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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PEPD
peptidase D
Chromosome 19 Β· 19q13.11
NCBI Gene: 5184Ensembl: ENSG00000124299.17HGNC: HGNC:8840UniProt: A0A140VJR2
137PubMed Papers
21Diseases
0Drugs
78Pathogenic Variants
FUNCTIONAL ROLE
Protease
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
proline dipeptidase activityprotein bindingextracellular exosomenegative regulation of programmed cell deathprolidase deficiencyobesitytype 2 diabetes mellitusintelligence
✦AI Summary

PEPD (peptidase D) is a dipeptidase that catalyzes hydrolysis of dipeptides with C-terminal prolyl or hydroxyprolyl residues, with Gly-Pro as the preferred substrate 1. The enzyme plays a critical role in collagen metabolism by degrading proline-containing dipeptides 2, addressing the high iminoacid content in collagen 3. Mechanistically, PEPD functions both intracellularly for collagen turnover and extracellularly as a secreted protein. In obesity, decreased intracellular PEPD activity in adipose tissue macrophages paradoxically occurs alongside increased systemic PEPD secretion 2. Secreted PEPD enhances fibro-inflammatory responses via EGFR signaling, promoting adipose tissue fibrosis and insulin resistance 2. PEPD is also implicated in insulin-glucose signaling pathways that affect cardiometabolic outcomes 4. Clinically, PEPD shows relevance to multiple conditions. Prolidase deficiency, caused by PEPD gene mutations, is a rare autosomal recessive disorder characterized by skin lesions, respiratory infections, immunodeficiency, and cognitive impairment 5. Additionally, PEPD levels continuously decrease before Parkinson's disease onset and are incorporated into predictive biomarker models for PD risk stratification 6, suggesting emerging importance as a disease biomarker beyond traditional collagen metabolism.

Sources cited
1
PEPD catalyzes hydrolysis of dipeptides with C-terminal prolyl/hydroxyprolyl residues; Gly-Pro is preferred substrate
PMID: 17081196
2
PEPD critical for collagen turnover; decreased intracellular activity but increased systemic levels in obesity; secreted PEPD promotes fibro-inflammation via EGFR signaling
PMID: 35478031
3
Collagen contains high levels of iminoacids
PMID: 2925654
4
PEPD involved in insulin-glucose signaling affecting cardiometabolic risk uncoupling from adiposity
PMID: 33619380
5
Prolidase deficiency caused by homozygous PEPD mutations; characterized by skin lesions, respiratory infections, immunodeficiency, and cognitive impairment
PMID: 37023562
6
PEPD levels continuously decrease before Parkinson's disease onset; incorporated into predictive biomarker model for PD risk
PMID: 39979637
Disease Associationsβ“˜21
prolidase deficiencyOpen Targets
0.82Strong
obesityOpen Targets
0.38Weak
type 2 diabetes mellitusOpen Targets
0.33Weak
intelligenceOpen Targets
0.32Weak
Abnormality of the skeletal systemOpen Targets
0.31Weak
malunion fractureOpen Targets
0.31Weak
diabetes mellitusOpen Targets
0.31Weak
megaconial type congenital muscular dystrophyOpen Targets
0.27Weak
male reproductive system diseaseOpen Targets
0.23Weak
smoking initiationOpen Targets
0.21Weak
metabolic syndromeOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
Abruptio PlacentaeOpen Targets
0.18Weak
gestational diabetesOpen Targets
0.16Weak
alcohol drinkingOpen Targets
0.15Weak
antipsychotic drug related weight gainOpen Targets
0.14Weak
neoplasmOpen Targets
0.10Weak
psoriasisOpen Targets
0.10Suggestive
coronary artery diseaseOpen Targets
0.09Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.09Suggestive
Prolidase deficiencyUniProt
Pathogenic Variants78
NM_000285.4(PEPD):c.977G>A (p.Trp326Ter)Pathogenic
not provided|Prolidase deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 326
