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Aliases for PNPLA3 Gene

Aliases for PNPLA3 Gene

  • Patatin-Like Phospholipase Domain Containing 3 2 3
  • 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 63
  • C22orf20 3 4
  • ADPN 3 4
  • Chromosome 22 Open Reading Frame 20 2
  • IPLA(2)Epsilon 3
  • IPLA2epsilon 3
  • EC 2.7.7.56 63
  • EC 4.2.3.4 63
  • 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 liver disease. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for PNPLA3 Gene at MOPED

Selected DME Specific Peptides for PNPLA3 Gene

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 patatin domain.
Domain:
  • Contains 1 patatin 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:0004623 phospholipase A2 activity IDA 15364929
GO:0004806 triglyceride lipase activity IDA 15364929
GO:0051264 mono-olein transacylation activity IDA 15364929
GO:0051265 diolein transacylation activity IDA 15364929
genes like me logo Genes that share ontologies with PNPLA3: view

Phenotypes for PNPLA3 Gene

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

Animal Models for PNPLA3 Gene

MGI Knock Outs for PNPLA3:

Animal Model Products

miRNA for PNPLA3 Gene

miRTarBase miRNAs that target PNPLA3

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PNPLA3

In Situ Assay Products

Flow Cytometry Products

No data available for 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 2
extracellular 2
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for PNPLA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane 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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Fatty Liver in human,mouse,rat
    • Molecular Toxicology PathwayFinder 384HT in human,mouse,rat

UniProtKB/Swiss-Prot Q9NST1-PLPL3_HUMAN

  • Pathway: Glycerolipid metabolism; triacylglycerol degradation

Interacting Proteins for PNPLA3 Gene

Gene Ontology (GO) - Biological Process for PNPLA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process --
GO:0006644 phospholipid metabolic process TAS --
GO:0008152 metabolic process --
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

(12) Drugs for PNPLA3 Gene - From: NovoSeek, ClinicalTrials, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Metformin Approved Pharma AMP-activated protein kinase (AMPK) activator 1573
Heparin Approved, Investigational Pharma Antagonist 672,226
MYRISTIC ACID Experimental Pharma 0
Palmitic Acid Experimental Pharma Full agonist, Agonist 20
Stearic acid Experimental Pharma 0

(19) 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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PNPLA3

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 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, MOPED, and MaxQB for PNPLA3 Gene



SOURCE GeneReport for Unigene cluster for PNPLA3 Gene Hs.654800

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

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia LOC786474 35
  • 75.98 (n)
  • 64.04 (a)
-- 36
  • 58 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PNPLA3 35
  • 76.31 (n)
  • 68.24 (a)
PNPLA3 36
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pnpla3 35
  • 74.22 (n)
  • 71.61 (a)
Pnpla3 16
Pnpla3 36
  • 71 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PNPLA3 35
  • 98.75 (n)
  • 98.34 (a)
PNPLA3 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pnpla3 35
  • 72.76 (n)
  • 67.9 (a)
oppossum
(Monodelphis domestica)
Mammalia PNPLA3 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PNPLA3 36
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 43 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 40 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii pnpla3 36
  • 38 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta bmm 36
  • 25 (a)
ManyToMany
dob 36
  • 27 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C05D11.7 36
  • 20 (a)
OneToMany
Species with no ortholog for PNPLA3:
  • 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

Q9NST1-PLPL3_HUMAN
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 MAF
rs139047 -- 43,927,194(+) ACGTT(A/G)TCAAG intron-variant
rs139048 -- 43,927,490(+) AAAAA(-/A)GAAAG intron-variant
rs139049 -- 43,927,717(+) AGTGG(C/T)GCAAT intron-variant
rs139050 -- 43,928,085(+) ATACC(A/G)AAACA intron-variant
rs139051 -- 43,928,796(-) AGTTA(C/T)AGGCG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834218 CNV Loss 17160897
nsv829265 CNV Loss 20364138
nsv834219 CNV Gain 17160897
nsv528458 CNV Gain 19592680
nsv513592 CNV Insertion 21212237
esv269894 CNV Insertion 20981092
esv274297 CNV Insertion 20981092

Variation tolerance for PNPLA3 Gene

Residual Variation Intolerance Score: 89.33% 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

HapMap Linkage Disequilibrium report
PNPLA3
Human Gene Mutation Database (HGMD)
PNPLA3

Disorders for PNPLA3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for PNPLA3 Gene - From: GeneTests, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
pnpla3-related susceptibility to nonalchoholic fatty liver disease
liver disease
  • hepatic disorder
fatty liver disease
  • steatosis of liver
alcoholic liver cirrhosis
  • alcoholic cirrhosis of liver
overnutrition
- elite association

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 the adiponutrin gene influences liver enzyme values. (PMID: 19542081) Kollerits B. … Kronenberg F. (J. Med. Genet. 2010) 23 67
  2. Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease. (PMID: 20373368) Valenti L. … Day C.P. (Hepatology 2010) 23 67
  3. 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) 23 67
  4. Peptides of the adipokinetic hormone/red pigment-concentrating hormone family: a new take on biodiversity. (PMID: 19456334) GAode G. (Ann. N. Y. Acad. Sci. 2009) 23 67
  5. Tri-iodothyronine upregulates adiponutrin mRNA expression in rat and human adipocytes. (PMID: 19619606) Calvo R.M. … Obregon M.J. (Mol. Cell. Endocrinol. 2009) 23 67

Products for PNPLA3 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Fatty Liver in human,mouse,rat
    • Molecular Toxicology PathwayFinder 384HT in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate PNPLA3
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat
  • Predesigned siRNA for gene silencing in human,mouse,rat for PNPLA3
  • Block miRNA regulation of PNPLA3 using miScript Target Protectors

Sources for PNPLA3 Gene

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