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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] See more...
Aliases for PNPLA2 Gene
Aliases for PNPLA2 Gene
- Patatin Like Phospholipase Domain Containing 2 2 3 5
- Desnutrin 2 3 4
- ATGL 2 3 4
- Patatin-Like Phospholipase Domain-Containing Protein 2 3 4
- Calcium-Independent Phospholipase A2 3 4
- Pigment Epithelium-Derived Factor 3 4
- Adipose Triglyceride Lipase 3 4
- IPLA2-Zeta 3 4
- EC 3.1.1.3 4 51
- IPLA2zeta 2 3
- FP17548 2 3
External Ids for PNPLA2 Gene
- HGNC: 30802
- Entrez Gene: 57104
- Ensembl: ENSG00000177666
- OMIM: 609059
- UniProtKB: Q96AD5
Previous GeneCards Identifiers for PNPLA2 Gene
- GC11P000808
- GC11P000634
- GC11P000819
- GC11P000821
- GC11P000855
- GC11P000862
- GC11P000869
- GC11P000884
- GC11P000823
- GC11P000838
- GC11P000847
Summaries 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 Neutral Lipid Storage Disease With Myopathy and Triglyceride Deposit Cardiomyovasculopathy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Glycerolipid metabolism. Gene Ontology (GO) annotations related to this gene include triglyceride lipase activity. An important paralog of this gene is PNPLA3.
UniProtKB/Swiss-Prot Summary for PNPLA2 Gene
-
Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets (PubMed:15550674, PubMed:15364929, PubMed:16150821). Exhibits a strong preference for the hydrolysis of long-chain fatty acid esters at the sn-2 position of the glycerol backbone (By similarity). Also has acylglycerol transacylase activity. Acts coordinately with LIPE/HLS and DGAT2 within the lipolytic cascade (By similarity). Transfers fatty acid from triglyceride to retinol, hydrolyzes retinylesters, and generates 1,3-diacylglycerol from triglycerides (PubMed:17603008). Regulates adiposome size and may be involved in the degradation of adiposomes (PubMed:16239926). 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 (By similarity).
Additional gene information for PNPLA2 Gene
- HGNC(30802)
- Entrez Gene(57104)
- Ensembl(ENSG00000177666)
- OMIM(609059)
- UniProtKB(Q96AD5)
- Open Targets Platform(ENSG00000177666)
- Monarch Initiative
- Search for PNPLA2 at DataMed
- Search for PNPLA2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PNPLA2 Gene
Genomics for PNPLA2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PNPLA2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PNPLA2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PNPLA2
- Top Transcription factor binding sites by QIAGEN in the PNPLA2 gene promoter:
-
- AP-4
- MyoD
- p300
- p53
- Pax-5
- STAT1
- STAT1alpha
- STAT1beta
Genomic Locations for PNPLA2 Gene
Genomic Locations for PNPLA2 Gene
- chr11:818,890-825,573
- (GRCh38/hg38)
- Size:
- 6,684 bases
- Orientation:
- Plus strand
- chr11:818,901-825,573
- (GRCh37/hg19)
- Size:
- 6,673 bases
- Orientation:
- Plus strand
Genomic View for PNPLA2 Gene
Genes around PNPLA2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11p15.5 by HGNC
- 11p15.5 by Entrez Gene
- 11p15.5 by Ensembl
PNPLA2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PNPLA2 Gene
Proteins for PNPLA2 Gene
-
Protein details for PNPLA2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96AD5-PLPL2_HUMAN
- Recommended name:
- Patatin-like phospholipase domain-containing protein 2
- Protein Accession:
- Q96AD5
- O60643
- Q5EFF5
- Q6XYE5
- Q96ET6
- Q9NQ61
- Q9NQ62
Protein attributes for PNPLA2 Gene
- Size:
- 504 amino acids
- Molecular mass:
- 55316 Da
- Quaternary structure:
-
- Interacts with ABHD5; this association stimulates PNPLA2 triglyceride hydrolase activity (By similarity). Interacts with SERPINF1; interacts at one site of interaction (PubMed:17032652). Despite a colocalization in lipid droplets, it probably does not interact with PLIN (By similarity). Interacts with PLIN5; prevents interaction with ABHD5 (By similarity). Interacts with FAF2 (PubMed:23297223).
