TYMP (thymidine phosphorylase)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1890
Gene name Gene Name - the full gene name approved by the HGNC.
Thymidine phosphorylase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TYMP
Synonyms (NCBI Gene) Gene synonyms aliases
ECGF, ECGF1, MEDPS1, MNGIE, MTDPS1, PDECGF, TP, hPD-ECGF
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.33
Summary Summary of gene provided in NCBI Entrez 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 ha
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(26)
SNP ID Visualize variation Clinical significance Consequence
rs28931613 C>T Pathogenic Coding sequence variant, missense variant
rs121913037 C>T Pathogenic Coding sequence variant, missense variant
rs121913038 C>T Pathogenic Coding sequence variant, missense variant
rs188802138 C>T Uncertain-significance, likely-pathogenic Coding sequence variant, missense variant
rs199901350 G>A,T Uncertain-significance, pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT048951 hsa-miR-92a-3p CLASH 23622248
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
SP1 Unknown 17805539
SP3 Unknown 17805539
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(28)
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0004645 Function 1,4-alpha-oligoglucan phosphorylase activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005829 Component Cytosol IBA
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
131222 3148 ENSG00000025708
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P19971
Protein name Thymidine phosphorylase (TP) (EC 2.4.2.4) (Gliostatin) (Platelet-derived endothelial cell growth factor) (PD-ECGF) (TdRPase)
Protein 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. ; C
PDB 1UOU , 2J0F , 2WK5 , 2WK6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02885 Glycos_trans_3N 37 → 99 Glycosyl transferase family, helical bundle domain Domain
PF00591 Glycos_transf_3 109 → 340 Glycosyl transferase family, a/b domain Family
PF07831 PYNP_C 388 → 462 Pyrimidine nucleoside phosphorylase C-terminal domain Domain
Sequence
Sequence length 482
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Pyrimidine metabolism
Drug metabolism - other enzymes
Metabolic pathways
Nucleotide metabolism
Bladder cancer 		  Pyrimidine salvage
Pyrimidine catabolism
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mitochondrial DNA Depletion Syndrome mitochondrial dna depletion syndrome 1 rs1064792890, rs1064792864, rs786205098, rs765023287, rs1060499534, rs1064792880, rs1054084896, rs1064792891, rs1064792865, rs121913038, rs761608162, rs1064792874, rs1064792881, rs1064792857, rs121913036
View all (53 more)		 N/A
Mitochondrial neurogastrointestinal encephalomyopathy mitochondrial neurogastrointestinal encephalomyopathy rs121913038, rs121913036, rs767245071, rs121913037, rs1603441848, rs149977726, rs1064792878, rs797044454 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Show/Hide Text Mining Associations (124)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 35109843
Adenocarcinoma Associate 8398697
Adenocarcinoma of Lung Associate 11920479, 9052401
Adenoma Pleomorphic Associate 26031756
Anemia Associate 17049588
Arthritis Rheumatoid Associate 12639965, 22534375, 29352846, 35014010
Autism Spectrum Disorder Associate 23275889
Barrett Esophagus Associate 17636545
Bile Duct Neoplasms Associate 20955617
Bone Diseases Associate 27559096