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

PNPLA3 Gene

protein-coding   GIFtS: 57
GCID: GC22P044319

patatin-like phospholipase domain containing 3

(Previous names: chromosome 22 open reading frame 20, adiponutrin )
(Previous symbols: C22orf20, ADPN)
 Explore 19 diseases affiliated with
PNPLA3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PNPLA3    

Aliases
for PNPLA3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Patatin-Like Phospholipase Domain Containing 31 2     FLJ220121
ADPN1 2 3 5     Chromosome 22 Open Reading Frame 201
C22orf201 2 3     DJ796I17.11
Adiponutrin3     IPLA(2)Epsilon1
IPLA2epsilon1     Patatin-Like Phospholipase Domain-Containing Protein 32
Acylglycerol O-Acyltransferase2 3     Adiponutrin3
Calcium-Independent Phospholipase A2-Epsilon2 3     EC 2.3.1.-3
IPLA2-Epsilon1     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


Summaries
for PNPLA3 gene

(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 PNPLA3:
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)

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

Gene Wiki entry for PNPLA3


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences 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 plasmid: PNPLA3 promoter sequence
   Search SABiosciences Chromatin IP Primers for PNPLA3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for PNPLA3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PLPL3_HUMAN, Q9NST1 (See protein sequence)
Recommended Name: Patatin-like phospholipase domain-containing protein 3  
Size: 481 amino acids; 52865 Da
Subcellular location: Membrane; Single-pass type II membrane protein
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NST1

    • 3 DME Specific Peptides for PNPLA3 (Q9NST1)
     TITVSPF  DLKVLGE  LDTLSPR 

    PNPLA3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_079501.2  
    ENSEMBL proteins: 
     ENSP00000216180   ENSP00000384668   ENSP00000397987  
    Reactome Protein details: Q9NST1
    Human Recombinant Protein Products: 
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    Uscn Proteins for PNPLA3

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    PNPLA3 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for PNPLA3

    Protein Domains /
    Families
    for PNPLA3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PNPLA3 for domains           About GeneDecksing

    2 InterPro domains/families:
     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


    Function
    for PNPLA3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PNPLA3
    1 QIAGEN miScript miRNA Assays for microRNA that regulate PNPLA3:
    hsa-miR-421
    SwitchGear 3'UTR luciferase reporter plasmid: PNPLA3 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004623phospholipase A2 activity IDA15364929
    GO:0004806triglyceride lipase activity IDA15364929
    GO:0050253retinyl-palmitate esterase activity IEA--
    GO:0051264mono-olein transacylation activity IDA15364929
    GO:0051265diolein transacylation activity IDA15364929


    PNPLA3 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Pnpla3tm1Eek for PNPLA3
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Pnpla3):
     homeostasis/metabolism 

    PNPLA3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PNPLA3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    2Glycerophospholipid biosynthesis
    		Glycerophospholipid biosynthesis1.00
    		Phospholipid metabolism0.64
    3Acyl chain remodeling of DAG and TAG
    		Acyl chain remodeling of DAG and TAG1.00
    4Adipogenesis
    		Adipogenesis1.00
    5Glycerolipid metabolism
    		Glycerolipid metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for PNPLA3 
        Adipogenesis
    Eicosanoid Synthesis

    5        Reactome Pathways for PNPLA3
        Glycerophospholipid biosynthesis
    Metabolism
    Phospholipid metabolism
    Acyl chain remodeling of DAG and TAG
    Metabolism of lipids and lipoproteins


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

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


    PNPLA3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PNPLA3

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

    5/35 Interacting proteins for PNPLA3 (ENSP000002161804) via UniProtKB, MINT, STRING, and/or I2D (see all 35)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CELENSP000003611514STRING: ENSP00000361151
    DGAT1ENSP000003322584STRING: ENSP00000332258
    DGAT2ENSP000002280274STRING: ENSP00000228027
    LIPCENSP000002990224STRING: ENSP00000299022
    LPLENSP000003097574STRING: ENSP00000309757
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0008152metabolic process ----
    GO:0019432triglyceride biosynthetic process IDA15364929
    GO:0019433triglyceride catabolic process IEA--
    GO:0036155acylglycerol acyl-chain remodeling TAS--


    PNPLA3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PNPLA3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PNPLA3 for compounds           About GeneDecksing

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

    Browse Tocris compounds for PNPLA3

    10/1142 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 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)

    Search CenterWatch for drugs/clinical trials and news about PNPLA3 / PLPL3 

    Transcripts
    for PNPLA3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    hsa-miR-421
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    Inhib. RNA
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    Clone
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    Additional cDNA 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 

    24/57 AceView cDNA sequences (see all 57):

    CD673551 CD673552 AL138578 CR623185 BG315192 BQ637622 BU145607 NM_025225 
    BG315476 BC065195 AK025665 AW300718 BX353229 CR456476 BM719391 AW516390 
    BG766732 BM042390 BU185946 T07016 BQ677855 AI262313 BX391133 BC014449 

    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

    Expression
    for PNPLA3 gene

    (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

    PNPLA3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PNPLA3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See PNPLA3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PNPLA3

    SOURCE GeneReport for Unigene cluster: Hs.654800
        SABiosciences Expression via Pathway-Focused PCR Arrays including PNPLA3: 
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              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for PNPLA3 gene

    (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 eukaryotes.

