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PNPLA2 Gene

protein-coding   GIFtS: 64
GCID: GC11P000821

Patatin-Like Phospholipase Domain Containing 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Patatin-Like Phospholipase Domain Containing 21 2     PEDF-R2
ATGL2 3 5     TTS-2.22
TTS22 3 5     desnutrin2
Adipose Triglyceride Lipase2 3     iPLA2zeta2
Calcium-Independent Phospholipase A22 3     Patatin-Like Phospholipase Domain Containing Protein 22
Pigment Epithelium-Derived Factor2 3     Patatin-Like Phospholipase Domain-Containing Protein 22
IPLA2-zeta2 3     Transport-Secretion Protein 2.22
TTS2.22 3     Triglyceride Hydrolase2
EC 3.1.1.33 8     Desnutrin3
1110001C14Rik2     Transport-Secretion Protein 23

External Ids:    HGNC: 308021   Entrez Gene: 571042   Ensembl: ENSG000001776667   OMIM: 6090595   UniProtKB: Q96AD53   

Export aliases for PNPLA2 gene to outside databases

Previous GC identifers: GC11P000808 GC11P000634 GC11P000819


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 lipid storage disease, and neutral lipid storage disease with myopathy. GO annotations related to this gene include triglyceride lipase activity. An important paralog of this gene is PNPLA4.

UniProtKB/Swiss-Prot: PLPL2_HUMAN, Q96AD5
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

Gene Wiki entry for PNPLA2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PNPLA2 gene promoter:
         STAT1   Pax-5   p53   p300   MyoD   STAT1beta   AP-4   STAT1alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PNPLA2 promoter sequence
   Search Chromatin IP Primers for PNPLA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PNPLA2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

PNPLA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PNPLA2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P000821:  view genomic region     (about GC identifiers)

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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PLPL2_HUMAN, Q96AD5 (See protein sequence)
Recommended Name: Patatin-like phospholipase domain-containing protein 2  
Size: 504 amino acids; 55316 Da
Subunit: 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)
Developmental stage: Induced during differentiation of primary preadipocytes to adipocytes. Expression increased
from fetal to adult in retinal pigment epithelium
Sequence caution: Sequence=AAP34448.1; Type=Frameshift; Positions=501; Sequence=CAC01131.1; Type=Erroneous
initiation; Sequence=CAC01132.1; Type=Erroneous initiation;
Secondary accessions: O60643 Q5EFF5 Q6XYE5 Q96ET6 Q9NQ61 Q9NQ62
Alternative splicing: 2 isoforms:  Q96AD5-1   Q96AD5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PNPLA2: NX_Q96AD5

Explore proteomics data for PNPLA2 at MOPED

Post-translational modifications: 

  • 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
    stimulation1
  • Ubiquitination2 at Lys100, Lys224, Lys435
  • Glycosylation2 at Asn39
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PNPLA2 (Q96AD5) (see all 6)
     TITVSPF  YCGLIPP  RAKRKLG  RLNEALLEAC 


    See PNPLA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065109.1  
    ENSEMBL proteins: 
     ENSP00000337701  
    Reactome Protein details: Q96AD5

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PNPLA: Patatin-like phospholipase domain containing

    2 InterPro protein domains:
     IPR016035 Acyl_Trfase/lysoPLipase
     IPR002641 Patatin/PLipase_A2-rel

    Graphical View of Domain Structure for InterPro Entry Q96AD5

    ProtoNet protein and cluster: Q96AD5

    UniProtKB/Swiss-Prot: PLPL2_HUMAN, Q96AD5
    Similarity: Contains 1 patatin domain


    PNPLA2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PLPL2_HUMAN, Q96AD5
    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
    Catalytic activity: Triacylglycerol + H(2)O = diacylglycerol + a carboxylate
    Enzyme regulation: 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
    Biophysicochemical properties: pH dependence: Optimum pH is 7.5 with (1,2-dilinoleoyl)-phosphatidylcholine as
    substrate;

         Enzyme Number (IUBMB): EC 3.1.1.31 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004806triglyceride lipase activity ISS--
    GO:0005515protein binding ----
         
    PNPLA2 for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Pnpla2):
     adipose tissue  cardiovascular system  cellular  endocrine/exocrine gland  growth/size/body 
     homeostasis/metabolism  integument  liver/biliary system  mortality/aging  muscle 
     respiratory system 

    PNPLA2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pnpla2tm1Rze for PNPLA2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PNPLA2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PNPLA2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PNPLA2

    miRNA
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    miRTarBase miRNAs that target PNPLA2:
    hsa-mir-124-3p (MIRT023204), hsa-mir-148b-3p (MIRT019467)

