CBR3: Carbonyl Reductase 3
A key enzyme in the short-chain dehydrogenase/reductase superfamily involved in drug metabolism and oxidative stress response.
Gene Information Card
| Symbol | CBR3 |
|---|---|
| Full Name | Carbonyl Reductase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.12 |
| NCBI Gene ID | 874 ncbi.nlm.nih.gov/gene/874 |
| Ensembl ID | ENSG00000159216 |
| UniProt ID | O75828 |
| OMIM ID | 603608 |
| HGNC ID | 1549 |
| Aliases | SDR21C2, hCBR3 |
Description
CBR3 (carbonyl reductase 3) encodes a monomeric NADPH-dependent oxidoreductase belonging to the short-chain dehydrogenase/reductase (SDR) superfamily. The enzyme catalyzes the reduction of carbonyl compounds, including quinones and prostaglandins, and plays a role in drug metabolism and protection against oxidative stress. CBR3 is highly expressed in the liver, kidney, and heart, and its activity influences the metabolism of anthracycline chemotherapeutics such as doxorubicin.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular Disease | CBR3 polymorphisms alter doxorubicin metabolism, increasing risk of cardiotoxicity. | PMID: 17906286 |
| Breast Cancer | CBR3 expression is upregulated in breast tumors and associated with poor prognosis. | PMID: 23056437 |
| Acute Myeloid Leukemia | CBR3 variants influence response to anthracycline-based chemotherapy. | PMID: 23555330 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Medium |
| Lung | 4.2 | Low |
| Brain | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 9.7 | Embryonic kidney cells |
| MCF7 | 7.4 | Breast cancer cell line |
| K562 | 5.1 | Chronic myeloid leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1056892 (V244M) | Missense | 0.15 (global) | Reduced enzyme activity; associated with doxorubicin cardiotoxicity |
| rs9024 (C4Y) | Missense | 0.02 | Altered substrate specificity |
| rs8133052 | Intronic | 0.25 | Associated with altered CBR3 expression |
Mutation functional classification
Loss of Function (LOF)
rs1056892 (V244M) reduces catalytic efficiency for carbonyl substrates, impairing detoxification of anthracyclines.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
Not described for CBR3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:R-HSA-211981 - Xenobiotics
• REACT:R-HSA-156590 - Glutathione conjugation
• REACT:R-HSA-211945 - Phase I - Functionalization of compounds
Protein Summary
Carbonyl reductase 3 (CBR3) is a 277-amino acid monomeric enzyme (UniProt O75828) that uses NADPH to reduce a wide range of carbonyl compounds, including quinones, prostaglandins, and anthracyclines. The protein is predominantly cytosolic and expressed in tissues with high metabolic activity. CBR3 shares 78% sequence identity with CBR1 but has distinct substrate specificity. Its role in doxorubicin metabolism links genetic variants to cardiotoxicity risk in cancer patients.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CBR3 Knockout HEK293 Cell Line | EDJ-KQ2986 | Human | 874 | Details Get a Quote |
| CBR3 Knockout A-549 Cell Line | EDJ-KQ24165 | Human | 874 | Details Get a Quote |
| CBR3 Knockout HCT 116 Cell Line | EDJ-KQ24166 | Human | 874 | Details Get a Quote |
| CBR3 Knockout HeLa Cell Line | EDJ-KQ22796 | Human | 874 | Details Get a Quote |
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