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PNPLA3 Gene

protein-coding   GIFtS: 62
GCID: GC22P044319

Patatin-Like Phospholipase Domain Containing 3

(Previous names: chromosome 22 open reading frame 20, adiponutrin)
(Previous symbols: C22orf20, ADPN)
  See PNPLA3-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 31 2     Chromosome 22 Open Reading Frame 201
ADPN1 2 3 5     iPLA(2)epsilon2
C22orf201 2 3     iPLA2epsilon2
adiponutrin1 2     Patatin-Like Phospholipase Domain-Containing Protein 32
Acylglycerol O-Acyltransferase2 3     Adiponutrin3
Calcium-Independent Phospholipase A2-Epsilon2 3     EC 2.3.1.-3
iPLA2-epsilon2 3     EC 2.7.7.568
EC 3.1.1.33 8     EC 4.2.3.48

External Ids:    HGNC: 185901   Entrez Gene: 803392   Ensembl: ENSG000001003447   OMIM: 6095675   UniProtKB: Q9NST13   

Export aliases for PNPLA3 gene to outside databases

Previous GC identifers: GC22P042651 GC22P027273


(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 PNPLA3 Gene:
The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in
adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy
usage/storage in adipocytes. (provided by RefSeq, Jul 2008)

GeneCards Summary for PNPLA3 Gene:
PNPLA3 (patatin-like phospholipase domain containing 3) is a protein-coding gene. Diseases associated with PNPLA3 include pnpla3-related susceptibility to nonalchoholic fatty liver disease, and fatty liver disease. GO annotations related to this gene include mono-olein transacylation activity and phospholipase A2 activity. An important paralog of this gene is PNPLA4.

UniProtKB/Swiss-Prot: PLPL3_HUMAN, Q9NST1
Function: Multifunctional enzyme which has both triacylglycerol lipase and acylglycerol O-acyltransferase
activities

Gene Wiki entry for PNPLA3 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 at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the PNPLA3 gene promoter:
         HOXA9B   HOXA9   Spz1   Meis-1b   PPAR-gamma1   HOXA5   PPAR-gamma2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPNPLA3 promoter sequence
   Search Chromatin IP Primers for PNPLA3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PNPLA3


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

Entrez Gene cytogenetic band: 22q13.31   Ensembl cytogenetic band:  22q13.31   HGNC cytogenetic band: 22q13.31

PNPLA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PNPLA3 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P044319:  view genomic region     (about GC identifiers)

Start:
44,319,619 bp from pter      End:
44,360,368 bp from pter
Size:
40,750 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PLPL3_HUMAN, Q9NST1 (See protein sequence)
Recommended Name: Patatin-like phospholipase domain-containing protein 3  
Size: 481 amino acids; 52865 Da
Secondary accessions: B0QYI0 B2RCL3 B3KW00 Q6P1A1 Q96CB4
Alternative splicing: 2 isoforms:  Q9NST1-1   Q9NST1-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PNPLA3: NX_Q9NST1

Explore proteomics data for PNPLA3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn89, Asn280
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for PNPLA3 (Q9NST1)
     TITVSPF  DLKVLGE  LDTLSPR 


    See PNPLA3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079501.2  
    ENSEMBL proteins: 
     ENSP00000216180   ENSP00000384668   ENSP00000397987  
    Reactome Protein details: Q9NST1

    PNPLA3 Human Recombinant Protein Products:

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    antibodies-online proteins for PNPLA3 (4 products) 

     
    antibodies-online peptides for PNPLA3

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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 Q9NST1

    ProtoNet protein and cluster: Q9NST1

    UniProtKB/Swiss-Prot: PLPL3_HUMAN, Q9NST1
    Similarity: Contains 1 patatin domain


    Find genes that share domains with PNPLA3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PLPL3_HUMAN, Q9NST1
    Function: Multifunctional enzyme which has both triacylglycerol lipase and acylglycerol O-acyltransferase
    activities
    Catalytic activity: Triacylglycerol + H(2)O = diacylglycerol + a carboxylate
    Induction: By changes in energy balance: down-regulated following very low-calorie diet, whereas refeeding
    elevates the mRNA level

