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Aliases for PNPLA3 Gene

Aliases for PNPLA3 Gene

  • Patatin Like Phospholipase Domain Containing 3 2 3 5
  • Adiponutrin 2 3 4
  • Calcium-Independent Phospholipase A2-Epsilon 3 4
  • Acylglycerol O-Acyltransferase 3 4
  • IPLA2-Epsilon 3 4
  • EC 4 58
  • C22orf20 3 4
  • ADPN 3 4
  • Patatin-Like Phospholipase Domain-Containing Protein 3 3
  • Patatin-Like Phospholipase Domain Containing 3 2
  • Chromosome 22 Open Reading Frame 20 2
  • IPLA(2)Epsilon 3
  • IPLA2epsilon 3
  • EC 58
  • EC 58
  • EC 2.3.1.- 4

External Ids for PNPLA3 Gene

Previous HGNC Symbols for PNPLA3 Gene

  • C22orf20
  • ADPN

Previous GeneCards Identifiers for PNPLA3 Gene

  • GC22P042651
  • GC22P044319
  • GC22P027273

Summaries for PNPLA3 Gene

Entrez Gene Summary for PNPLA3 Gene

  • The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008]

GeneCards Summary for PNPLA3 Gene

PNPLA3 (Patatin Like Phospholipase Domain Containing 3) is a Protein Coding gene. Diseases associated with PNPLA3 include Pnpla3-Related Susceptibility To Nonalchoholic Fatty Liver Disease and Fatty Liver Disease. Among its related pathways are Metabolism and Adipogenesis. GO annotations related to this gene include phospholipase A2 activity and mono-olein transacylation activity. An important paralog of this gene is PNPLA2.

UniProtKB/Swiss-Prot for PNPLA3 Gene

  • Multifunctional enzyme which has both triacylglycerol lipase and acylglycerol O-acyltransferase activities.

Gene Wiki entry for PNPLA3 Gene

Additional gene information for PNPLA3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNPLA3 Gene

Genomics for PNPLA3 Gene

Regulatory Elements for PNPLA3 Gene

Enhancers for PNPLA3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H043901 0.5 ENCODE 36.8 -21.4 -21355 1.7 ZNF121 NFIC KLF1 JUND FOS PNPLA3 SULT4A1 EFCAB6 KIAA1644 PNPLA5
GH22H043867 0.9 ENCODE 10.9 -55.7 -55724 0.2 ELF3 ARID4B DNMT3B ZSCAN9 RARA SLC30A9 ZNF766 ZNF143 RCOR1 MIXL1 EFCAB6 PNPLA5 PNPLA3 RPL35AP36 SAMM50 KIAA1644 SULT4A1
GH22H043868 0.8 ENCODE 10.4 -54.9 -54865 1.3 ZNF792 SAP130 ARID4B DNMT3B KMT2B SLC30A9 ZNF766 GATAD1 ZNF143 MIXL1 PNPLA5 EFCAB6 PNPLA3 KIAA1644 SULT4A1
GH22H043922 1.3 FANTOM5 ENCODE 5.9 +1.2 1211 4.3 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 SP3 SP5 PNPLA3 GC22M043953
GH22H043897 0.5 ENCODE 12.3 -25.7 -25724 0.8 ZFHX2 JUND FOS ZNF398 EGR2 EFCAB6 PNPLA3 SULT4A1 MPPED1 PNPLA5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PNPLA3 on UCSC Golden Path with GeneCards custom track

Promoters for PNPLA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for PNPLA3 Gene

Genomic Locations for PNPLA3 Gene
40,750 bases
Plus strand

Genomic View for PNPLA3 Gene

Genes around PNPLA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNPLA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNPLA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNPLA3 Gene

Proteins for PNPLA3 Gene

  • Protein details for PNPLA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Patatin-like phospholipase domain-containing protein 3
    Protein Accession:
    Secondary Accessions:
    • B0QYI0
    • B2RCL3
    • B3KW00
    • Q6P1A1
    • Q96CB4

    Protein attributes for PNPLA3 Gene

    481 amino acids
    Molecular mass:
    52865 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PNPLA3 Gene


neXtProt entry for PNPLA3 Gene

Selected DME Specific Peptides for PNPLA3 Gene


Post-translational modifications for PNPLA3 Gene

  • Glycosylation at Asn89 and Asn280
  • Modification sites at PhosphoSitePlus

Other Protein References for PNPLA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for PNPLA3 (Adiponutrin/PNPLA3)
  • Abcam antibodies for PNPLA3

Domains & Families for PNPLA3 Gene

Gene Families for PNPLA3 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PNPLA3 Gene

Suggested Antigen Peptide Sequences for PNPLA3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PNPLA3: view

No data available for UniProtKB/Swiss-Prot for PNPLA3 Gene

Function for PNPLA3 Gene

Molecular function for PNPLA3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Triacylglycerol + H(2)O = diacylglycerol + a carboxylate.
UniProtKB/Swiss-Prot Function:
Multifunctional enzyme which has both triacylglycerol lipase and acylglycerol O-acyltransferase activities.
UniProtKB/Swiss-Prot Induction:
By changes in energy balance: down-regulated following very low-calorie diet, whereas refeeding elevates the mRNA level.

