DCTD Gene: Deoxycytidylate Deaminase
Essential enzyme in nucleotide metabolism and potential cancer biomarker
Gene Information Card
| Symbol | DCTD |
|---|---|
| Full Name | Deoxycytidylate Deaminase |
| Gene Type | Protein coding |
| Chromosomal Location | 4q35.1 |
| NCBI Gene ID | 1635 ncbi.nlm.nih.gov/gene/1635 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | P32321 |
| OMIM ID | 601300 |
| HGNC ID | 2710 |
| Aliases | dCMP deaminase, MGC117346 |
Description
The DCTD gene encodes deoxycytidylate deaminase, an enzyme that catalyzes the deamination of deoxycytidine monophosphate (dCMP) to deoxyuridine monophosphate (dUMP), a key step in nucleotide metabolism and DNA synthesis. This enzyme is involved in the pyrimidine salvage pathway and is essential for maintaining balanced nucleotide pools. DCTD is also a target for chemotherapeutic agents and its expression is altered in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered DCTD expression affects nucleotide pool balance, influencing cell proliferation and response to chemotherapy. | COSMIC database reports mutations in multiple cancer types; ClinVar lists variants associated with drug response. |
| Thymidine phosphorylase deficiency (mitochondrial neurogastrointestinal encephalopathy) | Indirect association via nucleotide metabolism disruption. | OMIM #601300 notes related metabolic disorders. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 6.1 | Low |
| Brain | 2.4 | Low |
| Testis | 15.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| K562 | 7.8 | Leukemia cell line |
| A549 | 5.4 | Lung cancer cell line |
| MCF7 | 4.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.1% | Reduced enzyme activity |
| c.215C>T | Nonsense | 0.05% | Loss of function |
| c.340G>A | Missense | 0.2% | Altered substrate affinity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or non-functional enzyme, impairing dCMP deamination.
Gain of Function (GOF)
Not well documented; some missense variants may increase activity but are rare.
Dominant Negative (DN)
No evidence for dominant-negative effects in current literature.
View complete mutation data：
Gene Ontology (GO)
| • dCMP deaminase activity (GO:0004132) | • pyrimidine nucleotide metabolic process (GO:0006220) |
| • cytoplasm (GO:0005737) |
Pathways
• Pyrimidine metabolism (Reactome: R-HSA-500753)
• Nucleotide salvage pathway (KEGG: hsa00240)
Protein Summary
Deoxycytidylate deaminase (EC 3.5.4.12) is a homotetrameric enzyme that converts dCMP to dUMP, providing the substrate for thymidylate synthase. It is allosterically regulated by dCTP and dTTP. The protein is 178 amino acids long and localizes to the cytoplasm. Its activity is critical for DNA replication and repair, and it is a target for anticancer drugs such as gemcitabine.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCTD Knockout HEK293 Cell Line | EDJ-KQ3692 | Human | 1635 | Details Get a Quote |
| DCTD Knockout A-549 Cell Line | EDJ-KQ26965 | Human | 1635 | Details Get a Quote |
| DCTD Knockout HCT 116 Cell Line | EDJ-KQ26967 | Human | 1635 | Details Get a Quote |
| DCTD Knockout HeLa Cell Line | EDJ-KQ26968 | Human | 1635 | Details Get a Quote |
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