         Enzyme Numbers (IUBMB): EC 3.1.1.31 2 EC 2.7.7.562 EC 4.2.3.42 EC 2.3.1.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004623phospholipase A2 activity IDA15364929
    GO:0004806triglyceride lipase activity IDA15364929
    GO:0051264mono-olein transacylation activity IDA15364929
    GO:0051265diolein transacylation activity IDA15364929
         
    Find genes that share ontologies with PNPLA3           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for PNPLA3:
     G0/1 arrest  Increased G1 DNA content  Increased number of mitotic ce 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Pnpla3):
     homeostasis/metabolism 

    Find genes that share phenotypes with PNPLA3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pnpla3tm1Eek for PNPLA3

       genOway: Develop your customized and physiologically relevant rodent model for PNPLA3

    miRNA
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    miRTarBase miRNAs that target PNPLA3:
    hsa-mir-335-5p (MIRT016844)

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    1 qRT-PCR Assays for microRNA that regulate PNPLA3:
    hsa-miR-421
    SwitchGear 3'UTR luciferase reporter plasmidPNPLA3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PNPLA3

    Gene Editing
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    Sino Biological Human cDNA Clone for PNPLA3
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    (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
    PLPL3_HUMAN, Q9NST1: Membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    cytosol2
    nucleus2
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016020membrane ISS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with PNPLA3           About GenesLikeMe


    (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 PNPLA3 About    
    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
    4Eicosanoid Synthesis
    Eicosanoid Synthesis
    5Adipogenesis
    Adipogenesis


    Find genes that share SuperPaths with PNPLA3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for PNPLA3
        Adipogenesis
    Eicosanoid Synthesis


    1 Reactome Pathway for PNPLA3
        Acyl chain remodeling of DAG and TAG


    2 Kegg Pathways  (Kegg details for PNPLA3):
        Glycerolipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PLPL3_HUMAN, Q9NST1
    Pathway: Glycerolipid metabolism; triacylglycerol degradation

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PNPLA3: 

              Fatty Liver in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PNPLA3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PNPLA3 (ENSP000002161804) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CELENSP000003611514STRING: ENSP00000361151
    DGAT1ENSP000003322584STRING: ENSP00000332258
    DGAT2ENSP000002280274STRING: ENSP00000228027
    DGKQENSP000002738144STRING: ENSP00000273814
    LIPCENSP000002990224STRING: ENSP00000299022
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0006644phospholipid metabolic process TAS--
    GO:0008152metabolic process ----
    GO:0019432triglyceride biosynthetic process IDA15364929
    GO:0019433triglyceride catabolic process IEA--

    Find genes that share ontologies with PNPLA3           About GenesLikeMe



    (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 PNPLA3 (PLPL3)

    Selected HMDB Compounds for PNPLA3 (see all 1142)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Arachidic acidArachate (see all 10)506-30-9--
    Arachidonic acid5,8,11,14-Eicosatetraenoic acid (see all 16)506-32-1--
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----

    10 Novoseek inferred chemical compound relationships for PNPLA3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    triacylglycerol 89.7 61 1806988 (5), 8100488 (3), 9186906 (2), 11750885 (2) (see all 44)
    monoacylglycerol 57.6 2 11750885 (1), 15364929 (1)
    fatty acid 38.1 1 16413620 (1)
    lipid 31.4 3 17100551 (1), 8055107 (1), 16150821 (1)
    phospholipid 28.4 2 8053904 (1), 11018468 (1)
    alanine 23.7 2 8100488 (1), 20373368 (1)
    heparin 6.88 1 8055107 (1)
    serine 2.11 2 8762132 (1), 16150821 (1)
    cholesterol 0 4 11076952 (1), 19729411 (1)
    glucose 0 3 16914601 (2), 17100551 (1)



    Find genes that share compounds with PNPLA3           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PNPLA3 gene: 
    NM_025225.2  

    Unigene Cluster for PNPLA3:

    Patatin-like phospholipase domain containing 3
    Hs.654800  [show with all ESTs]
    Unigene Representative Sequence: AL138578
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216180(uc003bei.1) ENST00000406117(uc010gzm.1) ENST00000423180
    ENST00000478713 ENST00000497129
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK025665.1 AK123806.1 AK315166.1 AL138578.2 BC014449.1 BC065195.1 CR456476.1 

    4 DOTS entries:

    DT.75180059  DT.100711317  DT.120660357  DT.92009332 

    Selected AceView cDNA sequences (see all 57):

