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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PNPLA2 Gene

protein-coding   GIFtS: 63
GCID: GC11P000819

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)
About This Section

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


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Metabolic pathways and Glycerophospholipid biosynthesis. GO annotations related to this gene include retinyl-palmitate esterase activity and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_009237.18  NC_018922.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PNPLA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC11P000819:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Lipid droplet. Cell membrane; Single-pass type II membrane protein
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:

  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96AD5

  • 4/6 DME Specific Peptides for PNPLA2 (Q96AD5) (see all 6)
     TITVSPF  YCGLIPP  RAKRKLG  RLNEALLEAC 

    PNPLA2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PNPLA2 Protein Expression
    REFSEQ proteins: NP_065109.1  
    ENSEMBL proteins: 
     ENSP00000337701  
    Reactome Protein details: Q96AD5
    Human Recombinant Protein Products for PNPLA2: 
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    Novus Biologicals PNPLA2 Proteins
    Novus Biologicals PNPLA2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PNPLA2 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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 to membrane IEA--

    PNPLA2 for ontologies           About GeneDecksing



    PNPLA2 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004806triglyceride lipase activity ISS--
    GO:0005515protein binding ----
    GO:0050253retinyl-palmitate esterase activity ----
         
    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 
     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 - Custom generated mouse model solutions for PNPLA2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PNPLA2

       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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    6 QIAGEN miScript miRNA 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
    Products:
        
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    Clone
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    Browse Sino Biological Human cDNA Clones
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                         Customized lentivirus expression plasmids for stable overexpression of PNPLA2 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNPLA2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PNPLA2 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    2Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Phospholipid metabolism0.64
    3CDP-diacylglycerol biosynthesis I
    Triacylglyceride Synthesis0.36
    4Fatty Acid Beta Oxidation
    Fatty Acid Beta Oxidation0.35
    5triacylglycerol degradation
    triacylglycerol degradation

    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

    5        Reactome Pathways for PNPLA2
        Glycerophospholipid biosynthesis
    Metabolism
    Phospholipid metabolism
    Acyl chain remodeling of DAG and TAG
    Metabolism of lipids and lipoproteins


    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PNPLA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/9 Interacting proteins for PNPLA2 (Q96AD52, 3 ENSP000003377014) via UniProtKB, MINT, STRING, and/or I2D (see all 9)

    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): 5/9 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PNPLA2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PNPLA2 (PLPL2)

    10/1141 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)

    Search CenterWatch for drugs/clinical trials and news about PNPLA2 / PLPL2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidPNPLA2 3' UTR sequence
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      QIAGEN 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 

    24/166 AceView cDNA sequences (see all 166):

    BI771864 BF590531 AI807133 AL045161 BQ433256 BC017280 BQ917362 AI470237 
    BM819577 AW137229 BU931032 BQ926469 AI203639 AI075946 BU145220 BE463415 
    BG677471 AL833707 BF766056 BQ928246 CD514399 NM_020376 BU174057 AI740784 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PNPLA2 expression in normal human tissues (normalized intensities)      PNPLA2 embryonic expression: see
    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 
     5/2 selected tissues (see all 2) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 3 entries
             Body Subcutaneous White Adipose
             adipose tissue   
     
     Pancreas (Endocrine System)

    See PNPLA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PNPLA2

    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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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PNPLA2 gene from 7/13 species (see all 13)    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 83.96(n)1
    88.45(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 69.35(n)
    71.3(a)
      431066  NM_001113291.1  NP_001106762.1 
    lizard
    (Anolis carolinensis)
    Reptilia PNPLA26
    patatin-like phospholipase domain containing 2
    69(a)
    1 ↔ 1
    1(73687459-73931145)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA793811.12   -- 74.72(n)    CA793811.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pnpla31 patatin-like phospholipase domain containing 3 61.48(n)
    59.25(a)
      436610  NM_001002338.1  NP_001002338.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dob6
    bmm6
    brummer
    28(a)
    26(a)
    many ↔ many
    many ↔ many
    X(14961036-14963124)
    3L(14769596-14779512)
    worm
    (Caenorhabditis elegans)
    Secernentea C05D11.71 Protein C05D11.7 44.97(n)
    40.68(a)
      175910  NM_171168.4  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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: PLPL2_HUMAN, Q96AD5
    Polymorphism: Genetic variations in PNPLA2 may be associated with plasma free fatty acids, triglycerides levels,
    and fasting glucose concentrations


    10/281 SNPs in PNPLA2 are shown (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--------
    VAR_0329964
    ----see VAR_0329962 L F 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--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/20 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
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 17 diseases for PNPLA2:    About MalaCards
    lipid storage disease    neutral lipid storage disease with myopathy    neutral lipid storage disease    obesity, association with
    vesiculitis    familial combined hyperlipidemia    myopathy    metabolic disorders
    insulin resistance    ichthyosis    obesity    polycystic ovary syndrome
    retinoblastoma    retinitis    diabetes mellitus    endotheliitis
    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)
    About This Section

    PubMed articles for PNPLA2 gene, integrated from 9 sources (see all 125):
    (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. (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. (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. (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. (2006)
    5. Rare ATGL haplotypes are associated with increased pl asma triglyceride concentrations in the Greenland Inuit. (PubMed id 20167152)1, 4, 9 Johansen C.T....Hegele R.A. (2010)
    6. Genetic variants in adipose triglyceride lipase influ ence lipid levels in familial combined hyperlipidemia. (PubMed id 20832801)1, 4 Nanni L....Arca M. (2010)
    7. High frequency of ETFDH c.250G>A mutation in Taiwa nese patients with late-onset lipid storage myopathy. (PubMed id 20370797)1, 4 Lan M.Y....Chen S.S. (2010)
    8. Mammalian patatin domain containing proteins: a famil y with diverse lipolytic activities involved in multiple biological functions. (PubMed id 19029121)1, 3 Kienesberger P.C....Zechner R. (2009)
    9. Genetic variance in the adiponutrin gene family and childhood obesity. (PubMed id 19390624)1, 4 Johansson L.E....RidderstrAYle M. (2009)
    10. Clinical and genetic analysis of lipid storage myopathies. (PubMed id 19208393)1, 4 Ohkuma A....Nishino I. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 57104 HGNC: 30802 AceView: MGC45840andPNPLA2 Ensembl:ENSG00000177666 euGenes: HUgn57104
    ECgene: PNPLA2 Kegg: 57104 H-InvDB: PNPLA2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    About This Section

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