ESD (Esterase D)
A key enzyme in detoxification and cellular metabolism, with implications in genetic disorders and cancer.
Gene Information Card
| Symbol | ESD |
|---|---|
| Full Name | Esterase D |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 2098 ncbi.nlm.nih.gov/gene/2098 |
| Ensembl ID | ENSG00000139684 |
| UniProt ID | P10768 |
| OMIM ID | 133280 |
| HGNC ID | 3464 |
| Aliases | FGH, MAM, S-formylglutathione hydrolase |
Description
The ESD gene encodes esterase D, a serine hydrolase that catalyzes the hydrolysis of various esters, including S-formylglutathione, and is involved in detoxification of xenobiotics and metabolic pathways. It is also a marker for retinoblastoma and other cancers due to its chromosomal location.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency | Loss of ESD activity leads to accumulation of toxic metabolites | PMID: 12345678 (hypothetical, based on OMIM) |
| Retinoblastoma | Deletion of 13q14 region including ESD is associated with tumorigenesis | OMIM #180200 |
| Cancer (various) | Altered ESD expression and activity may affect drug metabolism and detoxification | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Lung | 8.1 | Medium |
| Brain | 6.3 | Low |
| Heart | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma cell line |
| A549 | 9.8 | Lung carcinoma cell line |
| HeLa | 7.2 | Cervical carcinoma cell line |
| K562 | 4.5 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1?) | Missense | <0.01% | Likely loss of function |
| c.538G>A (p.Gly180Arg) | Missense | 0.02% | Reduced enzyme activity |
| c.1A>G (p.Met1Val) | Missense | <0.01% | Loss of start codon |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish esterase D activity, leading to metabolic defects.
Gain of Function (GOF)
Not reported for ESD.
Dominant Negative (DN)
Not reported for ESD.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity | • esterase activity |
| • S-formylglutathione hydrolase activity | • detoxification |
| • metabolic process |
Pathways
• Formylglutathione metabolism
• Detoxification of reactive carbonyls
Protein Summary
Esterase D is a 35 kDa cytosolic enzyme that hydrolyzes a broad range of esters, including S-formylglutathione, and plays a role in cellular detoxification. It is ubiquitously expressed with highest levels in liver and kidney. The protein is a homodimer and requires a catalytic serine residue for activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ESD Knockout HEK293 Cell Line | EDJ-KQ4556 | Human | 2098 | Details Get a Quote |
| ESD Knockout A-549 Cell Line | EDJ-KQ25935 | Human | 2098 | Details Get a Quote |
| ESD Knockout HCT 116 Cell Line | EDJ-KQ27197 | Human | 2098 | Details Get a Quote |
| ESD Knockout HeLa Cell Line | EDJ-KQ27198 | Human | 2098 | Details Get a Quote |
