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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CPD
carboxypeptidase D
Chromosome 17 · 17q11.2
NCBI Gene: 1362Ensembl: ENSG00000108582.13HGNC: HGNC:2301UniProt: O75976
106PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membraneextracellular exosomemetallocarboxypeptidase activitypeptide metabolic processneurodegenerative diseaseestrogen-receptor positive breast cancermental or behavioural disorderneuroinflammatory disorder
✦AI Summary

Carboxypeptidase D (CPD) is a metallocarboxypeptidase enzyme with critical roles in peptide metabolism and protein processing. CPD localizes to sensory epithelium and nerve cells in the mouse cochlea, where its enzymatic activity is crucial for nitric oxide (NO) production through arginine processing 1. The enzyme's function is essential for hearing, as CPD deficiency leads to decreased levels of arginine, NO, and cGMP in patient-derived fibroblasts, triggering endoplasmic reticulum stress-mediated responses 1. Mechanistically, CPD processes arginine to support the NO signaling pathway, and silencing of Cpd in organotypic mouse cochlea cultures results in increased apoptosis 1. Disease relevance is significant, as three distinct missense variants in CPD affecting the catalytically active CP domain 2 have been identified in individuals with congenital deafness from unrelated families 1. Additionally, rare protein-altering CPD variants show enrichment in individuals with hearing loss 1. Clinically, CPD-related hearing loss represents a treatable condition, as Drosophila models of CPD deficiency with auditory defects can be partially rescued by supplementation with arginine or sildenafil, a cGMP enhancer, highlighting the NO signaling pathway as a promising therapeutic target 1.

Sources cited
1
CPD localizes to cochlear sensory epithelium and nerve cells, processes arginine for NO production, and its deficiency causes congenital hearing loss treatable with arginine or sildenafil supplementation
PMID: 41026541
⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.35Weak
estrogen-receptor positive breast cancerOpen Targets
0.29Weak
mental or behavioural disorderOpen Targets
0.28Weak
neuroinflammatory disorderOpen Targets
0.27Weak
breast cancerOpen Targets
0.20Weak
breast neoplasmOpen Targets
0.20Weak
mathematical abilityOpen Targets
0.08Suggestive
ovarian dysfunctionOpen Targets
0.06Suggestive
Familial progressive cardiac conduction defectOpen Targets
0.05Suggestive
Brugada syndromeOpen Targets
0.05Suggestive
response to statinOpen Targets
0.05Suggestive
Romano-Ward syndromeOpen Targets
0.04Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.04Suggestive
arrhythmogenic right ventricular dysplasia 10Open Targets
0.04Suggestive
coronary artery disease, autosomal dominant 2Open Targets
0.04Suggestive
bundle branch blockOpen Targets
0.04Suggestive
progressive familial heart block, type 1AOpen Targets
0.04Suggestive
MODYOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
dilated cardiomyopathy 1EOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AEBP1Shared pathway100%CPZShared pathway100%SLC26A5Protein interaction92%TGOLN2Protein interaction76%CPMShared pathway75%IGF2RProtein interaction74%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
71%
Lung
70%
Liver
52%
Heart
33%
Ovary
21%
Gene Interaction Network
Click a node to explore
CPDAEBP1CPZSLC26A5TGOLN2CPMIGF2R
PROTEIN STRUCTURE
Preparing viewer…
PDB5AQ0 · 0.95 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.63LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.50 [0.41–0.63]
RankingsWhere CPD stands among ~20K protein-coding genes
  • #4,470of 20,598
    Most Researched106 · top quartile
  • #4,419of 17,882
    Most Constrained (LOEUF)0.63 · top quartile
Genes detectedCPD
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Nurses' continuing professional development: A systematic literature review.
PMID: 33422973
Nurse Educ Pract · 2021
1.00
2
Selective neuronal vulnerability in Parkinson disease.
PMID: 28104909
Nat Rev Neurosci · 2017
0.90
3
Effect of Continuing Professional Development on Health Professionals' Performance and Patient Outcomes: A Scoping Review of Knowledge Syntheses.
PMID: 33332905
Acad Med · 2021
0.80
4
CPD-photolyase adenovirus-mediated gene transfer in normal and DNA-repair-deficient human cells.
PMID: 15252127
J Cell Sci · 2004
0.70
5
Peripheral and central sensation: multisensory orienting and recognition across species.
PMID: 37095006
Trends Cogn Sci · 2023
0.60