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    6 qRT-PCR Assays for microRNAs that regulate PNPLA2:
    hsa-miR-3910 hsa-miR-124 hsa-miR-377 hsa-miR-506 hsa-miR-552 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidPNPLA2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNPLA2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PLPL2_HUMAN, Q96AD5: Lipid droplet. Cell membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum4
    cytosol2
    extracellular1
    golgi apparatus1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005811lipid particle IDA--
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane IEA--

    PNPLA2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PNPLA2 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    2Glycerolipid metabolism
    Glycerolipid metabolism
    Acyl chain remodeling of DAG and TAG0.00
    3Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Phospholipid metabolism0.64
    4triacylglycerol biosynthesis
    Triacylglyceride Synthesis0.36
    5Mitochondrial LC-Fatty Acid Beta-Oxidation
    Fatty Acid Beta Oxidation0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for PNPLA2
        Glucose / Energy Metabolism

    3 BioSystems Pathways for PNPLA2
        Fatty Acid Beta Oxidation
    Triacylglyceride Synthesis
    triacylglycerol degradation

    1 Reactome Pathway for PNPLA2
        Acyl chain remodeling of DAG and TAG


    2 Kegg Pathways  (Kegg details for PNPLA2):
        Glycerolipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PLPL2_HUMAN, Q96AD5
    Pathway: Glycerolipid metabolism; triacylglycerol degradation


    PNPLA2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PNPLA2
    Interactions:

        GeneGlobe Interaction Network for PNPLA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for PNPLA2 (Q96AD52, 3 ENSP000003377014) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MARK3P274482, 3, ENSP000004113974MINT-63622 I2D: score=5 STRING: ENSP00000411397
    UBE2R2Q712K32, 3, ENSP000002632284MINT-8276291 I2D: score=2 STRING: ENSP00000263228
    SMAD9O151982, 3MINT-62139 I2D: score=3 
    EGFRP005333, ENSP000002754934I2D: score=1 STRING: ENSP00000275493
    PHYHIPQ925613I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0006644phospholipid metabolic process TAS--
    GO:0008152metabolic process ----
    GO:0010891negative regulation of sequestering of triglyceride IDA16679289
    GO:0010898positive regulation of triglyceride catabolic process IDA16679289

    PNPLA2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PNPLA2 (PLPL2)

    Selected HMDB Compounds for PNPLA2 (see all 1141)    About this table
    CompoundSynonyms CAS #PubMed Ids
    TG(15:0/16:0/20:2(11Z,14Z))[iso6]Tracylglycerol(15:0/16:0/20:2) (see all 15)--12486725
    TG(15:0/16:0/20:3(8Z,11Z,14Z))[iso6]TAG(15:0/16:0/20:3n6) (see all 16)--12486725
    TG(15:0/16:0/20:4(5Z,8Z,11Z,14Z))[iso6]TAG(15:0/16:0/20:4n6) (see all 15)--12486725
    TG(15:0/18:0/18:2(9Z,12Z))[iso6]TG(15:0/18:0/18:2w6) (see all 15)--12486725
    TG(15:0/18:0/18:3(9Z,12Z,15Z))[iso6]TAG(51:3) (see all 16)--12486725
    TG(15:0/18:1(9Z)/16:0)[iso6]Tracylglycerol(15:0/18:1w9/16:0) (see all 15)--12486725
    TG(15:0/18:1(9Z)/16:1(9Z))[iso6]TG(15:0/18:1/16:1) (see all 15)--12486725
    TG(15:0/18:1(9Z)/18:1(9Z))[iso3]TG(15:0/18:1n9/18:1n9) (see all 15)--12486725
    TG(15:0/18:1(9Z)/18:2(9Z,12Z))[iso6]Tracylglycerol(15:0/18:1/18:2) (see all 15)--12486725
    TG(15:0/18:1(9Z)/18:3(9Z,12Z,15Z))[iso6]Tracylglycerol(15:0/18:1/18:3) (see all 16)--12486725

    7 Novoseek inferred chemical compound relationships for PNPLA2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    triacylglycerol 78.8 48 19692632 (4), 18357681 (2), 20197052 (2), 18952573 (2) (see all 15)
    monoacylglycerol 67.3 7 15971411 (1), 18952573 (1), 18288265 (1), 17032652 (1)
    lipid 60.4 82 18445677 (4), 17872589 (4), 18445597 (3), 19850935 (2) (see all 26)
    fatty acid 49.9 12 16467150 (1), 18980248 (1), 15356070 (1), 19423542 (1) (see all 7)
    glycerol 39.6 1 20023287 (1)
    catecholamine 8.54 2 16644234 (1), 16249444 (1)
    glucose 3.2 3 18072017 (2), 19636223 (1)



