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Aliases for TYMP Gene

Aliases for TYMP Gene

  • Thymidine Phosphorylase 2 3 5
  • Gliostatin 2 3 4
  • EC 2.4.2.4 4 63
  • TdRPase 3 4
  • ECGF1 3 4
  • TP 3 4
  • Endothelial Cell Growth Factor 1 (Platelet-Derived) 2
  • Platelet-Derived Endothelial Cell Growth Factor 4
  • HPD-ECGF 3
  • EC 2.4.2 63
  • PD-ECGF 4
  • MEDPS1 3
  • MTDPS1 3
  • PDECGF 3
  • MNGIE 3
  • ECGF 3

External Ids for TYMP Gene

Previous HGNC Symbols for TYMP Gene

  • MNGIE
  • ECGF1

Previous GeneCards Identifiers for TYMP Gene

  • GC22M049312
  • GC22M050964
  • GC22M033855

Summaries for TYMP Gene

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 mitochondrial dna depletion syndrome 1 and mitochondrial neurogastrointestinal encephalopathy disease. Among its related pathways are Bladder cancer and Porphyrin and chlorophyll metabolism. GO annotations related to this gene include growth factor activity and platelet-derived growth factor receptor binding.

UniProtKB/Swiss-Prot for TYMP Gene

  • 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.

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TYMP Gene

Genomics for TYMP Gene

Regulatory Elements for TYMP Gene

Enhancers for TYMP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TYMP on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the TYMP gene promoter:

Genomic Location for TYMP Gene

Chromosome:
22
Start:
50,525,752 bp from pter
End:
50,530,085 bp from pter
Size:
4,334 bases
Orientation:
Minus strand

Genomic View for TYMP Gene

Genes around TYMP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TYMP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TYMP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TYMP Gene

Proteins for TYMP Gene

  • Protein details for TYMP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19971-TYPH_HUMAN
    Recommended name:
    Thymidine phosphorylase
    Protein Accession:
    P19971
    Secondary Accessions:
    • A8MW15
    • H9KVA0
    • Q13390
    • Q8WVB7

    Protein attributes for TYMP Gene

    Size:
    482 amino acids
    Molecular mass:
    49955 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for TYMP Gene

    Alternative splice isoforms for TYMP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TYMP Gene

Proteomics data for TYMP Gene at MOPED

Selected DME Specific Peptides for TYMP Gene

Post-translational modifications for TYMP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for TYMP (PD-ECGF/Thymidine Phosphorylase)
  • Cell Signaling Technology (CST) Antibodies for TYMP (ECGF1)

Domains & Families for TYMP Gene

Gene Families for TYMP Gene

Suggested Antigen Peptide Sequences for TYMP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P19971

UniProtKB/Swiss-Prot:

TYPH_HUMAN :
  • Belongs to the thymidine/pyrimidine-nucleoside phosphorylase family.
Family:
  • Belongs to the thymidine/pyrimidine-nucleoside phosphorylase family.
genes like me logo Genes that share domains with TYMP: view

Function for TYMP Gene

Molecular function for TYMP Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Thymidine + phosphate = thymine + 2-deoxy-alpha-D-ribose 1-phosphate.
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for TYMP Gene

Gene Ontology (GO) - Molecular Function for TYMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004645 phosphorylase activity IEA,IBA --
GO:0008083 growth factor activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with TYMP: view
genes like me logo Genes that share phenotypes with TYMP: view

Human Phenotype Ontology for TYMP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TYMP Gene

MGI Knock Outs for TYMP:

Animal Model Products

miRNA for TYMP Gene

miRTarBase miRNAs that target TYMP

No data available for Transcription Factor Targets and HOMER Transcription for TYMP Gene

Localization for TYMP Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TYMP Gene COMPARTMENTS Subcellular localization image for TYMP gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 3
extracellular 2
golgi apparatus 2
endoplasmic reticulum 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TYMP Gene

Pathways & Interactions for TYMP Gene

genes like me logo Genes that share pathways with TYMP: view

UniProtKB/Swiss-Prot P19971-TYPH_HUMAN

  • Pathway: Pyrimidine metabolism; dTMP biosynthesis via salvage pathway; dTMP from thymine: step 1/2.

