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TYMP Genetics and Cytogenetics in Oncology and Haematology
    R&D Systems' cytokine mini-reviews: PD-ECGFhttp://www.rndsystems.com/molecule_detail.aspx?m=1965
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TYMP

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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