HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CTPS2
CTP synthase 2
Chromosome X · Xp22.2
NCBI Gene: 56474Ensembl: ENSG00000047230.16HGNC: HGNC:2520UniProt: Q9NRF8
56PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoophidiummitochondrionidentical protein bindingcytoplasmneurodegenerative diseaselaterality defects, autosomal dominantchronic lymphocytic leukemiaosteosarcoma
✦AI Summary

CTPS2 (CTP synthase 2) catalyzes ATP-dependent amination of UTP to produce CTP, a critical precursor for DNA, RNA, and phospholipid synthesis 1. As a rate-limiting enzyme in pyrimidine nucleotide biosynthesis, CTPS2 functions both as an independent enzyme and through direct interaction with its homolog CTPS1, forming homotetramers and large intracellular filament structures called cytoophidia 2. When associated with CTPS2, CTPS1 activity is modulated and becomes more sensitive to product feedback inhibition 2. CTPS2 regulates its enzymatic activity through dynamic polymerization into filaments that switch between active and inactive conformations in response to substrate and product levels, enabling highly cooperative regulation 1. While CTPS1 is essential for embryonic development and highly proliferative tissues, CTPS2 plays a complementary role outside hematopoietic systems 3. In cancer contexts, CTPS2 expression correlates with chemotherapy response: low CTPS2 expression confers 5-fluorouracil resistance in colorectal cancer, whereas EBV-transformed B cells require both CTPS1 and CTPS2 for optimal proliferation 45. These findings position CTPS2 as a potential therapeutic target in malignancies where pyrimidine metabolism is dysregulated.

Sources cited
1
CTPS2 catalyzes CTP synthesis and regulates activity through polymerization into filaments with dynamic switching between active and inactive forms
PMID: 31873303
2
CTPS2 directly interacts with CTPS1 independent of polymerization, modulating CTPS1 enzymatic activity and sensitivity to product feedback
PMID: 40957650
3
CTPS1 is essential for embryonic development and highly proliferative tissues, while CTPS2 has complementary roles outside hematopoietic systems
PMID: 38438357
4
Low CTPS2 expression confers resistance to 5-fluorouracil in colorectal cancer and correlates with lack of survival benefit from 5FU treatment
PMID: 21378502
5
EBV-transformed B cells require both CTPS1 and CTPS2 for proliferation, with double knockout causing stronger phenotypes than single knockouts
PMID: 34281398
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.28Weak
laterality defects, autosomal dominantOpen Targets
0.11Weak
chronic lymphocytic leukemiaOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.03Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
Miyoshi myopathyOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
oligodendrogliomaOpen Targets
0.01Suggestive
astrocytomaOpen Targets
0.01Suggestive
acute lymphoblastic leukemiaOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.01Suggestive
T-cell acute lymphoblastic leukemiaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
B-cell non-Hodgkins lymphomaOpen Targets
0.00Suggestive
Acute LeukemiaOpen Targets
0.00Suggestive
Sezary's diseaseOpen Targets
0.00Suggestive
colorectal cancerOpen Targets
0.00Suggestive
Central Nervous System LymphomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POLR1BProtein interaction100%NME1-NME2Protein interaction96%ITPAProtein interaction95%AK9Protein interaction95%NUDT2Protein interaction94%NME1Protein interaction94%
Tissue Expression6 tissues
Ovary
100%
Brain
80%
Bone Marrow
69%
Liver
60%
Heart
44%
Lung
42%
Gene Interaction Network
Click a node to explore
CTPS2POLR1BNME1-NME2ITPAAK9NUDT2NME1
PROTEIN STRUCTURE
Preparing viewer…
PDB2V4U · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.60Moderately Constrained
pLIⓘ
0.35Tolerant
Observed/Expected LoF0.41 [0.28–0.60]
RankingsWhere CTPS2 stands among ~20K protein-coding genes
  • #8,055of 20,598
    Most Researched56
  • #4,064of 17,882
    Most Constrained (LOEUF)0.60 · top quartile
Genes detectedCTPS2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A novel diabetic foot ulcer diagnostic model: identification and analysis of genes related to glutamine metabolism and immune infiltration.
PMID: 38287255
BMC Genomics · 2024
1.00
2
Inactivation of cytidine triphosphate synthase 1 prevents fatal auto-immunity in mice.
PMID: 38438357
Nat Commun · 2024
0.90
3
CTPS1 is a novel therapeutic target in multiple myeloma which synergizes with inhibition of CHEK1, ATR or WEE1.
PMID: 37898670
Leukemia · 2024
0.80
4
Low cytosine triphosphate synthase 2 expression renders resistance to 5-fluorouracil in colorectal cancer.
PMID: 21378502
Cancer Biol Ther · 2011
0.70
5
Coupled structural transitions enable highly cooperative regulation of human CTPS2 filaments.
PMID: 31873303
Nat Struct Mol Biol · 2020
0.60