CNDP2
Chr 18carnosine dipeptidase 2
Also known as: CN2, CPGL, HEL-S-13, HsT2298, PEPA
This gene encodes a nonspecific dipeptidase that hydrolyzes peptide bonds in dipeptides, particularly threonyl dipeptides and cysteinylglycine (an intermediate in glutathione metabolism), and also metabolizes N-lactoyl-amino acids. Mutations cause carnosinase deficiency 2, an autosomal recessive disorder characterized by elevated carnosine levels in cerebrospinal fluid. The gene is not highly constrained against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
280 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 145 | 0 | 145 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 0 | 76 | 22 | 0 | 98 |
Likely Benign | 0 | 2 | 3 | 2 | 7 |
Benign | 0 | 1 | 2 | 0 | 3 |
| Total | 0 | 79 | 178 | 2 | 259 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CNDP2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools