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] See more...

Aliases for PNPLA3 Gene

Aliases for PNPLA3 Gene

  • Patatin Like Phospholipase Domain Containing 3 2 3 5
  • Adiponutrin 2 2 3 4
  • Patatin-Like Phospholipase Domain-Containing Protein 3 3 4
  • 1-Acylglycerol-3-Phosphate O-Acyltransferase PNPLA3 3 4
  • Calcium-Independent Phospholipase A2-Epsilon 3 4
  • Lysophosphatidic Acid Acyltransferase 3 4
  • Acylglycerol Transacylase 3 4
  • IPLA2-Epsilon 3 4
  • IPLA2epsilon 2 3
  • EC 3.1.1.3 4 50
  • C22orf20 3 4
  • ADPN 3 4
  • Patatin-Like Phospholipase Domain Containing 3 2
  • Chromosome 22 Open Reading Frame 20 2
  • Acylglycerol O-Acyltransferase 3
  • IPLA(2)Epsilon 3
  • EC 2.7.7.56 50
  • EC 2.3.1.51 4
  • DJ796I17.1 2
  • EC 4.2.3.4 50
  • FLJ22012 2
  • PNPLA3 5

External Ids for PNPLA3 Gene

Previous HGNC Symbols for PNPLA3 Gene

  • C22orf20
  • ADPN

Previous GeneCards Identifiers for PNPLA3 Gene

  • GC22P042651
  • GC22P044319
  • GC22P027273

Summaries for PNPLA3 Gene

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 Fatty Liver Disease and Liver Disease. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include phospholipase A2 activity and mono-olein transacylation activity. An important paralog of this gene is PNPLA2.

UniProtKB/Swiss-Prot Summary for PNPLA3 Gene

  • Specifically catalyzes coenzyme A (CoA)-dependent acylation of 1-acyl-sn-glycerol 3-phosphate (2-lysophosphatidic acid/LPA) to generate phosphatidic acid (PA), an important metabolic intermediate and precursor for both triglycerides and glycerophospholipids. Does not esterify other lysophospholipids. Acyl donors are long chain (at least C16) fatty acyl-CoAs: arachidonoyl-CoA, linoleoyl-CoA, oleoyl-CoA and at a lesser extent palmitoyl-CoA (PubMed:22560221). Additionally possesses low triacylglycerol lipase and CoA-independent acylglycerol transacylase activities and thus may play a role in acyl-chain remodeling of triglycerides (PubMed:15364929, PubMed:20034933, PubMed:22560221). Has hydrolytic activity against glycerolipids triacylglycerol, diacylglycerol and monoacylglycerol, with a strong preference for oleic acid as the acyl moiety (PubMed:21878620).

Gene Wiki entry for PNPLA3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PNPLA3 Gene

Genomics for PNPLA3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PNPLA3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J043922 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 255.9 +1.1 1108 4.4 MYC IKZF1 ZNF600 CEBPA NFIC POLR2A ZIC2 ZBTB10 YY1 MXD4 PNPLA3 lnc-PNPLA5-6 HSALNG0135816 SAMM50
GH22J043901 Enhancer 0.7 Ensembl ENCODE 36.9 -21.2 -21226 2.1 JUND NFIC ZNF384 BHLHE40 KLF1 EP300 FOS ZNF121 piR-57098-016 PNPLA3 SULT4A1 EFCAB6 SHISAL1 piR-32214-456 PNPLA5 lnc-PNPLA5-6
GH22J043867 Enhancer 1 Ensembl ENCODE 10.9 -55.1 -55145 1.8 MXD4 REST KLF11 DEK SIN3A KMT2B THAP11 MAFF SMAD4 SAP130 EFCAB6 PNPLA5 PNPLA3 RPL35AP36 SAMM50 SHISAL1 SULT4A1 HSALNG0135810
GH22J043897 Enhancer 0.7 Ensembl ENCODE 12.3 -25.8 -25800 1.2 JUND ZNF398 EGR2 FOS EP300 ZFHX2 CEBPB CBFA2T3 EFCAB6 PNPLA3 SULT4A1 MPPED1 piR-32214-456 PNPLA5 piR-57098-016 lnc-PNPLA5-6
GH22J043852 Enhancer 0.6 Ensembl 10.8 -70.9 -70891 0.6 ZNF148 NONO ZNF521 TARDBP ZNF571 ZNF311 ZNF112 MNT PRDM2 ZFHX2 ENSG00000261251 EFCAB6 PNPLA3 RPL35AP36 SAMM50 SULT4A1 RF00017-3491 LOC105373057
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PNPLA3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PNPLA3

