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27 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PNPLA3
patatin like domain 3, 1-acylglycerol-3-phosphate O-acyltransferase
Chromosome 22 · 22q13.31
NCBI Gene: 80339Ensembl: ENSG00000100344.12HGNC: HGNC:18590UniProt: Q9NST1
442PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
triglyceride catabolic processlipid droplet organizationtriglyceride acyl-chain remodelingtriglyceride biosynthetic processnon-alcoholic fatty liver diseaseliver diseasegoutcirrhosis of liver
✦AI Summary

PNPLA3 is a membrane-associated acyltransferase that catalyzes CoA-dependent acylation of lysophosphatidic acid to phosphatidic acid, a critical precursor for triglyceride and glycerophospholipid synthesis 1. The protein also possesses lower-activity triacylglycerol lipase and transacylase activities involved in acyl-chain remodeling 23. PNPLA3 is the strongest genetic determinant of metabolic dysfunction-associated steatotic liver disease (MASLD), with the rs738409 G allele encoding I148M being most prevalent in populations at highest NAFLD risk 4. The I148M variant causes hepatic fat accumulation exceeding twofold in homozygotes and associates with liver inflammation and fibrosis across the full histological NAFLD spectrum 45. Mechanistically, I148M enhances NAFLD development through elevated IL-6/STAT3 signaling and NF-κB activity 6. In women, the I148M variant exhibits multiplicative interaction with estrogen receptor-α, explaining sex-dependent disease progression 7. Clinically, PNPLA3 genotyping improves cirrhosis risk stratification in NAFLD patients with indeterminate fibrosis markers 8. Therapeutic targeting via antisense oligonucleotides effectively reduces PNPLA3 expression and liver fat content, supporting precision medicine approaches for MASH 910.

Sources cited
1
PNPLA3 catalyzes CoA-dependent acylation of lysophosphatidic acid and possesses low triacylglycerol lipase and transacylase activities
PMID: 22560221
2
PNPLA3 exhibits triacylglycerol lipase and transacylase activities and phospholipase A2 activity
PMID: 15364929
3
PNPLA3 plays a role in acyl-chain remodeling of triglycerides
PMID: 20034933
4
PNPLA3 rs738409 G allele encoding I148M strongly associates with increased hepatic fat and inflammation; most common in Hispanics at highest NAFLD risk
PMID: 18820647
5
PNPLA3 signal has genome-wide significance for steatosis, fibrosis, NAFLD activity score, and advanced fibrosis
PMID: 32298765
6
I148M variant enhances NAFLD phenotypes through elevated IL-6/STAT3 activity mediated by increased NF-κB activity
PMID: 36049612
7
I148M variant exhibits multiplicative interaction with estrogen receptor-α in women, driving FLD susceptibility
PMID: 37749332
8
PNPLA3 rs738409-GG genotype identifies NAFLD patients with indeterminate fibrosis markers at high cirrhosis risk
PMID: 36758837
9
Antisense oligonucleotide AZD2693 reduces hepatic PNPLA3 expression and liver fat content in PNPLA3 148M homozygotes
PMID: 39798707
10
PNPLA3 148M is the genetic variant with largest effect size on MASH heritability and is target for precision medicine therapies
PMID: 39605307
Disease Associationsⓘ21
non-alcoholic fatty liver diseaseOpen Targets
0.74Strong
liver diseaseOpen Targets
0.57Moderate
goutOpen Targets
0.57Moderate
cirrhosis of liverOpen Targets
0.56Moderate
type 2 diabetes mellitusOpen Targets
0.54Moderate
diabetes mellitusOpen Targets
0.53Moderate
alcoholic liver diseaseOpen Targets
0.53Moderate
esophageal varicesOpen Targets
0.52Moderate
hepatocellular carcinomaOpen Targets
0.51Moderate
liver cancerOpen Targets
0.50Moderate
coronary artery diseaseOpen Targets
0.49Moderate
Abnormality of the liverOpen Targets
0.49Moderate
portal hypertensionOpen Targets
0.49Moderate
HypercholesterolemiaOpen Targets
0.48Moderate
intrahepatic bile duct cancerOpen Targets
0.47Moderate
AscitesOpen Targets
0.47Moderate
Liver abscessOpen Targets
0.47Moderate
abnormality of serum enzyme levelsOpen Targets
0.47Moderate
elevated lactate dehydrogenaseOpen Targets
0.46Moderate
non-alcoholic steatohepatitisOpen Targets
0.45Moderate
Non-alcoholic fatty liver disease 1UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GPTProtein interaction93%SAMM50Protein interaction93%PLPP5Protein interaction93%PLPP4Protein interaction93%LIPGProtein interaction92%LIPFProtein interaction92%
Tissue Expression6 tissues
Liver
100%
Brain
5%
Lung
2%
Ovary
1%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
PNPLA3GPTSAMM50PLPP5PLPP4LIPGLIPF
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NST1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.24LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.75–1.24]
RankingsWhere PNPLA3 stands among ~20K protein-coding genes
  • #626of 20,598
    Most Researched442 · top 5%
  • #13,059of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedPNPLA3
Sources retrieved27 papers
Response time—
📄 Sources
27▼
1
Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease.
PMID: 18820647
Nat Genet · 2008
1.00
2
Targeting PNPLA3 to Treat MASH and MASH Related Fibrosis and Cirrhosis.
PMID: 39605307
Liver Int · 2025
0.90
3
Genome-wide association study of non-alcoholic fatty liver and steatohepatitis in a histologically characterised cohort
PMID: 32298765
J Hepatol · 2020
0.80
4
PNPLA3(148M) is a gain-of-function mutation that promotes hepatic steatosis by inhibiting ATGL-mediated triglyceride hydrolysis.
PMID: 39550037
J Hepatol · 2025
0.76
5
Patatin-like phospholipase domain-containing 3 gene (PNPLA3) polymorphic (rs738409) single nucleotide polymorphisms and susceptibility to nonalcoholic fatty liver disease: A meta-analysis of twenty studies.
PMID: 36897668
Medicine (Baltimore) · 2023
0.72