    PNPLA2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PNPLA2 gene: 
    NM_020376.3  

    Unigene Cluster for PNPLA2:

    Patatin-like phospholipase domain containing 2
    Hs.654697  [show with all ESTs]
    Unigene Representative Sequence: NM_020376
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000336615(uc001lrt.3 uc009ycl.3) ENST00000525250 ENST00000534561
    ENST00000531923 ENST00000529255 ENST00000526083
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    hsa-miR-3910 hsa-miR-124 hsa-miR-377 hsa-miR-506 hsa-miR-552 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidPNPLA2 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat PNPLA2

    Additional mRNA sequence: 

    AF055000.1 AJ278475.1 AJ278476.1 AK308435.1 AL833707.1 AY894804.1 BC011958.1 BC017280.2 
    HQ651812.1 JF279441.1 JF279442.1 

    17 DOTS entries:

    DT.100037372  DT.449874  DT.100817137  DT.120756475  DT.120756498  DT.120756512  DT.86847431  DT.95356981 
    DT.95098221  DT.95356987  DT.95356989  DT.95111992  DT.95356979  DT.120756472  DT.120756491  DT.120756505 
    DT.75151203 

    Selected AceView cDNA sequences (see all 166):

    BE463415 AI203639 NM_020376 BU145220 AL833707 CD721769 BM819577 BF766056 
    AI740784 BU849759 BQ928246 BG677471 AI075946 AI056563 BU174057 CD518845 
    AL045161 AI470237 AI167722 CF132150 BI771864 CA417432 BF569235 BU931032 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PNPLA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATAAATGC
    PNPLA2 Expression
    About this image


    PNPLA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Body Subcutaneous White Adipose
     
     Pancreas (Endocrine System)
    PNPLA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PNPLA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654697

    UniProtKB/Swiss-Prot: PLPL2_HUMAN, Q96AD5
    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)

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PNPLA2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pnpla21 , 5 patatin-like phospholipase domain containing 21, 5 84.42(n)1
    88.96(a)1
      7 (86.81 cM)5
    668531  NM_001163689.11  NP_001157161.11 
     1414551985 
    chicken
    (Gallus gallus)
    Aves PNPLA21 patatin-like phospholipase domain containing 2 69.58(n)
    71.4(a)
      431066  NM_001113291.1  NP_001106762.1 
    lizard
    (Anolis carolinensis)
    Reptilia PNPLA26
    patatin-like phospholipase domain containing 2
    70(a)
    1 ↔ 1
    1(73687459-73931145)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA793811.12   -- 74.72(n)    CA793811.1 
    zebrafish
    (Danio rerio)
    Actinopterygii PNPLA26
    patatin-like phospholipase domain containing 2
    78(a)
    1 ↔ 1
    25(4761455-4784871) ENSDARG00000073955
    fruit fly
    (Drosophila melanogaster)
    Insecta dob6
    bmm6
    brummer
    30(a)
    27(a)
    many ↔ many
    many ↔ many
    X(14961036-14963124)
    3L(14769596-14779512)
    worm
    (Caenorhabditis elegans)
    Secernentea C05D11.71 C05D11.7 45.41(n)
    40.68(a)
      175910  NM_171168.5  NP_741196.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PNPLA2 gene
    PNPLA42  PNPLA12  PNPLA52  PNPLA32  
    5 SIMAP similar genes for PNPLA2 using alignment to 2 protein entries:     PLPL2_HUMAN (see all proteins):
    ATGL    PNPLA1    PNPLA4    PNPLA3    PNPLA5

    PNPLA2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    PLPL2_HUMAN, Q96AD5: Genetic variations in PNPLA2 may be associated with plasma free fatty acids, triglycerides levels,
    and fasting glucose concentrations