Top Transcription factor binding sites by QIAGEN in the PNPLA3 gene promoter:
  • HOXA5
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • PPAR-gamma1
  • PPAR-gamma2
  • Spz1

Genomic Locations for PNPLA3 Gene

Latest Assembly
chr22:43,923,792-43,964,488
(GRCh38/hg38)
Size:
40,697 bases
Orientation:
Plus strand

Previous Assembly
chr22:44,319,685-44,343,462
(GRCh37/hg19 by Entrez Gene)
Size:
23,778 bases
Orientation:
Plus strand

chr22:44,319,619-44,360,368
(GRCh37/hg19 by Ensembl)
Size:
40,750 bases
Orientation:
Plus strand

Genomic View for PNPLA3 Gene

Genes around PNPLA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNPLA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNPLA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNPLA3 Gene

Proteins for PNPLA3 Gene

  • Protein details for PNPLA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NST1-PLPL3_HUMAN
    Recommended name:
    1-acylglycerol-3-phosphate O-acyltransferase PNPLA3
    Protein Accession:
    Q9NST1
    Secondary Accessions:
    • B0QYI0
    • B2RCL3
    • B3KW00
    • Q6P1A1
    • Q96CB4

    Protein attributes for PNPLA3 Gene

    Size:
    481 amino acids
    Molecular mass:
    52865 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PNPLA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PNPLA3 Gene

Selected DME Specific Peptides for PNPLA3 Gene

Q9NST1:
  • LDTLSPR
  • TITVSPF
  • DLKVLGE

Post-translational modifications for PNPLA3 Gene

  • Glycosylation at Asn89 and Asn280
  • Modification sites at PhosphoSitePlus

Other Protein References for PNPLA3 Gene

Domains & Families for PNPLA3 Gene

Gene Families for PNPLA3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PNPLA3 Gene

Suggested Antigen Peptide Sequences for PNPLA3 Gene

GenScript: Design optimal peptide antigens:
  • Calcium-independent phospholipase A2-epsilon (PLPL3_HUMAN)
genes like me logo Genes that share domains with PNPLA3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PNPLA3 Gene

