CTPS2: Cytidine Triphosphate Synthase 2 – Key Enzyme in Pyrimidine Biosynthesis
Comprehensive gene card for CTPS2, including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | CTPS2 |
|---|---|
| Full Name | Cytidine triphosphate synthase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 56474 ncbi.nlm.nih.gov/gene/56474 |
| Ensembl ID | ENSG00000101974 |
| UniProt ID | Q9NRF8 |
| OMIM ID | 611473 |
| HGNC ID | 24299 |
| Aliases | CTP synthase 2, CTPS2, CTP synthetase 2 |
Description
CTPS2 encodes cytidine triphosphate synthase 2, an enzyme that catalyzes the ATP-dependent amination of UTP to CTP, a critical step in pyrimidine nucleotide biosynthesis. This enzyme is essential for DNA and RNA synthesis, cell proliferation, and phospholipid metabolism. CTPS2 is one of two human CTP synthase isoforms and is involved in the regulation of intracellular CTP pools.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epithelial ovarian cancer | Overexpression of CTPS2 may support increased pyrimidine synthesis in rapidly dividing tumor cells. | PMID: 25691885 |
| Colorectal cancer | CTPS2 amplification and elevated expression associated with poor prognosis. | PMID: 30397376 |
| Breast cancer | CTPS2 upregulation linked to CTP pool maintenance and chemoresistance. | PMID: 31073040 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.3 | Medium |
| Bone marrow | 7.1 | Medium |
| Brain | 4.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| K562 | 11.4 | Leukemia cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| A549 | 8.1 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Glu349Lys) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.1522C>T (p.Arg508Trp) | Missense | 0.005% (gnomAD) | Potential loss of function |
| c.1690_1691insA (p.Thr564Asnfs*2) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to truncate the protein, likely abolishing CTP synthase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CTPS2.
Dominant Negative (DN)
No evidence for dominant-negative effects; CTPS2 functions as a homotetramer, but dominant-negative mutations have not been characterized.
View complete mutation data：
Gene Ontology (GO)
| • CTP synthase activity (GO:0003883) | • ATP binding (GO:0005524) |
| • pyrimidine nucleotide biosynthetic process (GO:0006221) | • cytoplasm (GO:0005737) |
Pathways
• Pyrimidine metabolism (KEGG: hsa00240)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
CTPS2 is a 586-amino acid protein that forms homotetramers and catalyzes the conversion of UTP to CTP using ATP and glutamine. It contains a glutamine amidotransferase domain and an ATP-binding domain. The enzyme is allosterically regulated by CTP (feedback inhibition) and GTP (activation). CTPS2 is essential for maintaining cellular CTP levels, supporting nucleic acid synthesis and membrane lipid production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTPS2 Knockout HEK293 Cell Line | EDJ-KQ13050 | Human | 56474 | Details Get a Quote |
| CTPS2 Knockout A-549 Cell Line | EDJ-KQ42322 | Human | 56474 | Details Get a Quote |
| CTPS2 Knockout HCT 116 Cell Line | EDJ-KQ42323 | Human | 56474 | Details Get a Quote |
| CTPS2 Knockout HeLa Cell Line | EDJ-KQ42324 | Human | 56474 | Details Get a Quote |
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