Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PNPLA2 Gene

Aliases for PNPLA2 Gene

  • Patatin-Like Phospholipase Domain Containing 2 2 3
  • ATGL 3 4 6
  • TTS2 3 4 6
  • Calcium-Independent Phospholipase A2 3 4
  • Pigment Epithelium-Derived Factor 3 4
  • Adipose Triglyceride Lipase 3 4
  • IPLA2-Zeta 3 4
  • EC 3.1.1.3 4 63
  • Desnutrin 3 4
  • TTS2.2 3 4
  • Patatin-Like Phospholipase Domain Containing Protein 2 3
  • Patatin-Like Phospholipase Domain-Containing Protein 2 3
  • Transport-Secretion Protein 2.2 3
  • Transport-Secretion Protein 2 4
  • Triglyceride Hydrolase 3
  • 1110001C14Rik 3
  • IPLA2zeta 3
  • FP17548 3
  • TTS-2.2 3
  • PEDF-R 3

External Ids for PNPLA2 Gene

Summaries for PNPLA2 Gene

Entrez Gene Summary for PNPLA2 Gene

  • This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]

GeneCards Summary for PNPLA2 Gene

PNPLA2 (Patatin-Like Phospholipase Domain Containing 2) is a Protein Coding gene. Diseases associated with PNPLA2 include neutral lipid storage disease with myopathy and neutral lipid storage disease. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include triglyceride lipase activity. An important paralog of this gene is PNPLA4.

UniProtKB/Swiss-Prot for PNPLA2 Gene

  • Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets. Also has acylglycerol transacylase activity. May act coordinately with LIPE/HLS within the lipolytic cascade. Regulates adiposome size and may be involved in the degradation of adiposomes. May play an important role in energy homeostasis. May play a role in the response of the organism to starvation, enhancing hydrolysis of triglycerides and providing free fatty acids to other tissues to be oxidized in situations of energy depletion.

Gene Wiki entry for PNPLA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNPLA2 Gene

Genomics for PNPLA2 Gene

Genomic Location for PNPLA2 Gene

Start:
818,901 bp from pter
End:
825,573 bp from pter
Size:
6,673 bases
Orientation:
Plus strand

Genomic View for PNPLA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PNPLA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNPLA2 Gene

Regulatory Elements for PNPLA2 Gene

Proteins for PNPLA2 Gene

  • Protein details for PNPLA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96AD5-PLPL2_HUMAN
    Recommended name:
    Patatin-like phospholipase domain-containing protein 2
    Protein Accession:
    Q96AD5
    Secondary Accessions:
    • O60643
    • Q5EFF5
    • Q6XYE5
    • Q96ET6
    • Q9NQ61
    • Q9NQ62

    Protein attributes for PNPLA2 Gene

    Size:
    504 amino acids
    Molecular mass:
    55316 Da
    Quaternary structure:
    • Interacts with ABHD5; this association stimulates PNPLA2 triglyceride hydrolase activity (By similarity). Interacts with SERPINF1; interacts at one site of interaction. Despite a colocalization in lipid droplets, it probably does not interact with PLIN (By similarity). Interacts with PLIN5; prevents interaction with ABHD5 (By similarity).
    SequenceCaution:
    • Sequence=AAP34448.1; Type=Frameshift; Positions=501; Evidence={ECO:0000305}; Sequence=CAC01131.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC01132.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PNPLA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PNPLA2 Gene

Proteomics data for PNPLA2 Gene at MOPED

Post-translational modifications for PNPLA2 Gene

  • Phosphorylation at Ser-404 by PKA is increased during fasting and moderate intensity exercise, and moderately increases lipolytic activity (By similarity). Phosphorylation at Ser-404 is increased upon beta-adrenergic stimulation.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys100, Lys224, and Lys435
  • Glycosylation at Asn39

Other Protein References for PNPLA2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for PNPLA2 Gene

Gene Families for PNPLA2 Gene

HGNC:
  • PNPLA :Patatin-like phospholipase domain containing

Protein Domains for PNPLA2 Gene

Suggested Antigen Peptide Sequences for PNPLA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96AD5

UniProtKB/Swiss-Prot:

PLPL2_HUMAN
Domain:
  • Contains 1 patatin domain.:
    • Q96AD5
genes like me logo Genes that share domains with PNPLA2: view