Function for PNPLA3 Gene

Molecular function for PNPLA3 Gene

UniProtKB/Swiss-Prot Function:
Specifically catalyzes coenzyme A (CoA)-dependent acylation of 1-acyl-sn-glycerol 3-phosphate (2-lysophosphatidic acid/LPA) to generate phosphatidic acid (PA), an important metabolic intermediate and precursor for both triglycerides and glycerophospholipids. Does not esterify other lysophospholipids. Acyl donors are long chain (at least C16) fatty acyl-CoAs: arachidonoyl-CoA, linoleoyl-CoA, oleoyl-CoA and at a lesser extent palmitoyl-CoA (PubMed:22560221). Additionally possesses low triacylglycerol lipase and CoA-independent acylglycerol transacylase activities and thus may play a role in acyl-chain remodeling of triglycerides (PubMed:15364929, PubMed:20034933, PubMed:22560221). Has hydrolytic activity against glycerolipids triacylglycerol, diacylglycerol and monoacylglycerol, with a strong preference for oleic acid as the acyl moiety (PubMed:21878620).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1-acyl-sn-glycero-3-phosphate + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:19709, ChEBI:CHEBI:57287, ChEBI:CHEBI:57970, ChEBI:CHEBI:58342, ChEBI:CHEBI:58608; EC=2.3.1.51; Evidence={ECO:0000269|PubMed:21878620, ECO:0000269|PubMed:22560221};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+); Xref=Rhea:RHEA:12044, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17855, ChEBI:CHEBI:18035, ChEBI:CHEBI:28868; EC=3.1.1.3; Evidence={ECO:0000269|PubMed:15364929, ECO:0000269|PubMed:20034933, ECO:0000269|PubMed:21878620, ECO:0000269|PubMed:22560221};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,3-diacylglycerol + a 1-acylglycerol = a triacylglycerol + glycerol; Xref=Rhea:RHEA:44440, ChEBI:CHEBI:17754, ChEBI:CHEBI:17855, ChEBI:CHEBI:35759, ChEBI:CHEBI:47777; Evidence={ECO:0000269|PubMed:15364929};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacylglycerol + a 1-acylglycerol = a triacylglycerol + glycerol; Xref=Rhea:RHEA:44436, ChEBI:CHEBI:17754, ChEBI:CHEBI:17855, ChEBI:CHEBI:35759, ChEBI:CHEBI:49172; Evidence={ECO:0000269|PubMed:15364929};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 a 1-acylglycerol = a 1,2-diacylglycerol + glycerol; Xref=Rhea:RHEA:44432, ChEBI:CHEBI:17754, ChEBI:CHEBI:35759, ChEBI:CHEBI:49172; Evidence={ECO:0000269|PubMed:15364929};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoyl-CoA + 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate = 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37131, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:74544, ChEBI:CHEBI:74546; Evidence={ECO:0000269|PubMed:22560221};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + hexadecanoyl-CoA = 1-(9Z)-octadecenoyl-2-hexadecanoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37143, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:74544, ChEBI:CHEBI:74551; Evidence={ECO:0000269|PubMed:22560221};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z,12Z)-octadecadienoyl-CoA + 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate = 1-(9Z)-octadecenoyl-2-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37159, ChEBI:CHEBI:57287, ChEBI:CHEBI:57383, ChEBI:CHEBI:74544, ChEBI:CHEBI:74563; Evidence={ECO:0000269|PubMed:22560221};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate = 1-(9Z)-octadecenoyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37443, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:74544, ChEBI:CHEBI:74928; Evidence={ECO:0000269|PubMed:22560221};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 1-(9Z-octadecenoyl)-glycerol = 1,2-di-(9Z-octadecenoyl)-glycerol + glycerol; Xref=Rhea:RHEA:38323, ChEBI:CHEBI:17754, ChEBI:CHEBI:52323, ChEBI:CHEBI:75342; Evidence={ECO:0000269|PubMed:15364929};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-di-(9Z-octadecenoyl)-glycerol + 1-(9Z-octadecenoyl)-glycerol = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + glycerol; Xref=Rhea:RHEA:38327, ChEBI:CHEBI:17754, ChEBI:CHEBI:52323, ChEBI:CHEBI:53753, ChEBI:CHEBI:75342; Evidence={ECO:0000269|PubMed:15364929};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,3-di-(9Z-octadecenoyl)-glycerol + 1-(9Z-octadecenoyl)-glycerol = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + glycerol; Xref=Rhea:RHEA:38331, ChEBI:CHEBI:17754, ChEBI:CHEBI:53753, ChEBI:CHEBI:75342, ChEBI:CHEBI:75735; Evidence={ECO:0000269|PubMed:15364929};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2,3-tri-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + 1,3-di-(9Z-octadecenoyl)-glycerol + H(+); Xref=Rhea:RHEA:38387, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:53753, ChEBI:CHEBI:75735; Evidence={ECO:0000269|PubMed:21878620};.
UniProtKB/Swiss-Prot Induction:
By changes in energy balance: down-regulated following very low-calorie diet, whereas refeeding elevates the mRNA level.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=32.2 uM for triacylglycerol {ECO:0000269|PubMed:21878620}; KM=29.1 uM for diacylglycerol {ECO:0000269|PubMed:21878620}; KM=32.9 uM for monoacylglycerol {ECO:0000269|PubMed:21878620}; KM=6.2 uM for oleoyl-CoA {ECO:0000269|PubMed:21878620}; Vmax=10.5 nmol/min/mg enzyme toward triacylglycerol {ECO:0000269|PubMed:21878620}; Vmax=21.8 nmol/min/mg enzyme toward diacylglycerol {ECO:0000269|PubMed:21878620}; Vmax=27.4 nmol/min/mg enzyme toward monoacylglycerol {ECO:0000269|PubMed:21878620}; Vmax=2.8 nmol/min/mg enzyme toward oleoyl-CoA {ECO:0000269|PubMed:21878620};

Enzyme Numbers (IUBMB) for PNPLA3 Gene

Phenotypes From GWAS Catalog for PNPLA3 Gene

Gene Ontology (GO) - Molecular Function for PNPLA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity IDA 22560221
GO:0004623 phospholipase A2 activity IDA 15364929
GO:0004806 triglyceride lipase activity IBA,IDA 15364929
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with PNPLA3: view
genes like me logo Genes that share phenotypes with PNPLA3: view

Animal Models for PNPLA3 Gene

MGI Knock Outs for PNPLA3:

Animal Models for research

  • Taconic Biosciences Mouse Models for PNPLA3

miRNA for PNPLA3 Gene

miRTarBase miRNAs that target PNPLA3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNPLA3