    BG315192 CD673552 BU145607 CD673551 CR623185 AL138578 NM_025225 BQ637622 
    BQ680975 BX353229 AW300718 BU184578 BM719391 AI262313 BC014449 BG766757 
    AK025665 BM042390 BG315476 BU838158 AK123806 BU180209 BX391133 AW516390 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PNPLA3    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
    SP1:        -     -                                                               
    SP2:              -                                                               
    SP3:                                                                              
    SP4:              -                                                               


    ECgene alternative splicing isoforms for PNPLA3

    (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)
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    PNPLA3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PNPLA3 Expression
    About this image

    PNPLA3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PNPLA3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654800
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PNPLA3: 
              Fatty Liver in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNPLA3

    (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 PNPLA3 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pnpla31 , 5 patatin-like phospholipase domain containing 31, 5 74.22(n)1
    71.61(a)1
      15 (39.78 cM)5
    1169391  NM_054088.31  NP_473429.21 
     841678165 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    43(a)
    1 → many
    1(69195836-69242099)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    40(a)
    1 → many
    5(85884549-85917398)
    zebrafish
    (Danio rerio)
    Actinopterygii pnpla36
    patatin-like phospholipase domain containing 3
    38(a)
    1 → many
    Zv9_scaffold3512(30685-45752) ENSDARG00000044086
    fruit fly
    (Drosophila melanogaster)
    Insecta dob6
    bmm6
    brummer
    27(a)
    25(a)
    many ↔ many
    many ↔ many
    X(14961036-14963124)
    3L(14769596-14779512)
    worm
    (Caenorhabditis elegans)
    Secernentea C05D11.76
    Protein C05D11.7, isoform b
    20(a)
    1 → many
    III(6415772-6421712) WBGene00015484


    ENSEMBL Gene Tree for PNPLA3 (if available)
    TreeFam Gene Tree for PNPLA3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PNPLA3 gene
    PNPLA42  PNPLA22  PNPLA12  PNPLA52  
    5 SIMAP similar genes for PNPLA3 using alignment to 4 protein entries:     PLPL3_HUMAN (see all proteins):
    PNPLA1    ATGL    PNPLA2    PNPLA4    PNPLA5

    Find genes that share paralogs with PNPLA3           About GenesLikeMe



    (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
    PLPL3_HUMAN, Q9NST1: Polymorphic variation at position 148 influences insulin secretion levels and obesity. In obese
    subjects the body mass index and waist are higher in carriers of the Ile-148 allele. The Ile-148 carriers also
    display decreased insulin secretion in response to oral glucose tolerance test. Met-148 allele carriers are
    seemingly more insulin resistant at a lower body mass index


    Selected SNPs for PNPLA3 (see all 725)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs749226341,2
    F--28235239(+) CAGTTA/GGGGCA 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs60064591,2
    --28235250(+) GGACTC/GTAGGT 1 -- us2k10--------
    rs738884901,2
    C,F--28235291(+) AGGAAT/CAGATG 1 -- us2k13Minor allele frequency- C:0.22WA CSA 122
    rs1506430851,2
    --28235727(+) AGAAGC/GGGGAG 1 -- us2k10--------
    rs96260551,2
    C,F,A,H--28235784(+) AGGGTC/TCTCCA 1 -- us2k112Minor allele frequency- T:0.04EA NS NA WA 1468
    rs119138681,2
    C,F,A,H--28235822(+) TTGGCT/CCCATG 1 -- us2k13Minor allele frequency- C:0.08WA CSA 121
    rs1397289891,2
    --28235828(+) CCATGC/TACTGC 1 -- us2k10--------
    rs1497251691,2
    C--28235928(+) TGTGTC/TCCCAC 1 -- us2k10--------
    rs119133361,2
    C,F,H--28236003(+) aggtgA/Ttttga 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1836769921,2
    --28236022(+) TGGCAA/CCCTTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PNPLA3 (44319619 - 44360368 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for PNPLA3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv274297CNV Insertion20981092
    esv269894CNV Insertion20981092
    nsv513592CNV Insertion21212237
    nsv829265CNV Loss20364138
    nsv834218CNV Loss17160897
    nsv834219CNV Gain17160897
    nsv528458CNV Gain19592680

