DCK Gene (Deoxycytidine Kinase)
Key enzyme in nucleoside metabolism and chemotherapy activation
Gene Information Card
| Symbol | DCK |
|---|---|
| Full Name | Deoxycytidine Kinase |
| Gene Type | Protein coding |
| Chromosomal Location | 4q13.3-q21.1 |
| NCBI Gene ID | 1633 ncbi.nlm.nih.gov/gene/1633 |
| Ensembl ID | ENSG00000156136 |
| UniProt ID | P27707 |
| OMIM ID | 125450 |
| HGNC ID | 2704 |
| Aliases | dCK, MGC117395 |
Description
The DCK gene encodes deoxycytidine kinase, a key enzyme in the nucleoside salvage pathway that phosphorylates deoxyribonucleosides (deoxycytidine, deoxyguanosine, deoxyadenosine) to their monophosphate forms. This enzyme is essential for the activation of several nucleoside analog prodrugs used in chemotherapy, including cytarabine, gemcitabine, and fludarabine. Deficiency or mutations in DCK can lead to altered drug sensitivity and resistance in cancer therapy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency due to DCK deficiency | Loss of DCK function impairs deoxyribonucleoside salvage, leading to mitochondrial DNA depletion and immune dysfunction | OMIM #125450 |
| Acute myeloid leukemia (AML) | Reduced DCK expression or activity correlates with resistance to cytarabine-based chemotherapy | ClinVar, COSMIC |
| Chronic lymphocytic leukemia (CLL) | Low DCK levels associated with fludarabine resistance | ClinVar |
| Pancreatic cancer | DCK mutations or downregulation linked to gemcitabine resistance | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Bone marrow | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Liver | 6.3 | Low |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.3 | High expression |
| HL-60 (leukemia) | 14.1 | High expression |
| HeLa (cervical) | 8.2 | Medium expression |
| A549 (lung) | 5.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.364C>T (p.Arg122*) | Nonsense | <0.1% | Loss of function, associated with immunodeficiency |
| c.166G>A (p.Glu56Lys) | Missense | <0.1% | Reduced enzyme activity, drug resistance |
| c.233A>G (p.Asn78Ser) | Missense | <0.1% | Impaired substrate binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish kinase activity, leading to nucleoside salvage deficiency and chemotherapy resistance.
Gain of Function (GOF)
Not reported for DCK.
Dominant Negative (DN)
Not reported for DCK.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Nucleoside salvage pathway (Reactome: R-HSA-73621)
• Pyrimidine metabolism (KEGG: hsa00240)
• Purine metabolism (KEGG: hsa00230)
• Cytarabine pathway (PharmGKB: PA165817542)
Protein Summary
Deoxycytidine kinase (dCK) is a 260-amino acid protein that catalyzes the phosphorylation of deoxycytidine, deoxyguanosine, and deoxyadenosine using ATP as a phosphate donor. It is a homodimer localized primarily in the nucleus and cytoplasm. dCK is critical for the activation of nucleoside analog drugs; its deficiency is a major mechanism of resistance in hematologic malignancies and solid tumors. The enzyme also plays a role in maintaining mitochondrial deoxyribonucleotide pools.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCK Knockout HEK293 Cell Line | EDJ-KQ4426 | Human | 1633 | Details Get a Quote |
| ADCK5 Knockout HEK293 Cell Line | EDJ-KQ5403 | Human | 203054 | Details Get a Quote |
| ADCK2 Knockout HEK293 Cell Line | EDJ-KQ10678 | Human | 90956 | Details Get a Quote |
| ADCK1 Knockout HEK293 Cell Line | EDJ-KQ12286 | Human | 57143 | Details Get a Quote |
| DCK Knockout A-549 Cell Line | EDJ-KQ26962 | Human | 1633 | Details Get a Quote |
| DCK Knockout HCT 116 Cell Line | EDJ-KQ26963 | Human | 1633 | Details Get a Quote |
| DCK Knockout HeLa Cell Line | EDJ-KQ26964 | Human | 1633 | Details Get a Quote |
| ADCK2 Knockout A-549 Cell Line | EDJ-KQ38209 | Human | 90956 | Details Get a Quote |
| ADCK2 Knockout HeLa Cell Line | EDJ-KQ38210 | Human | 90956 | Details Get a Quote |
| ADCK1 Knockout A-549 Cell Line | EDJ-KQ41093 | Human | 57143 | Details Get a Quote |
| ADCK1 Knockout HCT 116 Cell Line | EDJ-KQ41094 | Human | 57143 | Details Get a Quote |
| ADCK1 Knockout HeLa Cell Line | EDJ-KQ41095 | Human | 57143 | Details Get a Quote |
| ADCK5 Knockout A-549 Cell Line | EDJ-KQ28554 | Human | 203054 | Details Get a Quote |
| ADCK5 Knockout HCT 116 Cell Line | EDJ-KQ28555 | Human | 203054 | Details Get a Quote |
| ADCK5 Knockout HeLa Cell Line | EDJ-KQ28556 | Human | 203054 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