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PNPLA3 Gene

Localization for PNPLA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNPLA3 Gene

Membrane. Single-pass type II membrane protein. Lipid droplet.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PNPLA3 gene
Compartment Confidence
extracellular 3
mitochondrion 3
nucleus 3
cytosol 3
plasma membrane 2
peroxisome 2
endoplasmic reticulum 2
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PNPLA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005811 lipid droplet IBA,IDA 20034933
GO:0016020 membrane IDA,ISS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PNPLA3: view

Pathways & Interactions for PNPLA3 Gene

genes like me logo Genes that share pathways with PNPLA3: view

Pathways by source for PNPLA3 Gene

UniProtKB/Swiss-Prot Q9NST1-PLPL3_HUMAN

  • Pathway: Phospholipid metabolism.
  • Pathway: Glycerolipid metabolism.

Gene Ontology (GO) - Biological Process for PNPLA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001676 long-chain fatty acid metabolic process IDA 22560221
GO:0006629 lipid metabolic process IEA --
GO:0006650 glycerophospholipid metabolic process IDA 22560221
GO:0006654 phosphatidic acid biosynthetic process IDA 22560221
GO:0008654 phospholipid biosynthetic process IEA --
genes like me logo Genes that share ontologies with PNPLA3: view

No data available for SIGNOR curated interactions for PNPLA3 Gene

Drugs & Compounds for PNPLA3 Gene

(24) Drugs for PNPLA3 Gene - From: PharmGKB, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3864
Daunorubicin Approved Pharma DNA topoisomerase II inhibitor 399
Ethanol Approved Pharma 3544
Prednisolone Approved, Vet_approved Pharma 1686
Vincristine Approved, Investigational Pharma Microtubule disrupter,antitumor agent 1112

(20) Additional Compounds for PNPLA3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachic acid
  • Arachidinic acid
  • Arachinsaeure
  • C20:0
  • CH3-[CH2]18-COOH
506-30-9
DG(16:0/24:0/0:0)
  • 1-Palmitoyl-2-lignoceroyl-sn-glycerol
  • DAG(16:0/24:0)
  • DAG(40:0)
  • DG(16:0/24:0)
  • DG(40:0)
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (11Z)-icos-11-enoic acid
  • Diacylglycerol(15:0/0:0/20:1)
  • DAG(35:1)
  • Diacylglycerol(35:1)
  • DG(15:0/0:0/20:1W9)
Diglycerides Group B
  • Diglyceride
  • DG(32:4)
  • DG(14:1/18:3)
  • DAG(14:1/18:3)
  • Diacylglycerol(32:4)
257891-89-7
Diglycerides Group C
  • (2S)-1-Hydroxy-3-(palmitoyloxy)propan-2-yl (5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate
  • 1,2-DG 16:0/20:4(omega-6)
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z)-icosatetraenoyl-sn-glycerol
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol
  • DAG(16:0/20:4)
91125-76-7, 29541-66-0, 51621-26-2
genes like me logo Genes that share compounds with PNPLA3: view

Transcripts for PNPLA3 Gene

mRNA/cDNA for PNPLA3 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNPLA3

Alternative Splicing Database (ASD) splice patterns (SP) for PNPLA3 Gene

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

Relevant External Links for PNPLA3 Gene

GeneLoc Exon Structure for
PNPLA3

Expression for PNPLA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PNPLA3 Gene

mRNA differential expression in normal tissues according to GTEx for PNPLA3 Gene

This gene is overexpressed in Liver (x23.4) and Skin - Sun Exposed (Lower leg) (x4.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PNPLA3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PNPLA3

SOURCE GeneReport for Unigene cluster for PNPLA3 Gene:

Hs.654800

Evidence on tissue expression from TISSUES for PNPLA3 Gene

  • Skin(4.4)
  • Nervous system(4.3)
  • Liver(3.5)
  • Blood(2.4)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with PNPLA3: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PNPLA3 Gene

Orthologs for PNPLA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PNPLA3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PNPLA3 29 30
  • 98.75 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PNPLA3 29 30
  • 76.31 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC786474 29
  • 75.98 (n)
-- 30
  • 62 (a)
OneToMany
-- 30
  • 58 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Pnpla3 29 16 30
  • 74.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pnpla3 29
  • 72.76 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia PNPLA3 30
  • 55 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PNPLA3 30
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 43 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 40 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii pnpla3 30
  • 38 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta dob 30
  • 27 (a)
ManyToMany
bmm 30
  • 25 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea C05D11.7 30
  • 20 (a)
OneToMany
Species where no ortholog for PNPLA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for PNPLA3 Gene

