DPEP2: Dipeptidase 2 – Function, Expression, and Clinical Relevance
A comprehensive biomedical overview of the DPEP2 gene, including its genomic context, protein function, tissue expression, and associated diseases.
Gene Information Card
| Symbol | DPEP2 |
|---|---|
| Full Name | Dipeptidase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 64174 ncbi.nlm.nih.gov/gene/64174 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q9H4A9 |
| OMIM ID | 617140 |
| HGNC ID | 26419 |
| Aliases | MBD2, DPEP2A, DPEP2B |
Description
DPEP2 (dipeptidase 2) encodes a membrane-bound zinc metalloenzyme that hydrolyzes dipeptides, particularly those with a C-terminal cysteine or cystine. It is expressed in kidney, lung, and small intestine, and plays a role in glutathione metabolism and leukotriene degradation. The enzyme is anchored to the plasma membrane via a glycosylphosphatidylinositol (GPI) linkage.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal cell carcinoma | Altered DPEP2 expression may affect peptide metabolism in renal tissues. | Expression profiling studies (NCBI Gene) |
| Lung cancer | Potential role in modulating inflammatory peptide levels in the tumor microenvironment. | Expression data from GTEx and TCGA (NCBI) |
| Cystinuria | Impaired dipeptidase activity could contribute to cystine stone formation. | Inferred from functional homology to DPEP1 (OMIM) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 45.2 | High |
| Lung | 28.7 | Medium |
| Small intestine | 22.1 | Medium |
| Liver | 8.3 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | Moderate expression |
| A549 (lung) | 18.3 | Moderate expression |
| HepG2 (liver) | 5.1 | Low expression |
| Caco-2 (intestinal) | 20.4 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional impact |
| c.1024G>A (p.Val342Met) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity (GO:0016787) | • metallopeptidase activity (GO:0008237) |
| • zinc ion binding (GO:0008270) | • proteolysis (GO:0006508) |
| • integral component of membrane (GO:0016021) | • response to copper ion (GO:0046688) |
Pathways
• Leukotriene degradation (Reactome: R-HSA-2142690)
• Glutathione metabolism (KEGG: hsa00480)
• Peptide hormone metabolism (Reactome: R-HSA-422085)
Protein Summary
DPEP2 is a 468-amino-acid membrane-bound dipeptidase with a GPI anchor. It belongs to the peptidase M19 family and preferentially hydrolyzes dipeptides with a C-terminal cysteine or cystine. The protein is expressed on the brush border of renal proximal tubules and intestinal epithelium, where it participates in the final stages of peptide digestion and in the metabolism of glutathione conjugates and leukotrienes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DPEP2 Knockout HEK293 Cell Line | EDJ-KQ11227 | Human | 64174 | Details Get a Quote |
| DPEP2NB Knockout HEK293 Cell Line | EDJ-KQ13202 | Human | 100131303 | Details Get a Quote |
| DPEP2 Knockout HeLa Cell Line | EDJ-KQ57039 | Human | 64174 | Details Get a Quote |
| DPEP2 Knockout A-549 Cell Line | EDJ-KQ65546 | Human | 64174 | Details Get a Quote |
| DPEP2 Knockout HCT 116 Cell Line | EDJ-KQ73978 | Human | 64174 | Details Get a Quote |