    Human Gene Mutation Database (HGMD): PNPLA3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PNPLA3
    DNA2.0 Custom Variant and Variant Library Synthesis for PNPLA3

    (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: 609567    OMIM disorders: --

    UniProtKB/Swiss-Prot: PLPL3_HUMAN, Q9NST1
  • Non-alcoholic fatty liver disease 1 (NAFLD1) [MIM:613282]: A condition characterized by accumulation of
    triglycerides in the liver. It is associated with adverse metabolic consequences, including insulin resistance
    and dyslipidemia. In a subset of individuals, hepatic steatosis promotes an inflammatory response in the liver,
    referred to as steatohepatitis, which can progress to cirrhosis and liver cancer. NAFLD is the most common form
    of liver disease in Western countries. Note=Disease susceptibility is associated with variations affecting the
    gene represented in this entry

  • 4 diseases for PNPLA3:    
    About MalaCards
    pnpla3-related susceptibility to nonalchoholic fatty liver disease    fatty liver disease    liver disease    obesity

    2 diseases from the University of Copenhagen DISEASES database for PNPLA3:
    Fatty liver disease     Liver disease

    Find genes that share disorders with PNPLA3           About GenesLikeMe

    4 Novoseek inferred disease relationships for PNPLA3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    insulin sensitivity 42.1 6 19390624 (2), 17088412 (2), 16505250 (1), 16914601 (1)
    obesity 38.3 13 18728122 (3), 19390624 (3), 16505250 (2), 19596471 (2) (see all 6)
    tumors 3.25 2 17100551 (1), 15949695 (1)
    necrosis 0 2 17100551 (1), 15949695 (1)

    Genetic Association Database (GAD): PNPLA3
    Human Genome Epidemiology (HuGE) Navigator: PNPLA3 (37 documents)

    Export disorders for PNPLA3 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 PNPLA3 gene, integrated from 10 sources (see all 161):
    (articles sorted by number of sources associating them with PNPLA3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A common variant in PNPLA3, which encodes adiponutrin, is associated with liver fat content in humans. (PubMed id 19224197)1, 2, 4, 9 Kotronen A.... Yki-Jarvinen H. (Diabetologia 2009)
    2. Polymorphisms in the adiponutrin gene are associated with increased insulin secretion and obesity. (PubMed id 18728122)1, 2, 4, 9 Johansson L.E....Ridderstraale M. (Eur. J. Endocrinol. 2008)
    3. A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity. (PubMed id 19738004)1, 2, 4, 9 Sookoian S.... Pirola C.J. (J. Lipid Res. 2009)
    4. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. (PubMed id 18820647)1, 2, 4 Romeo S.... Hobbs H.H. (Nat. Genet. 2008)
    5. Genetic evidence for a role of adiponutrin in the metabolism of apolipoprotein B-containing lipoproteins. (PubMed id 19729411)1, 4, 9 Kollerits B....Kronenberg F. (Hum. Mol. Genet. 2009)
    6. Variation in the adiponutrin gene influences its expression and associates with obesity. (PubMed id 16505250)1, 4, 9 Johansson L.E....RidderstrAYle M. (Diabetes 2006)
    7. Genetic variance in the adiponutrin gene family and childhood obesity. (PubMed id 19390624)1, 4, 9 Johansson L.E....RidderstrAYle M. (PLoS ONE 2009)
    8. A single nucleotide polymorphism (SNP) rs2072907 in the adiponutrin gene (ADPN) was not associated with obesity and type 2 diabetes in Chinese population. (PubMed id 19596471)1, 4, 9 Liang H....Weng J. (Diabetes Res. Clin. Pract. 2009)
    9. Adiponutrin: A new gene regulated by energy balance in human adipose tissue. (PubMed id 15181042)1, 2, 9 Liu Y.-M.... Clement K. (J. Clin. Endocrinol. Metab. 2004)
    10. Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities. (PubMed id 15364929)1, 2, 9 Jenkins C.M.... Gross R.W. (J. Biol. Chem. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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      Query String
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    OMIM
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 80339 HGNC: 18590 AceView: ADPN Ensembl:ENSG00000100344 euGenes: HUgn80339
    ECgene: PNPLA3 Kegg: 80339 H-InvDB: PNPLA3

    (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 PNPLA3 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 PNPLA3 gene:
    Search GeneIP for patents involving PNPLA3

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



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