- SequenceCaution:
-
- Sequence=AAP34448.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAC01131.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAC01132.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression for PNPLA2 Gene
Selected DME Specific Peptides for PNPLA2 Gene
- Q96AD5:
-
- GVASCLREHAPFLVANATHIYGASAGALTATALVTG
- RAKRKLG
- TVSPFSGESDICP
- TITVSPF
- YCGLIPP
- RLNEALLEAC
Post-translational modifications for PNPLA2 Gene
- 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.
-
Glycosylation at Asn39
- NX_Q96AD5 (NX_Q96AD5-1)
-
Ubiquitination at Lys100, Lys435, and Lys224
- NX_Q96AD5 (NX_Q96AD5-1)
- Modification sites at PhosphoSitePlus
Other Protein References for PNPLA2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ PNPLA2 Antibody and Immunotag™ ATGL Antibody
-
Custom Antibody ServicesOriGene Antibodies for PNPLA2
- Novus Biologicals Antibodies for PNPLA2
-
Abcam antibodies for PNPLA2
- Invitrogen Antibodies for PNPLA2 (AFLGC-PNPLA2)
-
Boster Bio Antibodies for PNPLA2
-
Santa Cruz Biotechnology (SCBT) Antibodies for PNPLA2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for PNPLA2
- Origene Custom Protein Services for PNPLA2
- antibodies-online: Show 10 available PNPLA2 Proteins ranked by validation data
- Compare Top PNPLA2 Proteins
-
Quality Products:
-
Abcam proteins for PNPLA2
Assay Products
- RayBiotech Custom Human PEDF R/PNPLA2 ELISA
- Novus Biologicals ELISA Kits for PNPLA2
- antibodies-online: Show 7 available PNPLA2 Elisa Kits ranked by validation data
- Compare Top PNPLA2 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for PNPLA2
Domains & Families for PNPLA2 Gene
Gene Families for PNPLA2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for PNPLA2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for PNPLA2 Gene
- GenScript: Design optimal peptide antigens:
-
- Transport-secretion protein 2 (PLPL2_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PNPLA2 Gene
Function for PNPLA2 Gene
Molecular function for PNPLA2 Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets (PubMed:15550674, PubMed:15364929, PubMed:16150821). Exhibits a strong preference for the hydrolysis of long-chain fatty acid esters at the sn-2 position of the glycerol backbone (By similarity). Also has acylglycerol transacylase activity. Acts coordinately with LIPE/HLS and DGAT2 within the lipolytic cascade (By similarity). Transfers fatty acid from triglyceride to retinol, hydrolyzes retinylesters, and generates 1,3-diacylglycerol from triglycerides (PubMed:17603008). Regulates adiposome size and may be involved in the degradation of adiposomes (PubMed:16239926). 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 (By similarity).
- 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:15550674, ECO:0000269|PubMed:16150821};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2,3-tri-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + di-(9Z)-octadecenoylglycerol + H(+); Xref=Rhea:RHEA:38575, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:53753, ChEBI:CHEBI:75945; Evidence={ECO:0000269|PubMed:15550674};.
- 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-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=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=1,2,3-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:17603008};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(9Z)-octadecenoate + 1,2-di-(9Z-octadecenoyl)-glycerol + H(+) = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + H2O; Xref=Rhea:RHEA:38379, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:52323, ChEBI:CHEBI:53753; Evidence={ECO:0000269|PubMed:17603008};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2,3-tri-(9Z-octadecenoyl)-glycerol + all-trans-retinol = all-trans-retinyl 9Z-octadecenoate + di-(9Z)-octadecenoylglycerol; Xref=Rhea:RHEA:39987, ChEBI:CHEBI:17336, ChEBI:CHEBI:53753, ChEBI:CHEBI:70760, ChEBI:CHEBI:75945; Evidence={ECO:0000269|PubMed:17603008};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2,3-tri-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + 2,3-di-(9Z)-octadecenoyl-sn-glycerol + H(+); Xref=Rhea:RHEA:38391, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:53753, ChEBI:CHEBI:75824; Evidence={ECO:0000250|UniProtKB:Q8BJ56};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2,3-tri-(9Z)-hexadecenoylglycerol + H2O = (9Z)-hexadecenoate + 1,3-di-(9Z)-hexadecenoylglycerol + H(+); Xref=Rhea:RHEA:38395, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32372, ChEBI:CHEBI:75841, ChEBI:CHEBI:75849; Evidence={ECO:0000250|UniProtKB:Q8BJ56};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2,3-tri-(9Z)-hexadecenoylglycerol + H2O = (9Z)-hexadecenoate + 2,3-di-(9Z)-hexadecenoyl-sn-glycerol + H(+); Xref=Rhea:RHEA:38399, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32372, ChEBI:CHEBI:75841, ChEBI:CHEBI:75853; Evidence={ECO:0000250|UniProtKB:Q8BJ56};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2,3-tri-(9Z,12Z)-octadecadienoylglycerol + H2O = (9Z,12Z)-octadecadienoate + 1,3-di-(9Z,12Z)-octadecadienoylglycerol + H(+); Xref=Rhea:RHEA:38403, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30245, ChEBI:CHEBI:75844, ChEBI:CHEBI:75850; Evidence={ECO:0000250|UniProtKB:Q8BJ56};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2,3-tri-(9Z,12Z)-octadecadienoylglycerol + H2O = (9Z,12Z)-octadecadienoate + 2,3-di-(9Z,12Z)-octadecadienoyl-sn-glycerol + H(+); Xref=Rhea:RHEA:38407, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30245, ChEBI:CHEBI:75844, ChEBI:CHEBI:75854; Evidence={ECO:0000250|UniProtKB:Q8BJ56};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2,3-tri-(9Z,12Z,15Z)-octadecatrienoylglycerol + H2O = (9Z,12Z,15Z)-octadecatrienoate + 1,3-di-(9Z,12Z,15Z)-octadecatrienoylglycerol + H(+); Xref=Rhea:RHEA:38411, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32387, ChEBI:CHEBI:75845, ChEBI:CHEBI:75852; Evidence={ECO:0000250|UniProtKB:Q8BJ56};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2,3-tri-(9Z,12Z,15Z)-octadecatrienoylglycerol + H2O = (9Z,12Z,15Z)-octadecatrienoate + 2,3-di-(9Z,12Z,15Z)-octadecatrienoyl-sn-glycerol + H(+); Xref=Rhea:RHEA:38415, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32387, ChEBI:CHEBI:75845, ChEBI:CHEBI:75855; Evidence={ECO:0000250|UniProtKB:Q8BJ56};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,3-di-(9Z)-octadecenoyl-2-hexadecanoylglycerol + H2O = 1,3-di-(9Z-octadecenoyl)-glycerol + H(+) + hexadecanoate; Xref=Rhea:RHEA:38419, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:75735, ChEBI:CHEBI:75846; Evidence={ECO:0000250|UniProtKB:Q8BJ56};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,3-di-(9Z)-octadecenoyl-2-hexadecanoylglycerol + H2O = (9Z)-octadecenoate + 2-hexadecanoyl-3-(9Z)-octadecenoyl-sn-glycerol + H(+); Xref=Rhea:RHEA:38431, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:75846, ChEBI:CHEBI:75870; Evidence={ECO:0000250|UniProtKB:Q8BJ56};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2-di-(9Z)-octadecenoyl-3-hexadecanoyl-sn-glycerol + H2O = (9Z)-octadecenoate + 1-(9Z)-octadecenoyl-3-hexadecanoyl-sn-glycerol + H(+); Xref=Rhea:RHEA:38423, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:75583, ChEBI:CHEBI:75867; Evidence={ECO:0000250|UniProtKB:Q8BJ56};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1-hexadecanoyl-2,3-di-(9Z)-octadecenoyl-sn-glycerol + H2O = 2,3-di-(9Z)-octadecenoyl-sn-glycerol + H(+) + hexadecanoate; Xref=Rhea:RHEA:38427, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:75824, ChEBI:CHEBI:75847; Evidence={ECO:0000250|UniProtKB:Q8BJ56};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1-hexadecanoyl-2,3-di-(9Z)-octadecenoyl-sn-glycerol + H2O = (9Z)-octadecenoate + 1-hexadecanoyl-3-(9Z)-octadecenoyl-sn-glycerol + H(+); Xref=Rhea:RHEA:38647, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:75847, ChEBI:CHEBI:75868; Evidence={ECO:0000250|UniProtKB:Q8BJ56};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2-di-(9Z)-octadecenoyl-3-hexadecanoyl-sn-glycerol + H2O = (9Z)-octadecenoate + 2-(9Z-octadecenoyl)-3-hexadecanoyl-sn-glycerol + H(+); Xref=Rhea:RHEA:38643, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:75546, ChEBI:CHEBI:75583; Evidence={ECO:0000250|UniProtKB:Q8BJ56};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- pH dependence: Optimum pH is 7.5 with (1,2-dilinoleoyl)-phosphatidylcholine as substrate. {ECO:0000269|PubMed:17032652};
- UniProtKB/Swiss-Prot EnzymeRegulation:
- 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.