Interacting Proteins for TYMP Gene

Gene Ontology (GO) - Biological Process for TYMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000002 mitochondrial genome maintenance TAS 9924029
GO:0001525 angiogenesis IEA --
GO:0006206 pyrimidine nucleobase metabolic process IEA --
GO:0006213 pyrimidine nucleoside metabolic process IEA --
GO:0006220 pyrimidine nucleotide metabolic process TAS 9924029
genes like me logo Genes that share ontologies with TYMP: view

No data available for SIGNOR curated interactions for TYMP Gene

Drugs & Compounds for TYMP Gene

(57) Drugs for TYMP Gene - From: DrugBank, PharmGKB, ApexBio, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Capecitabine Approved, Investigational Pharma Enzyme, substrate RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1239
Fluorouracil Approved Pharma Enzyme, substrate RNA processing inhibitor and thymidylate synthase inhibitor 1697
Cidofovir Approved Pharma Enzyme, inhibitor Anti-CMV drug;inhibitor of viral DNA syntheis 31
Floxuridine Approved Pharma Enzyme, substrate Antineoplastic antimetabolite, RNA and DNA synthesis inhibitor 48
Trifluridine Approved Pharma Enzyme, substrate 19

(54) Additional Compounds for TYMP Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5'-Deoxy-5-fluorouridine
5-Deoxyribose-1-phosphate
Deoxyribose 1-phosphate
  • 2-Deoxy-alpha-D-ribose 1-phosphate
  • 2-Deoxy-alpha-delta-ribose 1-phosphate
  • 2-Deoxy-D-erythro-pentofuranose 1-phosphate
  • 2-Deoxy-D-ribose 1-phosphate
  • 2-Deoxy-D-ribose-1-phosphate
17210-42-3
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2

(1) ApexBio Compounds for TYMP Gene

Compound Action Cas Number
Tipiracil hydrochloride Thymidine phosphorylase inhibitor 183204-72-0
genes like me logo Genes that share compounds with TYMP: view

Transcripts for TYMP Gene

Unigene Clusters for TYMP Gene

Thymidine phosphorylase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TYMP Gene

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: - - - - - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - -
SP7: - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - - -
SP10: - - -
SP11: - -
SP12: - - -
SP13: - - - - -
SP14: - - - - - - - - - - - - - -
SP15: - - -
SP16: - - - -
SP17: - - - - -
SP18:
SP19: -
SP20:
SP21:

ExUns: 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21: - -

Relevant External Links for TYMP Gene

GeneLoc Exon Structure for
TYMP
ECgene alternative splicing isoforms for
TYMP

Expression for TYMP Gene

mRNA expression in normal human tissues for TYMP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TYMP Gene

This gene is overexpressed in Whole Blood (x13.9).

Protein differential expression in normal tissues from HIPED for TYMP Gene

This gene is overexpressed in Spleen (7.6), Tonsil (7.2), and Lymph node (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TYMP Gene



SOURCE GeneReport for Unigene cluster for TYMP Gene Hs.180903

genes like me logo Genes that share expression patterns with TYMP: view

Protein tissue co-expression partners for TYMP Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for TYMP Gene

Orthologs for TYMP Gene

This gene was present in the common ancestor of chordates.