Enzyme Numbers (IUBMB) for PNPLA3 Gene

Phenotypes From GWAS Catalog for PNPLA3 Gene

Gene Ontology (GO) - Molecular Function for PNPLA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004465 lipoprotein lipase activity TAS --
GO:0004623 phospholipase A2 activity IDA 15364929
GO:0004806 triglyceride lipase activity TAS --
GO:0016411 acylglycerol O-acyltransferase activity TAS --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with PNPLA3: view
genes like me logo Genes that share phenotypes with PNPLA3: view

Animal Models for PNPLA3 Gene

MGI Knock Outs for PNPLA3:

miRNA for PNPLA3 Gene

miRTarBase miRNAs that target PNPLA3

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PNPLA3 Gene

Localization for PNPLA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNPLA3 Gene

Membrane; Single-pass type II membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PNPLA3 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 3
nucleus 3
cytosol 3
extracellular 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PNPLA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005811 lipid particle IDA,IBA 22560221
GO:0016020 membrane IDA,ISS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PNPLA3: view

Pathways & Interactions for PNPLA3 Gene

genes like me logo Genes that share pathways with PNPLA3: view

Pathways by source for PNPLA3 Gene

UniProtKB/Swiss-Prot Q9NST1-PLPL3_HUMAN

  • Pathway: Glycerolipid metabolism; triacylglycerol degradation.

Gene Ontology (GO) - Biological Process for PNPLA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001676 long-chain fatty acid metabolic process IDA 22560221
GO:0006629 lipid metabolic process IEA --
GO:0006650 glycerophospholipid metabolic process IDA 22560221
GO:0006654 phosphatidic acid biosynthetic process IDA 22560221
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with PNPLA3: view

No data available for SIGNOR curated interactions for PNPLA3 Gene

Drugs & Compounds for PNPLA3 Gene

(18) Drugs for PNPLA3 Gene - From: PharmGKB, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Asparaginase Approved Pharma 233
Metformin Approved Pharma AMP-activated protein kinase (AMPK) activator 1849
Water Approved Pharma 0
Myristic acid Experimental Pharma 0
Palmitic Acid Experimental Pharma Full agonist, Agonist 22

(17) Additional Compounds for PNPLA3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachate
  • Arachic acid
  • Arachidate
  • Arachidic acid
  • Eicosanoate
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-behenoyl-sn-glycerol
  • 1-Tetradecanoyl-3-docosanoyl-sn-glycerol
  • DAG(14:0/0:0/22:0)
  • DAG(36:0)
  • DG(36:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
genes like me logo Genes that share compounds with PNPLA3: view

Transcripts for PNPLA3 Gene

Unigene Clusters for PNPLA3 Gene

Patatin-like phospholipase domain containing 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PNPLA3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1: - -
SP2: -
SP4: -

Relevant External Links for PNPLA3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PNPLA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PNPLA3 Gene

mRNA differential expression in normal tissues according to GTEx for PNPLA3 Gene

This gene is overexpressed in Liver (x23.4) and Skin - Sun Exposed (Lower leg) (x4.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PNPLA3 Gene

NURSA nuclear receptor signaling pathways regulating expression of PNPLA3 Gene:


SOURCE GeneReport for Unigene cluster for PNPLA3 Gene:


Evidence on tissue expression from TISSUES for PNPLA3 Gene

  • Skin(4.2)
  • Nervous system(4.1)
  • Liver(3.5)
genes like me logo Genes that share expression patterns with PNPLA3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PNPLA3 Gene

Orthologs for PNPLA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PNPLA3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PNPLA3 33 34
  • 98.75 (n)
(Canis familiaris)
Mammalia PNPLA3 33 34
  • 76.31 (n)
(Bos Taurus)
Mammalia LOC786474 33
  • 75.98 (n)
-- 34
  • 62 (a)
-- 34
  • 58 (a)
(Mus musculus)
Mammalia Pnpla3 33 16 34
  • 74.22 (n)
(Rattus norvegicus)
Mammalia Pnpla3 33
  • 72.76 (n)
(Monodelphis domestica)
Mammalia PNPLA3 34
  • 55 (a)
(Ornithorhynchus anatinus)
Mammalia PNPLA3 34
  • 55 (a)
(Gallus gallus)
Aves -- 34
  • 43 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 40 (a)
(Danio rerio)
Actinopterygii pnpla3 34
  • 38 (a)
fruit fly
(Drosophila melanogaster)
Insecta dob 34
  • 27 (a)
bmm 34
  • 25 (a)
(Caenorhabditis elegans)
Secernentea C05D11.7 34
  • 20 (a)
Species where no ortholog for PNPLA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PNPLA3 Gene

