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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 3.1.1.3 4 61
  • 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 2.7.7.56 61
  • EC 4.2.3.4 61
  • 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 Eicosanoid Synthesis. 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

No data available for 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
GH22F043901 1.1 Ensembl ENCODE 36.8 -21.4 -21355 1.7 KLF1 BHLHE40 ZNF121 ZNF664 JUND ZFHX2 FOS EGR2 PNPLA3 SULT4A1 EFCAB6 KIAA1644 PNPLA5
GH22F043897 1 Ensembl ENCODE 12.2 -25.7 -25735 0.8 ZFHX2 JUND FOS EGR2 EFCAB6 PNPLA3 SULT4A1 MPPED1 PNPLA5
GH22F043867 1.2 ENCODE 10.9 -55.7 -55724 0.2 ELF3 ARID4B ZSCAN9 DNMT3B RARA SLC30A9 ZNF143 RCOR1 MIXL1 THAP11 EFCAB6 LOC100506679 PNPLA5 PNPLA3 RPL35AP36 SAMM50 KIAA1644 SULT4A1
GH22F043868 0.5 ENCODE 10.4 -54.9 -54865 1.3 ZNF792 SAP130 ARID4B DNMT3B HBP1 SLC30A9 GATAD1 ZNF143 MIXL1 GATAD2A LOC100506679 PNPLA5 EFCAB6 PNPLA3 KIAA1644 SULT4A1
GH22F043922 0.9 FANTOM5 ENCODE 6 +1.2 1211 4.3 ATF1 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 SLC30A9 GLIS2 PNPLA3 GC22M043953
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00000619248 461 2001 ATF1 ARID4B DMAP1 ZNF48 ZNF2 YY1 GLIS2 SP3 NFYC SREBF1

Genomic Location for PNPLA3 Gene

Chromosome:
22
Start:
43,923,739 bp from pter
End:
43,964,488 bp from pter
Size:
40,750 bases
Orientation:
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:
    Q9NST1-PLPL3_HUMAN
    Recommended name:
    Patatin-like phospholipase domain-containing protein 3
    Protein Accession:
    Q9NST1
    Secondary Accessions:
    • B0QYI0
    • B2RCL3
    • B3KW00
    • Q6P1A1
    • Q96CB4

    Protein attributes for PNPLA3 Gene

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

    Alternative splice isoforms for PNPLA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PNPLA3 Gene

Selected DME Specific Peptides for PNPLA3 Gene

Q9NST1:
  • LDTLSPR
  • TITVSPF
  • DLKVLGE

Post-translational modifications for PNPLA3 Gene

  • Glycosylation at Asn 89 and Asn 280
  • Modification sites at PhosphoSitePlus

Other Protein References for PNPLA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

Domains & Families for PNPLA3 Gene

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

Q9NST1

UniProtKB/Swiss-Prot:

PLPL3_HUMAN :
  • Contains 1 PNPLA (patatin-like phospholipase) domain.
Domain:
  • Contains 1 PNPLA (patatin-like phospholipase) domain.
genes like me logo Genes that share domains with PNPLA3: view

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

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:

Animal Model Products

  • Taconic Biosciences Mouse Models for PNPLA3

miRNA for PNPLA3 Gene

miRTarBase miRNAs that target PNPLA3

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for PNPLA3 Gene COMPARTMENTS Subcellular localization image for PNPLA3 gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 3
nucleus 3
extracellular 2
mitochondrion 2

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 IBA --
GO:0016020 membrane ISS,IBA --
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:0006629 lipid metabolic process IEA --
GO:0008152 metabolic process IEA --
GO:0016042 lipid catabolic process IEA --
GO:0019432 triglyceride biosynthetic process IDA 15364929
GO:0019433 triglyceride catabolic 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Metformin Approved Pharma AMP-activated protein kinase (AMPK) activator 1746
Water Approved Pharma 0
MYRISTIC ACID Experimental Pharma 0
Palmitic Acid Experimental Pharma Full agonist, Agonist 22
Stearic acid Experimental Pharma 0

(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
506-30-9
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-stearoyl-sn-glycerol
  • 1-Tetradecanoyl-3-octadecanoyl-sn-glycerol
  • DAG(14:0/0:0/18:0)
  • DAG(32:0)
  • DG(32:0)
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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: -
SP3:
SP4: -

Relevant External Links for PNPLA3 Gene

GeneLoc Exon Structure for
PNPLA3
ECgene alternative splicing isoforms for
PNPLA3

Expression for PNPLA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

PNPLA3

SOURCE GeneReport for Unigene cluster for PNPLA3 Gene:

Hs.654800
genes like me logo Genes that share expression patterns with PNPLA3: view

Primer Products

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 and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia PNPLA3 34 35
  • 98.75 (n)
dog
(Canis familiaris)
Mammalia PNPLA3 34 35
  • 76.31 (n)
cow
(Bos Taurus)
Mammalia LOC786474 34
  • 75.98 (n)
-- 35
  • 62 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Pnpla3 34 16 35
  • 74.22 (n)
rat
(Rattus norvegicus)
Mammalia Pnpla3 34
  • 72.76 (n)
oppossum
(Monodelphis domestica)
Mammalia PNPLA3 35
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PNPLA3 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 43 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 40 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii pnpla3 35
  • 38 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta dob 35
  • 27 (a)
ManyToMany
bmm 35
  • 25 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C05D11.7 35
  • 20 (a)
OneToMany
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

ENSEMBL:
Gene Tree for PNPLA3 (if available)
TreeFam:
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

PLPL3_HUMAN-Q9NST1
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
rs1010022 -- 43,940,430(-) agcag(C/T)gaccc intron-variant
rs1010023 -- 43,940,218(-) AATCC(A/G)GGTCC intron-variant
rs10666800 -- 43,942,702(+) TTTTC(-/TTT)TTTTT intron-variant
rs11090617 -- 43,930,820(+) TTCCC(C/T)AACCC intron-variant
rs111321350 -- 43,942,946(+) CTTAT(G/T)AGGAA intron-variant

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

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

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)
PNPLA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PNPLA3

Disorders for PNPLA3 Gene

MalaCards: The human disease database

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

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

UniProtKB/Swiss-Prot

PLPL3_HUMAN
  • 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}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for PNPLA3

Genetic Association Database (GAD)
PNPLA3
Human Genome Epidemiology (HuGE) Navigator
PNPLA3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PNPLA3
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-Jarvinen H. (Diabetologia 2009) 3 4 22 46 64
  2. A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity. (PMID: 19738004) Sookoian S. … Pirola C.J. (J. Lipid Res. 2009) 3 4 22 46 64
  3. Polymorphisms in the adiponutrin gene are associated with increased insulin secretion and obesity. (PMID: 18728122) Johansson L.E. … Ridderstraale M. (Eur. J. Endocrinol. 2008) 3 4 22 46 64
  4. A common variant in the adiponutrin gene influences liver enzyme values. (PMID: 19542081) Kollerits B. … Kronenberg F. (J. Med. Genet. 2010) 3 22 46 64
  5. Genetic variance in the adiponutrin gene family and childhood obesity. (PMID: 19390624) Johansson L.E. … RidderstrAYle M. (PLoS ONE 2009) 3 22 46 64

Products for PNPLA3 Gene

Sources for PNPLA3 Gene