    Orthologs for PNPLA3 gene from 7/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves B3TZB5_CHICK6
    		 Uncharacterized protein
    		 38(a)
    		 1 → many
    		 1(71256655-71269051)
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 52(a)
    		 1 → many
    		 5(85890356-85917034)
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc:921956
    		 zgc:92195
    		 39(a)
    		 1 → many
    		 Zv9_scaffold3512(30685-45752)
    fruit fly
    (Drosophila melanogaster)    		 Insecta dob6
    bmm6
    		 brummer
    		 25(a)
    24(a)
    		 many ↔ many
    many ↔ many
    		 X(14961036-14963124)
    3L(14769596-14779512)
    worm
    (Caenorhabditis elegans)    		 Secernentea C05D11.76
    		 Uncharacterized protein C05D11.7
    		 16(a)
    		 1 → many
    		 III(6415719-6421659)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G332706
    		 patatin-like phospholipase domain-containing prote...
    		 19(a)
    		 1 → many
    		 1(12068063-12070374)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 phospholipase, patatin family, putative, expressed...
    		 19(a)
    		 1 → many
    		 11(19678513-19681858)


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

    Paralogs
    for PNPLA3 gene

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

    PNPLA3 for paralogs           About GeneDecksing



    Genomic Variants
    for PNPLA3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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: PLPL3_HUMAN, Q9NST1
    Polymorphism: 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


    10/576 NCBI SNPs in PNPLA3 are shown (see all 576)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs749226341,2
    		--44317699(+) CAGTTA/GGGGCA 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs60064591,2
    		--44317710(+) GGACTC/GTAGGT 1 -- us2k10--------
    rs738884901,2
    		C,--44317751(+) AGGAAT/CAGATG 1 -- us2k13Minor allele frequency- C:0.22WA CSA 122
    rs1506430851,2
    		--44318187(+) AGAAGC/GGGGAG 1 -- us2k10--------
    rs96260551,2
    		C,F,A,H,--44318244(+) AGGGTC/TCTCCA 1 -- us2k112Minor allele frequency- T:0.04EA NS NA WA 1468
    rs119138681,2
    		C,A,H,--44318282(+) TTGGCT/CCCATG 1 -- us2k13Minor allele frequency- C:0.08WA CSA 121
    rs1397289891,2
    		--44318288(+) CCATGC/TACTGC 1 -- us2k10--------
    rs1497251691,2
    		--44318388(+) TGTGTC/TCCCAC 1 -- us2k10--------
    rs119133361,2
    		C,F,H,--44318463(+) aggtgA/Ttttga 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1836769921,2
    		--44318482(+) TGGCAA/CCCTTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PNPLA3 (44319619 - 44360368 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PNPLA3: --
    Human Gene Mutation Database (HGMD): PNPLA3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PNPLA3
    DNA2.0 Custom Variant and Variant Library Synthesis for PNPLA3

    Disorders / Diseases
    for PNPLA3 gene

    (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.)
    About This Section
    PNPLA3 for disorders           About GeneDecksing

    OMIM gene information: 609567    OMIM disorders: --

    UniProtKB/Swiss-Prot: PLPL3_HUMAN, Q9NST1
  • Genetic variations in PNPLA3 are a cause of susceptibility to non-alcoholic fatty liver disease type 1
    • (NAFLD1) [MIM:613282]. A condition characterized by an accumulation of excess triglyceride in the liver, a condition
    known as hepatic steatosis (or fatty liver), which 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

    19 diseases for PNPLA3:    About MalaCards
    type 2 diabetes mellitus    fatty liver disease    diabetes mellitus    morbid obesity
    insulin resistance    liver disease    hepatitis c    obesity
    liver cancer    hepatocellular carcinoma    atherosclerosis    hepatitis
    fibrosis    cholesterol    carcinoma    pancreatitis
    malaria    alcoholism    liver fibrosis

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

    4 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: PNPLA3 (37 documents)

    Export disorders for PNPLA3 gene to outside databases

    Publications
    for PNPLA3 gene

    (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 PNPLA3 gene, integrated from 9 sources (see all 133):
    (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, 9 Kotronen A.... Yki-Jarvinen H. (2009)
    2. Polymorphisms in the adiponutrin gene are associated with increased insulin secretion and obesity. (PubMed id 18728122)1, 2, 9 Johansson L.E....Ridderstrale M. (2008)
    3. Adiponutrin: A new gene regulated by energy balance in human adipose tissue. (PubMed id 15181042)1, 2, 9 Liu Y.-M.... Clement K. (2004)
    4. 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. (2004)
    5. A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity. (PubMed id 19738004)1, 2, 9 Sookoian S....Pirola C.J. (2009)
    6. A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis. (PubMed id 20034933)1, 2 He S.... Hobbs H.H. (2010)
    7. 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)
    8. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. (PubMed id 18820647)1, 2 Romeo S....Hobbs H.H. (2008)
    9. Characterization of the human patatin-like phospholipase family. (PubMed id 16799181)1, 3 Wilson P.A.... Crowther D.J. (2006)
    10. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)

    External Searches for PNPLA3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing PNPLA3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80339 HGNC: 18590 AceView: ADPN Ensembl:ENSG00000100344 euGenes: HUgn80339
    ECgene: PNPLA3 Kegg: 80339 H-InvDB: PNPLA3

    Other Databases showing PNPLA3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PNPLA3 gene

    (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 PNPLA3 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for PNPLA3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PNPLA3 gene:
    Search GeneIP for patents involving PNPLA3

    GeneCards and IP:
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