CNDP2
Cytosolic non-specific dipeptidase 2
Gene Information Card
| Symbol | CNDP2 |
|---|---|
| Full Name | CNDP dipeptidase 2 (metallopeptidase M20 family) |
| Gene Type | protein-coding |
| Chromosomal Location | 18q22.3 |
| NCBI Gene ID | 55748 ncbi.nlm.nih.gov/gene/55748 |
| Ensembl ID | ENSG00000134333 |
| UniProt ID | Q96KP4 |
| OMIM ID | 609973 |
| HGNC ID | 24279 |
| Aliases | CN2, CPGL, PEPA, FLJ11581, MGC138340 |
Description
CNDP2 encodes a cytosolic non-specific dipeptidase that belongs to the M20 metallopeptidase family. The enzyme hydrolyzes a wide range of dipeptides, including carnosine, and is involved in amino acid metabolism and cellular homeostasis. It is widely expressed in human tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Carnosinemia | Deficiency in CNDP2 leads to accumulation of carnosine in urine and plasma, associated with neurological symptoms. | OMIM 609973 |
| Diabetic nephropathy | Polymorphisms in CNDP2 have been linked to susceptibility to diabetic kidney disease. | ClinVar, NCBI Gene |
| Cancer (various) | Altered expression of CNDP2 has been observed in several cancers, potentially affecting tumor metabolism. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Liver | 10.2 | High |
| Brain | 8.1 | Medium |
| Heart | 7.4 | Medium |
| Lung | 6.8 | Medium |
| Skeletal muscle | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HepG2 | 11.3 | High expression |
| SH-SY5Y | 7.8 | Medium expression |
| A549 | 6.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Arg82Gln) | Missense | 0.001% (gnomAD) | Reduced enzyme activity |
| c.458C>T (p.Thr153Ile) | Missense | 0.002% (gnomAD) | Unknown functional effect |
| c.673delC | Frameshift | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of dipeptidase activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative effects have been described.
View complete mutation data：
Gene Ontology (GO)
| • carnosine dipeptidase activity | • dipeptidase activity |
| • metal ion binding | • cytosol |
| • proteolysis |
Pathways
• Carnosine metabolism
• Dipeptide hydrolysis
• Amino acid metabolism
Protein Summary
CNDP2 encodes a 475-amino acid cytosolic dipeptidase that functions as a homodimer. It catalyzes the hydrolysis of dipeptides, particularly carnosine (beta-alanyl-L-histidine), and requires zinc ions for activity. The protein is involved in cellular amino acid recycling and may play a role in protection against oxidative stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNDP2 Knockout HEK293 Cell Line | EDJ-KQ12963 | Human | 55748 | Details Get a Quote |
| CNDP2 Knockout A-549 Cell Line | EDC90548 | Human | 55748 | Details Get a Quote |
| CNDP2 Knockout HCT 116 Cell Line | EDJ-KQ42176 | Human | 55748 | Details Get a Quote |
| CNDP2 Knockout HeLa Cell Line | EDJ-KQ42177 | Human | 55748 | Details Get a Quote |
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