HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PNMT
phenylethanolamine N-methyltransferase
Chromosome 17 · 17q12
NCBI Gene: 5409Ensembl: ENSG00000141744.4HGNC: HGNC:9160UniProt: A8MT87
59PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingphenylethanolamine N-methyltransferase activitycytosolcatecholamine biosynthetic processcongestive heart failureneurodegenerative diseasephysical activitychronic rhinosinusitis with nasal polyps
✦AI Summary

PNMT (phenylethanolamine N-methyltransferase) catalyzes the final step of epinephrine biosynthesis, transferring a methyl group from S-adenosyl-L-methionine to norepinephrine 1. The enzyme also methylates other phenylethanolamine substrates including octopamine and normetanephrine 234. PNMT functions primarily in chr17 cells of the adrenal medulla, making the adrenal gland the body's primary epinephrine source 5. A recently identified cardiac subpopulation of PNMT-derived cardiomyocytes suggests broader physiological roles in intra-cardiac adrenergic signaling 6. PNMT expression is regulated by glucocorticoids and transcription factors including Egr-1, AP2, Sp1, and MAZ 5. In pheochromocytomas, PNMT marks kinase-type tumors displaying decreased epinephrine synthesis and neuron-like phenotypes 7. Epinephrine dysregulation via altered PNMT expression associates with blood pressure regulation, respiration, Alzheimer's disease, and post-traumatic stress disorder 89. Promoter methylation of PNMT inversely correlates with catecholamine secretion patterns in pheochromocytomas and paragangliomas, indicating epigenetic control of enzyme expression 10. PNMT represents a candidate gene in essential hypertension pathogenesis 11.

Sources cited
1
PNMT catalyzes transmethylation of norepinephrine to epinephrine using SAM as methyl donor
PMID: 20496117
2
PNMT methylates phenylethanolamine substrates
PMID: 16277617
3
PNMT methylates octopamine
PMID: 16363801
4
PNMT has activity toward phenylethanolamine substrates
PMID: 8812853
5
Adrenal medulla chromaffin cells express PNMT; glucocorticoids and transcription factors (Egr-1, AP2, Sp1, MAZ) regulate PNMT expression
PMID: 12746560
6
PNMT-derived cardiomyocytes represent a cardiac subpopulation with roles in intra-cardiac adrenergic signaling
PMID: 32810421
7
PNMT marks kinase-type pheochromocytomas with decreased epinephrine synthesis and neuron-like phenotypes
PMID: 38407266
8
Epinephrine regulates blood pressure, respiration, and is implicated in Alzheimer's disease and PTSD
PMID: 37467463
9
PNMT catalyzes epinephrine synthesis from norepinephrine; epinephrine regulates blood pressure, respiration, and neurodegeneration
PMID: 32702980
10
PNMT promoter methylation inversely correlates with catecholamine secretion in pheochromocytomas and paragangliomas
PMID: 38872410
11
PNMT is a candidate gene in essential hypertension pathogenesis
PMID: 15633721
Disease Associationsⓘ20
congestive heart failureOpen Targets
0.23Weak
neurodegenerative diseaseOpen Targets
0.13Weak
physical activityOpen Targets
0.12Weak
chronic rhinosinusitis with nasal polypsOpen Targets
0.10Suggestive
alcohol drinkingOpen Targets
0.09Suggestive
asthmaOpen Targets
0.09Suggestive
diabetic neuropathyOpen Targets
0.08Suggestive
primary biliary cirrhosisOpen Targets
0.08Suggestive
B-cell acute lymphoblastic leukemiaOpen Targets
0.07Suggestive
ParagangliomaOpen Targets
0.06Suggestive
pheochromocytoma/paraganglioma syndrome 6Open Targets
0.06Suggestive
Nasal Cavity PolypOpen Targets
0.06Suggestive
hyperthyroxinemiaOpen Targets
0.05Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.05Suggestive
early-onset non-syndromic cataractOpen Targets
0.05Suggestive
Cataract-microcornea syndromeOpen Targets
0.05Suggestive
essential hypertensionOpen Targets
0.05Suggestive
hypertensionOpen Targets
0.05Suggestive
Cataract with Y-shaped suture opacitiesOpen Targets
0.04Suggestive
cardiomyopathy, familial hypertrophic, 30, atrialOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DBHProtein interaction99%COMTProtein interaction97%LRTOMTProtein interaction96%MAOBProtein interaction96%MAOAProtein interaction96%THProtein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
85%
Lung
66%
Ovary
35%
Brain
31%
Liver
7%
Gene Interaction Network
Click a node to explore
PNMTDBHCOMTLRTOMTMAOBMAOATH
PROTEIN STRUCTURE
Preparing viewer…
PDB4MIK · 1.95 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.46LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.03 [0.74–1.46]
RankingsWhere PNMT stands among ~20K protein-coding genes
  • #7,801of 20,598
    Most Researched59
  • #14,916of 17,882
    Most Constrained (LOEUF)1.46
Genes detectedPNMT
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Novel cardiac cell subpopulations: Pnmt-derived cardiomyocytes.
PMID: 32810421
Open Biol · 2020
1.00
2
Regulation of PNMT gene promoter constructs transfected into the TE 671 human medulloblastoma cell line.
PMID: 8830318
Neurosci Lett · 1995
0.90
3
Cell-Effective Transition-State Analogue of Phenylethanolamine
PMID: 37467463
Biochemistry · 2023
0.80
4
Molecular classification and tumor microenvironment characteristics in pheochromocytomas.
PMID: 38407266
Elife · 2024
0.70
5
Why is the adrenal adrenergic?
PMID: 12746560
Endocr Pathol · 2003
0.60