Orthologs for TYMP Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Tymp 35
  • 78.25 (n)
  • 81.76 (a)
Tymp 16
Tymp 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TYMP 35
  • 98.95 (n)
  • 99.37 (a)
TYMP 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tymp 35
  • 78.51 (n)
  • 82.24 (a)
oppossum
(Monodelphis domestica)
Mammalia TYMP 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 62 (a)
OneToMany
-- 36
  • 6 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia TYMP 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tymp 35
  • 56.56 (n)
  • 57.47 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10042 35
Species with no ortholog for TYMP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TYMP Gene

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

Paralogs for TYMP Gene

No data available for Paralogs for TYMP Gene

Variants for TYMP Gene

Sequence variations from dbSNP and Humsavar for TYMP Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
VAR_007643 Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1)
VAR_007644 Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1)
VAR_007645 Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1)
VAR_007646 Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1)
VAR_007648 -

Structural Variations from Database of Genomic Variants (DGV) for TYMP Gene

Variant ID Type Subtype PubMed ID
nsv915495 CNV Loss 21882294
nsv914525 CNV Loss 21882294
dgv5062n71 CNV Loss 21882294
nsv834238 CNV Loss 17160897
nsv471224 CNV Loss 18288195
nsv914542 CNV Loss 21882294
nsv914543 CNV Loss 21882294
dgv5064n71 CNV Loss 21882294
dgv5065n71 CNV Loss 21882294
nsv834239 CNV Loss 17160897
dgv1422e1 CNV Complex 17122850
dgv5066n71 CNV Loss 21882294
nsv914554 CNV Loss 21882294
nsv829340 CNV Gain 20364138
dgv5067n71 CNV Loss 21882294
nsv914556 CNV Loss 21882294

Variation tolerance for TYMP Gene

Residual Variation Intolerance Score: 51.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.57; 77.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TYMP Gene

HapMap Linkage Disequilibrium report
TYMP
Human Gene Mutation Database (HGMD)
TYMP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TYMP Gene

Disorders for TYMP Gene

MalaCards: The human disease database

(38) MalaCards diseases for TYMP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial dna depletion syndrome 1
  • mitochondrial neurogastrointestinal encephalopathy syndrome
mitochondrial neurogastrointestinal encephalopathy disease
  • mngie syndrome
mitochondrial neurogastrointestinal encephalomyopathy
  • mngie
intestinal pseudo-obstruction
  • congenital short bowel syndrome
cervical squamous cell carcinoma
  • squamous cell carcinoma of cervix
- elite association - COSMIC cancer census association via MalaCards
Search TYMP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TYPH_HUMAN
  • Mitochondrial DNA depletion syndrome 1, MNGIE type (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. {ECO:0000269 PubMed:12177387, ECO:0000269 PubMed:9924029}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TYMP

Genetic Association Database (GAD)
TYMP
Human Genome Epidemiology (HuGE) Navigator
TYMP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TYMP
genes like me logo Genes that share disorders with TYMP: view

No data available for Genatlas for TYMP Gene

Publications for TYMP Gene

  1. Platelet-derived endothelial cell growth factor has thymidine phosphorylase activity. (PMID: 1590793) Usuki K. … Heldin C.-H. (Biochem. Biophys. Res. Commun. 1992) 2 3 4 23 67
  2. Phase I clinical study of three times a day oral administration of TAS-102 in patients with solid tumors. (PMID: 18798063) Overman M.J. … Abbruzzese J.L. (Cancer Invest. 2008) 23 25 26
  3. The Hollow Fibre Assay as a model for in vivo pharmacodynamics of fluoropyrimidines in colon cancer cells. (PMID: 17179993) Temmink O.H. … Peters G.J. (Br. J. Cancer 2007) 23 25 26
  4. Phase I study to determine the safety and pharmacokinetics of oral administration of TAS-102 in patients with solid tumors. (PMID: 16902987) Hong D.S. … Hoff P.M. (Cancer 2006) 23 25 26
  5. Synergistic cytotoxic interaction in hormone-refractory prostate cancer with the triple combination docetaxel-erlotinib and 5-fluoro-5'-deoxyuridine. (PMID: 16926630) Fischel J.L. … Milano G. (Anticancer Drugs 2006) 23 25 26

Products for TYMP Gene

Sources for TYMP Gene

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