Function for PNPLA2 Gene

Molecular function for PNPLA2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: pH dependence: Optimum pH is 7.5 with (1,2-dilinoleoyl)-phosphatidylcholine as substrate. {ECO:0000269 PubMed:17032652};
UniProtKB/Swiss-Prot CatalyticActivity: Triacylglycerol + H(2)O = diacylglycerol + a carboxylate
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by BEL ((E)-6-(bromomethylene)-3-(1-naphthalenyl)-2H-tetrahydropyran-2-one), a suicide substrate inhibitor. No differences in enzymatic activity that uses (1,2-dilinoleoyl)-phosphatidylcholine as substrate was detected in the presence or absence of ATP. Activated by ABHD5 and SERPINF1.
UniProtKB/Swiss-Prot Function: Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets. Also has acylglycerol transacylase activity. May act coordinately with LIPE/HLS within the lipolytic cascade. Regulates adiposome size and may be involved in the degradation of adiposomes. May play an important role in energy homeostasis. May play a role in the response of the organism to starvation, enhancing hydrolysis of triglycerides and providing free fatty acids to other tissues to be oxidized in situations of energy depletion.

Enzyme Numbers (IUBMB) for PNPLA2 Gene

Gene Ontology (GO) - Molecular Function for PNPLA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004806 triglyceride lipase activity ISS --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with PNPLA2: view
genes like me logo Genes that share phenotypes with PNPLA2: view

Animal Models for PNPLA2 Gene

MGI Knock Outs for PNPLA2:

miRNA for PNPLA2 Gene

miRTarBase miRNAs that target PNPLA2

No data available for Transcription Factor Targeting and HOMER Transcription for PNPLA2 Gene

Localization for PNPLA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNPLA2 Gene

Lipid droplet. Cell membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PNPLA2 Gene COMPARTMENTS Subcellular localization image for PNPLA2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
cytosol 2
extracellular 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PNPLA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005811 lipid particle IDA 21498505
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PNPLA2: view

Pathways for PNPLA2 Gene

genes like me logo Genes that share pathways with PNPLA2: view

Pathways by source for PNPLA2 Gene

UniProtKB/Swiss-Prot Q96AD5-PLPL2_HUMAN

  • Pathway: Glycerolipid metabolism; triacylglycerol degradation

Gene Ontology (GO) - Biological Process for PNPLA2 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:0010891 negative regulation of sequestering of triglyceride IDA 16679289
GO:0010898 positive regulation of triglyceride catabolic process IDA 16679289
genes like me logo Genes that share ontologies with PNPLA2: view

Compounds for PNPLA2 Gene

(1141) HMDB Compounds for PNPLA2 Gene

Compound Synonyms Cas Number PubMed IDs
Arachidic acid
  • Arachate
506-30-9
Arachidonic acid
  • 5,8,11,14-Eicosatetraenoic acid
506-32-1
DG(14:0/14:0/0:0)
  • DAG(14:0/14:0)
Not Available
DG(14:0/14:1(9Z)/0:0)
  • DAG(14:0/14:1)
Not Available
DG(14:0/15:0/0:0)
  • Diacylglycerol(29:0)
Not Available

(7) Novoseek inferred chemical compound relationships for PNPLA2 Gene

Compound -log(P) Hits PubMed IDs
triacylglycerol 78.8 25
monoacylglycerol 67.3 4
lipid 60.4 40
fatty acid 49.9 7
glycerol 39.6 1
genes like me logo Genes that share compounds with PNPLA2: view

Transcripts for PNPLA2 Gene

Unigene Clusters for PNPLA2 Gene

Patatin-like phospholipase domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PNPLA2 Gene

No ASD Table

Relevant External Links for PNPLA2 Gene

GeneLoc Exon Structure for
PNPLA2
ECgene alternative splicing isoforms for
PNPLA2

Expression for PNPLA2 Gene

mRNA expression in normal human tissues for PNPLA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PNPLA2 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (6.5) and Adipose - Subcutaneous (5.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PNPLA2 Gene

SOURCE GeneReport for Unigene cluster for PNPLA2 Gene Hs.654697

mRNA Expression by UniProt/SwissProt for PNPLA2 Gene

Q96AD5-PLPL2_HUMAN
Tissue specificity: Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level).
genes like me logo Genes that share expressions with PNPLA2: view

Orthologs for PNPLA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PNPLA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PNPLA2 35
  • 99.4 (n)
  • 99.4 (a)
PNPLA2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PNPLA2 35
  • 88.82 (n)
  • 88.17 (a)
PNPLA2 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PNPLA2 35
  • 87.14 (n)
  • 90.36 (a)
PNPLA2 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pnpla2 35
  • 84.42 (n)
  • 88.96 (a)
Pnpla2 16
Pnpla2 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PNPLA2 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911615 35
  • 84.06 (n)
  • 89.69 (a)
chicken
(Gallus gallus)
Aves PNPLA2 35
  • 69.58 (n)
  • 71.4 (a)
PNPLA2 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PNPLA2 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pnpla2 35
  • 65.48 (n)
  • 69.78 (a)
zebrafish
(Danio rerio)
Actinopterygii PNPLA2 36
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta bmm 36
  • 27 (a)
ManyToMany
dob 36
  • 30 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C05D11.7 35
  • 45.41 (n)
  • 40.68 (a)
C05D11.7 36
  • 22 (a)
OneToMany
Species with no ortholog for PNPLA2:
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)

