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.

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.

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AICDA Knockout HCT 116 Cell Line EDJ-KQ73780 Human 57379 Details Get a Quote
Displaying Records 1 To 12 Of 12 Records
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