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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PENK
proenkephalin
Chromosome 8 · 8q12.1
NCBI Gene: 5179Ensembl: ENSG00000181195.12HGNC: HGNC:8831UniProt: P01210
76PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sensory perception of itchreceptor ligand activityneuropeptide signaling pathwayneuronal cell bodytype 2 diabetes mellitussmoking initiationdiabetes mellitussubstance-related disorder
✦AI Summary

PENK (proenkephalin) is a neuropeptide precursor gene located on chromosome 8 that encodes opioid peptides involved in pain and stress regulation. As a member of the opioid/orphanin gene family alongside POMC, PDYN, and PNOC 1, PENK functions through G protein-coupled opioid receptor signaling pathways and is expressed in diverse neural tissues including the hypothalamic paraventricular nucleus, where it modulates neuroendocrine and autonomic functions 2. PENK expression is sexually dimorphic in neuropathic pain states, with elevated PENK levels detected in female dorsal root ganglia associated with neuropathic pain, suggesting sex-specific mechanisms in pain processing 3. Clinically, PENK methylation serves as a noninvasive biomarker for early bladder cancer detection, demonstrating 86.5% sensitivity and 92.5% specificity for high-grade and advanced tumors 4, with superior performance compared to conventional urinary tests 5. Additionally, plasma proenkephalin concentrations show diagnostic efficacy above 0.70 for predicting persistent acute kidney injury, though with limited validation studies 6. Reduced PENK expression characterizes invasive non-functional pituitary neuroendocrine tumors, suggesting a tumor-suppressive role 7. These findings position PENK as both a physiological regulator of pain and neuroendocrine function and a promising molecular biomarker for cancer and kidney disease.

Sources cited
1
PENK is a member of the opioid/orphanin gene family alongside POMC, PDYN, and PNOC precursors
PMID: 31421696
2
PENK is expressed in the hypothalamic paraventricular nucleus with receptors identified in the dorsal motor nucleus of the vagus, indicating roles in neuroendocrine signaling
PMID: 38281730
3
PENK expression is increased in female dorsal root ganglia associated with neuropathic pain, showing sex-dimorphic pain mechanisms
PMID: 35867896
4
PENK methylation as a urinary biomarker shows 86.5% sensitivity and 92.5% specificity for detecting high-grade and advanced bladder cancer
PMID: 36403035
5
PENK methylation urinary test shows superior sensitivity (89.2%) for high-grade or invasive bladder cancer compared to NMP22 and urine cytology
PMID: 39883469
6
Plasma proenkephalin shows diagnostic efficacy above 0.70 for predicting persistent acute kidney injury but was not subjected to meta-analysis due to limited studies
PMID: 39127297
7
Reduced PENK expression is an important molecular feature of invasive non-functional pituitary neuroendocrine tumors and may inhibit tumor development
PMID: 40024300
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.43Moderate
smoking initiationOpen Targets
0.28Weak
diabetes mellitusOpen Targets
0.27Weak
substance-related disorderOpen Targets
0.20Weak
brain aneurysmOpen Targets
0.17Weak
diabetic ketoacidosisOpen Targets
0.16Weak
neoplasmOpen Targets
0.09Suggestive
gastrointestinal stromal tumorOpen Targets
0.08Suggestive
acute kidney injuryOpen Targets
0.08Suggestive
Townes-Brocks syndromeOpen Targets
0.06Suggestive
chronic kidney diseaseOpen Targets
0.05Suggestive
breast carcinomaOpen Targets
0.05Suggestive
infectionOpen Targets
0.05Suggestive
dilated cardiomyopathyOpen Targets
0.05Suggestive
Parkinson diseaseOpen Targets
0.05Suggestive
Cognitive impairmentOpen Targets
0.05Suggestive
cannabis dependenceOpen Targets
0.05Suggestive
type 1 diabetes mellitusOpen Targets
0.04Suggestive
strokeOpen Targets
0.04Suggestive
SepsisOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
OGFRProtein interaction99%PDYNProtein interaction98%POMCProtein interaction97%SSTProtein interaction95%TAC1Protein interaction95%KNG1Protein interaction94%
Tissue Expression6 tissues
Ovary
100%
Brain
19%
Heart
12%
Lung
9%
Liver
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PENKOGFRPDYNPOMCSSTTAC1KNG1
PROTEIN STRUCTURE
Preparing viewer…
PDB5E33 · 1.84 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.39LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.99 [0.72–1.39]
RankingsWhere PENK stands among ~20K protein-coding genes
  • #6,276of 20,598
    Most Researched76
  • #14,412of 17,882
    Most Constrained (LOEUF)1.39
Genes detectedPENK
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Persistent acute kidney injury biomarkers: A systematic review and meta-analysis.
PMID: 39127297
Clin Chim Acta · 2025
1.00
2
Urinary DNA Methylation Test for Bladder Cancer Diagnosis.
PMID: 39883469
JAMA Oncol · 2025
0.90
3
Evolution of proopiomelanocortin.
PMID: 31421696
Vitam Horm · 2019
0.80
4
Identification and validation of methylated PENK gene for early detection of bladder cancer using urine DNA.
PMID: 36403035
BMC Cancer · 2022
0.70
5
An integrated single-cell RNA-seq atlas of the mouse hypothalamic paraventricular nucleus links transcriptomic and functional types.
PMID: 38281730
J Neuroendocrinol · 2024
0.60