CDA (Cytidine Deaminase) Gene
Key enzyme in pyrimidine metabolism and chemoresistance
Gene Information Card
| Symbol | CDA |
|---|---|
| Full Name | Cytidine Deaminase |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.12 |
| NCBI Gene ID | 978 ncbi.nlm.nih.gov/gene/978 |
| Ensembl ID | ENSG00000158825 |
| UniProt ID | P32320 |
| OMIM ID | 123920 |
| HGNC ID | 1712 |
| Aliases | CDD, MGC119561 |
Description
The CDA gene encodes cytidine deaminase, an enzyme that catalyzes the irreversible deamination of cytidine and deoxycytidine to uridine and deoxyuridine, respectively. This enzyme plays a critical role in pyrimidine salvage and metabolism, and is involved in the inactivation of several chemotherapeutic nucleoside analogs such as gemcitabine and cytarabine. Genetic variations in CDA can affect drug efficacy and toxicity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Drug toxicity (gemcitabine, cytarabine) | Reduced CDA activity leads to accumulation of active drug metabolites, increasing toxicity. | ClinVar, NCBI |
| Colorectal cancer | Altered CDA expression may influence response to 5-fluorouracil-based therapy. | NCBI, COSMIC |
| Pancreatic cancer | CDA expression correlates with gemcitabine resistance. | NCBI, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Medium |
| Spleen | 4.7 | Low |
| Lung | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Liver cancer cell line |
| A549 | 3.8 | Lung cancer cell line |
| MCF7 | 1.5 | Breast cancer cell line |
| K562 | 0.9 | Leukemia cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.79A>G (p.Lys27Gln) | SNV | 1-5% | Reduced enzyme activity, increased drug toxicity |
| c.208G>A (p.Ala70Thr) | SNV | <1% | Decreased catalytic activity |
| c.435C>T (p.Ser145Ser) | Synonymous | Common | No known functional effect |
Mutation functional classification
Loss of Function (LOF)
c.79A>G (p.Lys27Gln) reduces catalytic activity, leading to impaired drug detoxification.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data:
Gene Ontology (GO)
| • Cytidine deaminase activity (GO:0004126) | • Zinc ion binding (GO:0008270) |
| • Cytidine metabolic process (GO:0046085) | • Pyrimidine nucleoside salvage (GO:0006213) |
Pathways
• Pyrimidine metabolism (KEGG: hsa00240)
• Drug metabolism – other enzymes (KEGG: hsa00983)
Protein Summary
Cytidine deaminase is a homotetrameric zinc-dependent enzyme that catalyzes the deamination of cytidine and deoxycytidine. It is highly expressed in liver and kidney, and plays a key role in the inactivation of nucleoside analog drugs. Polymorphisms in CDA are associated with altered drug response and toxicity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AICDA Knockout HEK293 Cell Line | EDJ-KQ2587 | Human | 57379 | Details Get a Quote |
| CDA Knockout HEK293 Cell Line | EDJ-KQ4228 | Human | 978 | Details Get a Quote |
| CDADC1 Knockout HEK293 Cell Line | EDJ-KQ9722 | Human | 81602 | Details Get a Quote |
| CDA Knockout HeLa Cell Line | EDJ-KQ25381 | Human | 978 | Details Get a Quote |
| CDA Knockout A-549 Cell Line | EDJ-KQ26693 | Human | 978 | Details Get a Quote |
| CDA Knockout HCT 116 Cell Line | EDJ-KQ26694 | Human | 978 | Details Get a Quote |
| CDADC1 Knockout A-549 Cell Line | EDJ-KQ36533 | Human | 81602 | Details Get a Quote |
| CDADC1 Knockout HCT 116 Cell Line | EDJ-KQ36534 | Human | 81602 | Details Get a Quote |
| CDADC1 Knockout HeLa Cell Line | EDJ-KQ36535 | Human | 81602 | Details Get a Quote |
| AICDA Knockout HeLa Cell Line | EDJ-KQ56831 | Human | 57379 | Details Get a Quote |
| AICDA Knockout A-549 Cell Line | EDJ-KQ65341 | Human | 57379 | Details Get a Quote |
| AICDA Knockout HCT 116 Cell Line | EDJ-KQ73780 | Human | 57379 | Details Get a Quote |
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