Gene Gene information from NCBI Gene database.
Entrez ID 7298
Gene name Thymidylate synthetase
Gene symbol TYMS
Synonyms (NCBI Gene)
DKCDHST422TMSTS
Chromosome 18
Chromosome location 18p11.32
Summary Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using, 10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication an
miRNA miRNA information provided by mirtarbase database.
119
miRTarBase ID miRNA Experiments Reference
MIRT001582 hsa-let-7b-5p pSILAC 18668040
MIRT016485 hsa-miR-193b-3p Microarray 20304954
MIRT025487 hsa-miR-34a-5p Proteomics 21566225
MIRT025487 hsa-miR-34a-5p Proteomics 21566225
MIRT029608 hsa-miR-26b-5p Microarray 19088304
Transcription factors Transcription factors information provided by TRRUST V2 database.
10
Transcription factor Regulation Reference
CHD8 Unknown 19255092
E2F1 Activation 14618416;9748140
E2F1 Unknown 10914714;14679120
ESR1 Unknown 10875244
SP1 Unknown 10875244;9218479
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000900 Function MRNA regulatory element binding translation repressor activity IDA 1924359
GO:0004799 Function Thymidylate synthase activity IBA
GO:0004799 Function Thymidylate synthase activity IDA 8845352, 11278511, 15093541
GO:0004799 Function Thymidylate synthase activity IEA
GO:0004799 Function Thymidylate synthase activity TAS 1924359
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
188350 12441 ENSG00000176890
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04818
Protein name Thymidylate synthase (TS) (TSase) (EC 2.1.1.45)
Protein function Catalyzes the reductive methylation of 2'-deoxyuridine 5'-monophosphate (dUMP) to thymidine 5'-monophosphate (dTMP), using the cosubstrate, 5,10- methylenetetrahydrofolate (CH2H4folate) as a 1-carbon donor and reductant and contributes to the de
PDB 1HVY , 1HW3 , 1HW4 , 1HZW , 1I00 , 1JU6 , 1JUJ , 1YPV , 2ONB , 2RD8 , 2RDA , 3EAW , 3EBU , 3ED7 , 3EDW , 3EF9 , 3EGY , 3EHI , 3EJL , 3GG5 , 3GH0 , 3GH2 , 3H9K , 3HB8 , 3N5E , 3N5G , 3OB7 , 4E28 , 4FGT , 4G2O , 4G6W , 4GD7 , 4GYH , 4H1I , 4JEF , 4KPW , 4O1U , 4O1X , 4UP1 , 5HS3 , 5WRN , 5X4W , 5X4X , 5X4Y , 5X5A , 5X5D , 5X5Q , 5X66 , 5X67 , 5X69 , 6OJU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00303 Thymidylat_synt 31 313 Thymidylate synthase Domain
Sequence
Sequence length 313
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Pyrimidine metabolism
One carbon pool by folate
Metabolic pathways
Nucleotide metabolism
Antifolate resistance
Folate transport and metabolism
  Interconversion of nucleotide di- and triphosphates
G1/S-Specific Transcription
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
31
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Dyskeratosis congenita Pathogenic rs2046518776, rs2144335544, rs2144335824, rs2144335968, rs1703168604 RCV002269393
RCV002269395
RCV002269396
RCV002269397
RCV002269398
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis congenita, digenic Pathogenic rs2046518776, rs2144335544, rs2144335824 RCV002285186
RCV002285188
RCV002285189
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acidosis Lactic Lactic acidosis Pubtator 38098057 Associate
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 17339179, 23336575, 24641398
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 11937185, 12972956, 15797993, 17023046, 17339179, 17454638, 20072153, 20824655, 21643952, 22166040, 22576918, 22838948, 24641398, 25099492, 27957785
View all (3 more)
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 23468971
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 25335113
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10523711, 15284183, 15868929, 16955506, 1732043, 19015148, 19362945, 20515563, 20578072, 21062732, 21321092, 21367480, 22729036, 22996376, 23470290
View all (7 more)
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 11804689, 15284183, 18203297
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 11589301, 1732043, 2537495
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 16242255, 18097560, 18430179
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 15646842, 16218935, 16540728, 19722231, 20515563, 9552053
★☆☆☆☆
Found in Text Mining only