TYMS
thymidylate synthetase
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 and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occurring antisense transcript, mitochondrial enolase superfamily member 1 (GeneID:55556), vary inversely when cell-growth progresses from late-log to plateau phase. Polymorphisms in this gene may be associated with etiology of neoplasia, including breast cancer, and response to chemotherapy. [provided by RefSeq, Aug 2017]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2853741 | 18:657,352 | T/C | regulatory region variant | — |
| rs2606241 | 18:657,443 | A/C | regulatory region variant | — |
| rs2853542 | 18:657,685 | G/C | regulatory region variant | — |
| rs910134246 | 18:657,752 | G/T | — | uncertain significance |
| rs188268314 | 18:657,785 | C/T | — | likely benign |
| rs781495898 | 18:657,812 | C/A | — | uncertain significance |
| rs1275814898 | 18:657,827 | G/A | — | uncertain significance |
| rs1446885716 | 18:657,838 | G/A | — | likely benign |
| rs1376079761 | 18:657,878 | A/C | — | likely benign |
| rs2853533 | 18:658,064 | G/T | missense variant | — |
| rs502396 | 18:659,236 | C/T | upstream gene variant | — |
| rs2144258402 | 18:659,694 | G/A | — | uncertain significance |
| rs2853539 | 18:659,829 | A/T | — | — |
| rs28503425 | 18:660,647 | C/A | upstream gene variant | — |
| rs2124616 | 18:661,917 | G/A | upstream gene variant | — |
| rs1001761 | 18:662,103 | G/T | — | — |
| rs2046518776 | 18:662,209 | C/T | — | pathogenic |
| rs773564286 | 18:662,226 | C/G | — | uncertain significance |
| rs3786362 | 18:662,247 | A/G | — | benign |
| rs2847149 | 18:666,371 | G/A | regulatory region variant | — |
| rs8088781 | 18:666,625 | C/T | downstream gene variant | — |
| rs16948305 | 18:668,465 | C/T | downstream gene variant | — |
| rs894600614 | 18:669,097 | A/T | — | uncertain significance |
| rs753757524 | 18:669,171 | G/A | — | likely benign |
| rs2144335968 | 18:669,174 | G/A | — | pathogenic |
| rs202044096 | 18:670,825 | C/T | — | likely benign |
| rs2510075049 | 18:670,845 | T/C | — | uncertain significance |
| rs143415597 | 18:671,433 | C/T | — | likely benign |
| rs12962403 | 18:672,035 | C/T | downstream gene variant | — |
| rs2612100 | 18:672,363 | G/A | downstream gene variant | — |
| rs1059394 | 18:672,792 | C/T | downstream gene variant | — |
| rs1703168604 | 18:672,866 | C/T | — | pathogenic |
| rs699517 | 18:673,016 | C/T | downstream gene variant | — |
| rs2790 | 18:673,086 | A/G | downstream gene variant | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.