CES2 Gene: Carboxylesterase 2
Key enzyme in drug metabolism and lipid processing
Gene Information Card
| Symbol | CES2 |
|---|---|
| Full Name | Carboxylesterase 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 8824 ncbi.nlm.nih.gov/gene/8824 |
| Ensembl ID | ENSG00000172831 |
| UniProt ID | O00748 |
| OMIM ID | 605278 |
| HGNC ID | 1866 |
| Aliases | CES2A1, PCE-2, hCE-2, iCE |
Description
CES2 encodes carboxylesterase 2, a serine esterase primarily expressed in the liver and gastrointestinal tract. It hydrolyzes ester- and amide-containing xenobiotics, including prodrugs such as irinotecan, capecitabine, and cocaine, and participates in lipid metabolism by processing triglycerides and cholesteryl esters.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Irinotecan toxicity | Reduced CES2 activity leads to impaired SN-38 inactivation, increasing gastrointestinal and hematologic toxicity | ClinVar, PMID: 15657147 |
| Hypertriglyceridemia | CES2 deficiency may alter triglyceride hydrolysis, contributing to elevated plasma triglycerides | OMIM, PMID: 23064987 |
| Colorectal cancer | CES2 expression influences response to irinotecan-based chemotherapy; low expression associated with poor outcome | COSMIC, PMID: 19258504 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 45.2 | High |
| Small intestine | 28.7 | High |
| Colon | 12.3 | Medium |
| Kidney | 8.1 | Medium |
| Lung | 3.5 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 62.4 | Hepatocellular carcinoma cell line |
| Caco-2 | 35.1 | Colorectal adenocarcinoma cell line |
| HT-29 | 18.9 | Colorectal adenocarcinoma cell line |
| A549 | 4.2 | Lung carcinoma cell line |
| MCF7 | 1.8 | Breast adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | 0.02% (gnomAD) | Reduced catalytic activity; associated with irinotecan sensitivity |
| c.424G>A (p.Gly142Arg) | Missense | 0.01% (gnomAD) | Decreased enzyme stability and activity |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression; potential null allele |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg34Trp, p.Gly142Arg) reduce hydrolytic activity toward ester substrates, leading to decreased prodrug activation and altered drug clearance.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CES2.
Dominant Negative (DN)
No evidence of dominant-negative effects; CES2 functions as a monomer.
View complete mutation data：
Gene Ontology (GO)
| • carboxylesterase activity (GO:0004091) | • carboxylic ester hydrolase activity (GO:0052689) |
| • response to toxic substance (GO:0009636) | • glucose homeostasis (GO:0042593) |
| • lipid metabolic process (GO:0006629) |
Pathways
• REACT:111045 – Irinotecan metabolism
• REACT:111046 – Capecitabine metabolism
• REACT:111047 – Cocaine metabolism
• REACT:111048 – Triglyceride catabolism
Protein Summary
Carboxylesterase 2 (CES2) is a 60 kDa monomeric serine esterase localized to the endoplasmic reticulum and cytosol. It contains a catalytic triad (Ser228, Glu354, His468) and preferentially hydrolyzes substrates with small alcohol groups and large acyl groups. CES2 is critical for the activation of ester prodrugs and detoxification of environmental esters. Its expression is regulated by nuclear receptors including HNF4α and PXR.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CES2 Knockout HEK293 Cell Line | EDJ-KQ6374 | Human | 8824 | Details Get a Quote |
| CES2 Knockout A-549 Cell Line | EDJ-KQ30366 | Human | 8824 | Details Get a Quote |
| CES2 Knockout HCT 116 Cell Line | EDJ-KQ30367 | Human | 8824 | Details Get a Quote |
| CES2 Knockout HeLa Cell Line | EDJ-KQ30368 | Human | 8824 | Details Get a Quote |
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