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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PEMT
phosphatidylethanolamine N-methyltransferase
Chromosome 17 · 17p11.2
NCBI Gene: 10400Ensembl: ENSG00000133027.19HGNC: HGNC:8830UniProt: Q9UBM1
76PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulumphosphatidylethanolamine N-methyltransferase activityphosphatidylcholine biosynthetic processpositive regulation of cold-induced thermogenesismetabolic syndromeneurodegenerative diseaseallergic rhinitiscoronary artery disease
✦AI Summary

PEMT (phosphatidylethanolamine N-methyltransferase) is an endoplasmic reticulum-localized enzyme that catalyzes the sequential three-step methylation of phosphatidylethanolamine to phosphatidylcholine (PC), serving as an alternative pathway for PC biosynthesis independent of the Kennedy pathway 1. The gene generates three distinct transcripts through differential promoter usage, with the highest expression in liver, followed by heart and testis, enabling tissue-specific regulation 2. PEMT activity is regulated by substrate availability (phosphatidylethanolamine and S-adenosylmethionine) and estrogen, with estrogen-responsive elements in the gene promoter explaining why premenopausal women show greater resistance to choline deficiency 3. Clinically, PEMT dysfunction is associated with nonalcoholic fatty liver disease (NAFLD), as the V175M polymorphism represents a loss-of-function mutation occurring in 67.9% of NAFLD patients versus 40.7% of controls 4. Additionally, visceral adipose tissue PEMT expression correlates with type 2 diabetes and non-alcoholic steatohepatitis (NASH) progression, and the rs4646404 variant associates with altered fat distribution and diabetes-related traits 5. These findings position PEMT as a key regulator of lipid metabolism with implications for metabolic disease susceptibility.

Sources cited
1
PEMT converts phosphatidylethanolamine to phosphatidylcholine via three methylation reactions; exists in ER-associated (PEMT1) and mitochondrial (PEMT2) forms; gene expression regulated by development and dietary choline
PMID: 9370326
2
PEMT gene contains three unique promoters generating tissue-specific transcripts; highest expression in liver followed by heart and testis
PMID: 11420179
3
Estrogen induces PEMT gene expression in hepatocytes dose-dependently via estrogen response elements; explains sex-related differences in choline requirements
PMID: 17456783
4
V175M PEMT polymorphism is a loss-of-function mutation associated with NAFLD susceptibility; occurs in 67.9% of NAFLD patients versus 40.7% controls
PMID: 16051693
5
Visceral adipose PEMT expression correlates with type 2 diabetes and NASH progression; rs4646404 variant associates with fat distribution and metabolic traits
PMID: 38069170
Disease Associationsⓘ20
metabolic syndromeOpen Targets
0.25Weak
neurodegenerative diseaseOpen Targets
0.24Weak
allergic rhinitisOpen Targets
0.15Weak
coronary artery diseaseOpen Targets
0.14Weak
Abnormality of the skeletal systemOpen Targets
0.12Weak
large artery strokeOpen Targets
0.10Weak
ovarian dysfunctionOpen Targets
0.10Suggestive
atopic eczemaOpen Targets
0.10Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.08Suggestive
non-alcoholic steatohepatitisOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
neonatal intrahepatic cholestasis due to citrin deficiencyOpen Targets
0.06Suggestive
congenital disorder of glycosylation type IIOpen Targets
0.06Suggestive
digestive system cancerOpen Targets
0.05Suggestive
Congenital bile acid synthesis defect type 1Open Targets
0.05Suggestive
deep vein thrombosisOpen Targets
0.05Suggestive
glycogen storage disease VIOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
TMEM199-CDGOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PISDProtein interaction98%CHKAProtein interaction97%LCATProtein interaction97%PLD1Protein interaction97%PLD2Protein interaction97%PCYT2Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Ovary
11%
Lung
9%
Brain
8%
Bone Marrow
5%
Heart
5%
Gene Interaction Network
Click a node to explore
PEMTPISDCHKALCATPLD1PLD2PCYT2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9UBM1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.31LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.88 [0.61–1.31]
RankingsWhere PEMT stands among ~20K protein-coding genes
  • #6,275of 20,598
    Most Researched76
  • #13,773of 17,882
    Most Constrained (LOEUF)1.31
Genes detectedPEMT
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
MUC1: a multifaceted oncoprotein with a key role in cancer progression.
PMID: 24667139
Trends Mol Med · 2014
1.00
2
Phosphatidylethanolamine N-methyltransferase (PEMT) gene expression is induced by estrogen in human and mouse primary hepatocytes.
PMID: 17456783
FASEB J · 2007
0.90
3
Structure, expression profile and alternative processing of the human phosphatidylethanolamine N-methyltransferase (PEMT) gene.
PMID: 11420179
Biochim Biophys Acta · 2001
0.80
4
Phosphatidylethanolamine N-methyltransferase from liver.
PMID: 9370326
Biochim Biophys Acta · 1997
0.70
5
Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD).
PMID: 16051693
FASEB J · 2005
0.60