ENSEMBL:
Gene Tree for PNPLA3 (if available)
TreeFam:
Gene Tree for PNPLA3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PNPLA3: view image
Alliance of Genome Resources:
Additional Orthologs for PNPLA3

Paralogs for PNPLA3 Gene

Paralogs for PNPLA3 Gene

(5) SIMAP similar genes for PNPLA3 Gene using alignment to 4 proteins:

  • PLPL3_HUMAN
  • F8W8E5_HUMAN
  • U3N4F2_HUMAN
  • U3N901_HUMAN
genes like me logo Genes that share paralogs with PNPLA3: view

Variants for PNPLA3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PNPLA3 Gene

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.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PNPLA3 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
899623 Uncertain Significance: Fatty liver disease, nonalcoholic 1 43,928,887(+) G/A
NM_025225.3(PNPLA3):c.484G>A (p.Val162Met)
MISSENSE
899624 Uncertain Significance: Fatty liver disease, nonalcoholic 1 43,932,885(+) T/C
NM_025225.3(PNPLA3):c.494T>C (p.Val165Ala)
MISSENSE
899625 Uncertain Significance: Fatty liver disease, nonalcoholic 1 43,932,948(+) C/A
NM_025225.3(PNPLA3):c.557C>A (p.Pro186His)
MISSENSE
899626 Uncertain Significance: Fatty liver disease, nonalcoholic 1 43,932,990(+) C/T
NM_025225.3(PNPLA3):c.599C>T (p.Thr200Met)
MISSENSE
899627 Uncertain Significance: Fatty liver disease, nonalcoholic 1 43,933,008(+) A/C
NM_025225.3(PNPLA3):c.617A>C (p.Asp206Ala)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PNPLA3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PNPLA3 Gene

Variant ID Type Subtype PubMed ID
esv3305617 CNV mobile element insertion 20981092
esv3310025 CNV mobile element insertion 20981092
nsv1055831 CNV gain 25217958
nsv1056412 CNV gain 25217958
nsv1139069 CNV deletion 24896259
nsv513592 CNV insertion 21212237
nsv528458 CNV gain 19592680
nsv829265 CNV loss 20364138
nsv834218 CNV loss 17160897
nsv834219 CNV gain 17160897

Variation tolerance for PNPLA3 Gene

Residual Variation Intolerance Score: 89.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.69; 89.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PNPLA3 Gene

Human Gene Mutation Database (HGMD)
PNPLA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PNPLA3
Leiden Open Variation Database (LOVD)
PNPLA3

SNP Genotyping and Copy Number Assays for research

Disorders for PNPLA3 Gene

MalaCards: The human disease database

(20) MalaCards diseases for PNPLA3 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
fatty liver disease
  • alcoholic fatty liver
liver disease
  • disorder of liver
non-alcoholic fatty liver disease
  • nafld
non-alcoholic steatohepatitis
  • nash
fatty liver disease, nonalcoholic 1
  • fatty liver disease, nonalcoholic, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PLPL3_HUMAN
  • 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. {ECO:0000269 PubMed:18820647, ECO:0000269 PubMed:19224197, ECO:0000269 PubMed:19738004, ECO:0000269 PubMed:27288299}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Additional Disease Information for PNPLA3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PNPLA3: view

No data available for Genatlas for PNPLA3 Gene

Publications for PNPLA3 Gene

  1. A common variant in PNPLA3, which encodes adiponutrin, is associated with liver fat content in humans. (PMID: 19224197) Kotronen A … Yki-Järvinen H (Diabetologia 2009) 3 4 22 40
  2. A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity. (PMID: 19738004) Sookoian S … Pirola CJ (Journal of lipid research 2009) 3 4 22 40
  3. Polymorphisms in the adiponutrin gene are associated with increased insulin secretion and obesity. (PMID: 18728122) Johansson LE … Ridderstråle M (European journal of endocrinology 2008) 3 4 22 40
  4. A common variant in the adiponutrin gene influences liver enzyme values. (PMID: 19542081) Kollerits B … Kronenberg F (Journal of medical genetics 2010) 3 22 40
  5. Genetic variance in the adiponutrin gene family and childhood obesity. (PMID: 19390624) Johansson LE … Ridderstråle M (PloS one 2009) 3 22 40

Products for PNPLA3 Gene

Sources for PNPLA3 Gene