NM_000285.4(PEPD):c.692_694del (p.Tyr231del)Pathogenic
Prolidase deficiency|not provided|PEPD-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 231
NM_000285.4(PEPD):c.826G>A (p.Asp276Asn)Pathogenic
Prolidase deficiency|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 276
NM_000285.4(PEPD):c.1244T>A (p.Ile415Asn)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 415
NM_000285.4(PEPD):c.2T>C (p.Met1Thr)Pathogenic
not provided|Prolidase deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 1
NM_000285.4(PEPD):c.1103T>G (p.Leu368Arg)Pathogenic
Prolidase deficiency|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 368
NM_000285.4(PEPD):c.550C>T (p.Arg184Ter)Pathogenic
not provided|Prolidase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 184
NM_000285.4(PEPD):c.1A>G (p.Met1Val)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_000285.4(PEPD):c.418A>T (p.Lys140Ter)Pathogenic
Prolidase deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 140
NM_000285.4(PEPD):c.825del (p.Phe275fs)Pathogenic
Prolidase deficiency|not provided|Megaconial type congenital muscular dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 275
NM_000285.4(PEPD):c.769G>T (p.Gly257Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 257
NM_000285.4(PEPD):c.549-1G>APathogenic
Prolidase deficiency|not provided
β˜…β˜…β˜†β˜†2025
NM_000285.4(PEPD):c.504-1G>APathogenic
Prolidase deficiency|not provided|Thyroid cancer, nonmedullary, 1|Nonpapillary renal cell carcinoma
β˜…β˜…β˜†β˜†2025
NM_000285.4(PEPD):c.2T>G (p.Met1Arg)Pathogenic
Prolidase deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_000285.4(PEPD):c.793C>T (p.Arg265Ter)Pathogenic
Prolidase deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 265
NM_000285.4(PEPD):c.833G>A (p.Gly278Asp)Pathogenic
Prolidase deficiency|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 278
NM_000285.4(PEPD):c.634G>C (p.Ala212Pro)Pathogenic
Prolidase deficiency|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 212
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg)Pathogenic
Prolidase deficiency|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 448
NM_000285.4(PEPD):c.819-1G>ALikely pathogenic
not provided|Prolidase deficiency
β˜…β˜…β˜†β˜†2023
NM_000285.4(PEPD):c.818+2T>GLikely pathogenic
PEPD-related disorder|not provided
β˜…β˜…β˜†β˜†2023
View on ClinVar β†—
Related Genes
APOC2Protein interaction80%APOC1Protein interaction78%CNDP2Protein interaction72%DPP9Shared pathway50%DPP8Shared pathway50%XPNPEP1Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Brain
53%
Lung
32%
Ovary
27%
Heart
19%
Bone Marrow
11%
Gene Interaction Network
Click a node to explore
PEPDAPOC2APOC1CNDP2DPP9DPP8XPNPEP1
PROTEIN STRUCTURE
Preparing viewer…
PDB6SRE Β· 1.39 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.13LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.83 [0.61–1.13]
RankingsWhere PEPD stands among ~20K protein-coding genes
  • #3,387of 20,598
    Most Researched137 Β· top quartile
  • #948of 5,498
    Most Pathogenic Variants78 Β· top quartile
  • #11,697of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedPEPD
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Large-scale proteomic analyses of incident Parkinson's disease reveal new pathophysiological insights and potential biomarkers.
PMID: 39979637
Nat Aging Β· 2025
1.00
2
Habitual daily intake of a sweet and fatty snack modulates reward processing in humans.
PMID: 36958330
Cell Metab Β· 2023
0.90
3
Soft Drink Consumption and Depression Mediated by Gut Microbiome Alterations.
PMID: 40991280
JAMA Psychiatry Β· 2025
0.80
4
PMID: 26110198
0.70
5
Dysregulation of macrophage PEPD in obesity determines adipose tissue fibro-inflammation and insulin resistance.
PMID: 35478031
Nat Metab Β· 2022
0.60