    Selected SNPs for PNPLA2 (see all 281)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0329954
    Neutral lipid storage disease with myopathy (NLSDM)4--see VAR_0329952 P L mis40--------
    rs1487951111,2
    C--753651(+) ACCGTA/GTTAGC 1 -- us2k10--------
    rs122787921,2
    --753689(+) tgatcC/Tgcccg 1 -- us2k10--------
    rs1882726961,2
    --753693(+) CTGCCC/TGCCTT 1 -- us2k10--------
    rs65979781,2
    C,F,A--753881(-) tactcG/Cggagg 1 -- us2k17Minor allele frequency- C:0.21NA WA CSA 14
    rs1928459151,2
    C--753982(+) GGTCTC/TGATCT 1 -- us2k10--------
    rs1845895681,2
    --754043(+) GGTGTA/GAGCCA 1 -- us2k10--------
    rs1178578101,2
    C,F--754104(+) TTGCCT/AAGGCT 1 -- us2k12Minor allele frequency- A:0.12NA EA 240
    rs1433022401,2
    C--754157(+) TCCCAC/GAGTGC 1 -- us2k10--------
    rs1451503761,2
    --754200(+) CTAGAA/GGGAGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PNPLA2 (818901 - 825573 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PNPLA2 (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv182e199CNV Deletion23128226
    nsv832044CNV Loss17160897
    dgv951n71CNV Loss21882294
    nsv469923CNV Loss18288195
    nsv896601CNV Loss21882294
    dgv946n71CNV Loss21882294
    dgv944n71CNV Loss21882294
    dgv921n71CNV Loss21882294
    dgv936n71CNV Loss21882294
    dgv945n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): PNPLA2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PNPLA2
    DNA2.0 Custom Variant and Variant Library Synthesis for PNPLA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609059   
    OMIM disorders: 610717  
    UniProtKB/Swiss-Prot: PLPL2_HUMAN, Q96AD5
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 19 diseases for PNPLA2:    
    About MalaCards
    lipid storage disease    neutral lipid storage disease with myopathy    vesiculitis    neutral lipid storage disease
    systemic primary carnitine deficiency disease    obesity, association with    familial combined hyperlipidemia    myopathy
    insulin resistance    polycystic ovary syndrome    obesity    epididymitis
    retinoblastoma    diabetes mellitus    retinitis    multiple myeloma
    endotheliitis    myeloma    hepatitis

    2 diseases from the University of Copenhagen DISEASES database for PNPLA2:
    Neutral lipid storage disease     Systemic primary carnitine deficiency disease

    PNPLA2 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for PNPLA2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    obesity 54.8 23 16752181 (3), 17327373 (2), 16009485 (2), 17609260 (2) (see all 9)
    insulin resistance 45 8 17356053 (2), 16009485 (2), 17970534 (1)
    metabolic disorder 32.4 3 16009485 (1)
    tumors 4.6 2 17970534 (1), 16009485 (1)
    necrosis 0 2 17970534 (1), 16009485 (1)

    Genetic Association Database (GAD): PNPLA2
    Human Genome Epidemiology (HuGE) Navigator: PNPLA2 (9 documents)

    Export disorders for PNPLA2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PNPLA2 gene, integrated from 10 sources (see all 128):
    (articles sorted by number of sources associating them with PNPLA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The ATGL gene is associated with free fatty acids, triglycerides, and type 2 diabetes. (PubMed id 16644682)1, 2, 4, 9 Schoenborn V....Kronenberg F. (Diabetes 2006)
    2. ATGL has a key role in lipid droplet/adiposome degradation in mammalian cells. (PubMed id 16239926)1, 2, 9 Smirnova E....Jackson C.L. (EMBO Rep. 2006)
    3. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. (PubMed id 17187067)1, 2, 9 Fischer J.... Salvayre R. (Nat. Genet. 2007)
    4. Identification of a lipase-linked cell membrane receptor for pigment epithelium-derived factor. (PubMed id 17032652)1, 2, 9 Notari L.... Becerra S.P. (J. Biol. Chem. 2006)
    5. Rare ATGL haplotypes are associated with increased plasma triglyceride concentrations in the Greenland Inuit. (PubMed id 20167152)1, 4, 9 Johansen C.T....Hegele R.A. (Int J Circumpolar Health 2010)
    6. Genetic variants in adipose triglyceride lipase influence lipid levels in familial combined hyperlipidemia. (PubMed id 20832801)1, 4 Nanni L....Arca M. (Atherosclerosis 2010)
    7. High frequency of ETFDH c.250G&gt;A mutation in Taiwanese patients with late-onset lipid storage myopathy. (PubMed id 20370797)1, 4 Lan M.Y....Chen S.S. (Clin. Genet. 2010)
    8. Genetic variance in the adiponutrin gene family and childhood obesity. (PubMed id 19390624)1, 4 Johansson L.E....RidderstrAYle M. (PLoS ONE 2009)
    9. Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions. (PubMed id 19029121)1, 3 Kienesberger P.C.... Zechner R. (J. Lipid Res. 2009)
    10. Clinical and genetic analysis of lipid storage myopathies. (PubMed id 19208393)1, 4 Ohkuma A....Nishino I. (amp 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57104 HGNC: 30802 AceView: MGC45840andPNPLA2 Ensembl:ENSG00000177666 euGenes: HUgn57104
    ECgene: PNPLA2 Kegg: 57104 H-InvDB: PNPLA2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PNPLA2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PNPLA2 gene:
    Search GeneIP for patents involving PNPLA2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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