Evolution for PNPLA2 Gene

ENSEMBL:
Gene Tree for PNPLA2 (if available)
TreeFam:
Gene Tree for PNPLA2 (if available)

Paralogs for PNPLA2 Gene

Paralogs for PNPLA2 Gene

Selected SIMAP similar genes for PNPLA2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PNPLA2: view

Variants for PNPLA2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PNPLA2 Gene

Q96AD5-PLPL2_HUMAN
Genetic variations in PNPLA2 may be associated with plasma free fatty acids, triglycerides levels, and fasting glucose concentrations

Sequence variations from dbSNP and Humsavar for PNPLA2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs1135628 -- 823,809(+) CTGCC(C/G)GGAGA reference, synonymous-codon
rs6597978 -- 817,286(-) tactc(C/G)ggagg upstream-variant-2KB
rs7925131 -- 820,268(-) ACCGA(C/T)CGCTG intron-variant
rs7928917 -- 819,464(-) TCGGG(A/C)CCCGC intron-variant, upstream-variant-2KB
rs7942159 -- 822,622(-) AGTCC(C/T)CGGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PNPLA2 Gene

Variant ID Type Subtype PubMed ID
dgv182e199 CNV Deletion 23128226
dgv921n71 CNV Loss 21882294
nsv469923 CNV Loss 18288195
essv23843 CNV CNV 17122850
dgv936n71 CNV Loss 21882294
dgv944n71 CNV Loss 21882294
dgv945n71 CNV Loss 21882294
dgv946n71 CNV Loss 21882294
nsv896587 CNV Loss 21882294
essv11734 CNV CNV 17122850
nsv8759 CNV Gain 18304495
dgv947n71 CNV Loss 21882294
nsv896599 CNV Loss 21882294
nsv896600 CNV Gain 21882294
nsv832044 CNV Loss 17160897
nsv896601 CNV Loss 21882294
dgv949n71 CNV Loss 21882294
dgv950n71 CNV Gain 21882294
dgv951n71 CNV Loss 21882294
nsv896608 CNV Loss 21882294

Relevant External Links for PNPLA2 Gene

HapMap Linkage Disequilibrium report
PNPLA2
Human Gene Mutation Database (HGMD)
PNPLA2

Disorders for PNPLA2 Gene

(1) OMIM Diseases for PNPLA2 Gene (609059)

UniProtKB/Swiss-Prot

PLPL2_HUMAN
  • Note=Genetic variations in PNPLA2 may be associated with risk of diabetes mellitus type 2.
  • Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]: Neutral lipid storage disorder (NLSD) with myopathy but without ichthyosis. NLSDs are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Individuals with NLSDM did not show obesity, in spite of a defect in triglyceride degradation in fibroblasts and in marked triglyceride storage in liver, muscles, and other visceral cells. {ECO:0000269 PubMed:17187067}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) Novoseek inferred disease relationships for PNPLA2 Gene

Disease -log(P) Hits PubMed IDs
obesity 54.8 14
insulin resistance 45 5
metabolic disorder 32.4 1
tumors 4.6 2
necrosis 0 2

Relevant External Links for PNPLA2

Genetic Association Database (GAD)
PNPLA2
Human Genome Epidemiology (HuGE) Navigator
PNPLA2
genes like me logo Genes that share disorders with PNPLA2: view

Publications for PNPLA2 Gene

  1. The ATGL gene is associated with free fatty acids, triglycerides, and type 2 diabetes. (PMID: 16644682) Schoenborn V. … Kronenberg F. (Diabetes 2006) 3 4 23 48
  2. ATGL has a key role in lipid droplet/adiposome degradation in mammalian cells. (PMID: 16239926) Smirnova E. … Jackson C.L. (EMBO Rep. 2006) 3 4 23
  3. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. (PMID: 17187067) Fischer J. … Salvayre R. (Nat. Genet. 2007) 3 4 23
  4. Identification of a lipase-linked cell membrane receptor for pigment epithelium-derived factor. (PMID: 17032652) Notari L. … Becerra S.P. (J. Biol. Chem. 2006) 3 4 23
  5. Rare ATGL haplotypes are associated with increased plasma triglyceride concentrations in the Greenland Inuit. (PMID: 20167152) Johansen C.T. … Hegele R.A. (Int J Circumpolar Health 2010) 3 23 48

Products for PNPLA2 Gene

Sources for PNPLA2 Gene

Back to Top

Content