Gene Tree for PNPLA3 (if available)
Gene Tree for PNPLA3 (if available)

Paralogs for PNPLA3 Gene

Paralogs for PNPLA3 Gene

(5) SIMAP similar genes for PNPLA3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with PNPLA3: view

Variants for PNPLA3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PNPLA3 Gene

Polymorphic variation at position 148 influences insulin secretion levels and obesity. In obese subjects the body mass index and waist are higher in carriers of the Ile-148 allele. The Ile-148 carriers also display decreased insulin secretion in response to oral glucose tolerance test. Met-148 allele carriers are seemingly more insulin resistant at a lower body mass index.

Sequence variations from dbSNP and Humsavar for PNPLA3 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs190477302 Non-alcoholic fatty liver disease 1 (NAFLD1) [MIM:613282] 43,932,990(+) GTCCA(C/G/T)GAACT reference, missense
rs746140741 Non-alcoholic fatty liver disease 1 (NAFLD1) [MIM:613282] 43,926,973(+) GGAAG(A/G)CCAGG reference, missense
VAR_077544 Non-alcoholic fatty liver disease 1 (NAFLD1) [MIM:613282]
rs116679026 Likely benign 43,937,265(+) AGGCT(C/G/T)GCTAC reference, synonymous-codon
rs116795637 Likely benign 43,924,110(+) CTGGG(A/G)ACGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PNPLA3 Gene

Variant ID Type Subtype PubMed ID
nsv834219 CNV gain 17160897
nsv834218 CNV loss 17160897
nsv829265 CNV loss 20364138
nsv528458 CNV gain 19592680
nsv513592 CNV insertion 21212237
nsv1139069 CNV deletion 24896259
nsv1056412 CNV gain 25217958
nsv1055831 CNV gain 25217958
esv3310025 CNV mobile element insertion 20981092
esv3305617 CNV mobile element insertion 20981092

Variation tolerance for PNPLA3 Gene

Residual Variation Intolerance Score: 89.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.69; 89.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PNPLA3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

Disorders for PNPLA3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PNPLA3 Gene - From: HGMD, GeneTests, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pnpla3-related susceptibility to nonalchoholic fatty liver disease
fatty liver disease
  • alcoholic fatty liver
liver disease
  • disorder of liver
alcoholic liver cirrhosis
  • alcoholic cirrhosis
lipid storage disease
  • inborn lipid storage disorder
- elite association - COSMIC cancer census association via MalaCards


  • Non-alcoholic fatty liver disease 1 (NAFLD1) [MIM:613282]: A condition characterized by accumulation of triglycerides in the liver. It is associated with adverse metabolic consequences, including insulin resistance and dyslipidemia. In a subset of individuals, hepatic steatosis promotes an inflammatory response in the liver, referred to as steatohepatitis, which can progress to cirrhosis and liver cancer. NAFLD is the most common form of liver disease in Western countries. {ECO:0000269 PubMed:18820647, ECO:0000269 PubMed:19224197, ECO:0000269 PubMed:19738004, ECO:0000269 PubMed:27288299}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for PNPLA3

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PNPLA3: view

No data available for Genatlas for PNPLA3 Gene

Publications for PNPLA3 Gene

  1. A common variant in PNPLA3, which encodes adiponutrin, is associated with liver fat content in humans. (PMID: 19224197) Kotronen A … Yki-Järvinen H (Diabetologia 2009) 3 4 22 45 60
  2. A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity. (PMID: 19738004) Sookoian S … Pirola CJ (Journal of lipid research 2009) 3 4 22 45 60
  3. Polymorphisms in the adiponutrin gene are associated with increased insulin secretion and obesity. (PMID: 18728122) Johansson LE … Ridderstråle M (European journal of endocrinology 2008) 3 4 22 45 60
  4. A common variant in the adiponutrin gene influences liver enzyme values. (PMID: 19542081) Kollerits B … Kronenberg F (Journal of medical genetics 2010) 3 22 45 60
  5. Genetic variance in the adiponutrin gene family and childhood obesity. (PMID: 19390624) Johansson LE … Ridderstråle M (PloS one 2009) 3 22 45 60

Products for PNPLA3 Gene

Sources for PNPLA3 Gene

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