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Aliases for PNPLA2 Gene

Aliases for PNPLA2 Gene

  • Patatin Like Phospholipase Domain Containing 2 2 3 5
  • Patatin-Like Phospholipase Domain Containing 2 2 3
  • 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
  • ATGL 3 4
  • TTS2 3 4
  • Patatin-Like Phospholipase Domain Containing Protein 2 3
  • Mutant Patatin-Like Phospholipase Domain Containing 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

Previous GeneCards Identifiers for PNPLA2 Gene

  • GC11P000808
  • GC11P000634
  • GC11P000819

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 triacylglycerol degradation. 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 (PubMed:15550674). 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 (PubMed:16239926). 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

Regulatory Elements for PNPLA2 Gene

Promoters for PNPLA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PNPLA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PNPLA2 Gene

Chromosome:
11
Start:
818,891 bp from pter
End:
825,573 bp from pter
Size:
6,683 bases
Orientation:
Plus strand

Genomic View for PNPLA2 Gene

Genes around PNPLA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNPLA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNPLA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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). Interacts with FAF2 (PubMed:23297223).
    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.
  • Ubiquitination at Lys 100, Lys 224, and Lys 435
  • Glycosylation at Asn 39
  • Modification sites at PhosphoSitePlus

Other Protein References for PNPLA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for PNPLA2 (PEDF R/PNPLA2)
  • Cell Signaling Technology (CST) Antibodies for PNPLA2 (PNPLA2)

Domains & Families for PNPLA2 Gene

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 :
  • Contains 1 patatin domain.
Domain:
  • Contains 1 patatin domain.
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 (PubMed:15550674). 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 (PubMed:16239926). 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

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

Human Phenotype Ontology for PNPLA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PNPLA2 Gene

MGI Knock Outs for PNPLA2:

Animal Model Products

CRISPR Products

miRNA for PNPLA2 Gene

miRTarBase miRNAs that target PNPLA2

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
endoplasmic reticulum 5
plasma membrane 5
cytosol 4
extracellular 2
mitochondrion 2
nucleus 2
peroxisome 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PNPLA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with PNPLA2: view

Pathways & Interactions for PNPLA2 Gene

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

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 IEA --
GO:0006644 phospholipid metabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0010891 negative regulation of sequestering of triglyceride IEA,IDA 16679289
GO:0019915 lipid storage IEA --
genes like me logo Genes that share ontologies with PNPLA2: view

No data available for SIGNOR curated interactions for PNPLA2 Gene

Drugs & Compounds for PNPLA2 Gene

(6) Drugs for PNPLA2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
MYRISTIC ACID Experimental Pharma 0
Palmitic Acid Experimental Pharma Full agonist, Agonist 20
Stearic acid Experimental Pharma 0
Tridecanoic acid Experimental Pharma 0
arachidonic acid Experimental Nutra Activator 27

(18) Additional Compounds for PNPLA2 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 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) (x6.5) and Adipose - Subcutaneous (x5.6).

Protein differential expression in normal tissues from HIPED for PNPLA2 Gene

This gene is overexpressed in Breast (19.6), Nasopharynx (10.1), Saliva (7.9), and Plasma (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PNPLA2: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for PNPLA2 Gene

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 36
  • 99 (a)
OneToOne
PNPLA2 35
  • 99.4 (n)
  • 99.4 (a)
cow
(Bos Taurus)
Mammalia PNPLA2 36
  • 86 (a)
OneToOne
PNPLA2 35
  • 88.82 (n)
  • 88.17 (a)
dog
(Canis familiaris)
Mammalia PNPLA2 35
  • 87.14 (n)
  • 90.36 (a)
PNPLA2 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pnpla2 16
Pnpla2 35
  • 84.42 (n)
  • 88.96 (a)
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 36
  • 22 (a)
OneToMany
C05D11.7 35
  • 45.41 (n)
  • 40.68 (a)
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

(5) 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 influence plasma free fatty acids and 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
VAR_032995 Neutral lipid storage disease with myopathy (NLSDM)
VAR_032996 -
rs140201358 - 823,586(+) CGGAA(C/G)GGTGC reference, missense
VAR_032998 -
rs1135628 -- 823,809(+) CTGCC(A/C/G/T)GGAGA reference, synonymous-codon

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

Variation tolerance for PNPLA2 Gene

Residual Variation Intolerance Score: 82.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.54; 44.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PNPLA2 Gene

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

Disorders for PNPLA2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PNPLA2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neutral lipid storage disease with myopathy
  • neutral lipid storage disease without ichthyosis
neutral lipid storage disease
  • chanarin-dorfman syndrome
lipid storage disease
  • inborn lipid storage disorder
chanarin-dorfman syndrome
  • cds
myopathy
  • muscular diseases
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PLPL2_HUMAN
  • Note=Genetic variations in PNPLA2 may be associated with risk of diabetes mellitus type 2. {ECO:0000269 PubMed:16644682}.
  • 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.

Relevant External Links for PNPLA2

Genetic Association Database (GAD)
PNPLA2
Human Genome Epidemiology (HuGE) Navigator
PNPLA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PNPLA2
genes like me logo Genes that share disorders with PNPLA2: view

No data available for Genatlas for PNPLA2 Gene

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 67
  2. Characterization of desnutrin functional domains: critical residues for triacylglycerol hydrolysis in cultured cells. (PMID: 19692632) Duncan R.E. … Sul H.S. (J. Lipid Res. 2010) 3 23
  3. 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
  4. Pigment epithelium-derived factor receptor (PEDF-R): a plasma membrane-linked phospholipase with PEDF binding affinity. (PMID: 20237999) Subramanian P. … Becerra S.P. (Adv. Exp. Med. Biol. 2010) 3 23
  5. Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions. (PMID: 19029121) Kienesberger P.C. … Zechner R. (J. Lipid Res. 2009) 2 3

Products for PNPLA2 Gene

Sources for PNPLA2 Gene

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