Enzyme Numbers (IUBMB) for PNPLA2 Gene
Phenotypes From GWAS Catalog for PNPLA2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004806 | triglyceride lipase activity | IBA,ISS | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0050253 | retinyl-palmitate esterase activity | EXP | 17603008 |
Phenotypes for PNPLA2 Gene
- MGI mutant phenotypes for PNPLA2:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for PNPLA2:
Animal Models for PNPLA2 Gene
- MGI Knock Outs for PNPLA2:
-
- Pnpla2 Pnpla2<tm1Rze>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PNPLA2 - Select products 50% OFF >
- * PNPLA2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
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OriGene CRISPR knockouts for PNPLA2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PNPLA2
-
Santa Cruz Biotechnology (SCBT) CRISPR for PNPLA2
miRNA for PNPLA2 Gene
- miRTarBase miRNAs that target PNPLA2
-
- mmu-miR-124-3p (MIRT015660)
- hsa-miR-148b-3p (MIRT019467)
- hsa-miR-124-3p (MIRT023204)
- hsa-miR-1249-5p (MIRT736452)
- hsa-miR-149-3p (MIRT737775)
- hsa-miR-2277-5p (MIRT739121)
- hsa-miR-3714 (MIRT742566)
- hsa-miR-3910 (MIRT742836)
- hsa-miR-4479 (MIRT745092)
- hsa-miR-4699-5p (MIRT747264)
- hsa-miR-4728-5p (MIRT747871)
- hsa-miR-506-3p (MIRT749593)
- hsa-miR-552-3p (MIRT750882)
- hsa-miR-5582-5p (MIRT750951)
- hsa-miR-6785-5p (MIRT755866)
- hsa-miR-6797-5p (MIRT756212)
- hsa-miR-6825-5p (MIRT757007)
- hsa-miR-6883-5p (MIRT758451)
- hsa-miR-7112-5p (MIRT759089)
- hsa-miR-744-5p (MIRT759366)
- hsa-miR-764 (MIRT759535)
- hsa-miR-9500 (MIRT760901)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PNPLA2
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Clone Products
- Applied Biological Materials (abm): Clones for PNPLA2 - Select products 50% OFF >
- * PNPLA2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG206855
- MG226260
- MG226261
- MR206855
- MR206855L3
- MR206855L4
- MR226260
- MR226260L3
- MR226260L4
- MR226261
- MR226261L3
- MR226261L4
- RC205708
- RC205708L1
- RC205708L2
- RC205708L3
- RC205708L4
- RG205708
- RR212937
- RR212937L3
- RR212937L4
- MR206855L3V
- MR206855L4V
- MR226260L3V
- MR226260L4V
- MR226261L3V
- MR226261L4V
- RC205708L1V
- RC205708L2V
- RC205708L3V
- RC205708L4V
- RR212937L3V
- RR212937L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PNPLA2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PNPLA2
Cell Line Products
-
Horizon Cell Lines for PNPLA2
No data available for Transcription Factor Targets and HOMER Transcription for PNPLA2 Gene
Localization for PNPLA2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PNPLA2 Gene
- Lipid droplet. Cell membrane. Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 4 |
| extracellular | 3 |
| mitochondrion | 3 |
| peroxisome | 3 |
| cytoskeleton | 2 |
| endosome | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
- Lipid droplets (4)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0005811 | lipid droplet | IBA,IDA | 21498505 |
Pathways & Interactions for PNPLA2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.40
|
|
| 2 | Glycerophospholipid biosynthesis | ||
| 3 | Glucose / Energy Metabolism | ||
| 4 | Glycerolipid metabolism | ||
| 5 | Regulation of lipolysis in adipocytes | ||
Pathways by source for PNPLA2 Gene
1 Sino Biological pathway for PNPLA2 Gene
3 BioSystems pathways for PNPLA2 Gene
5 Reactome pathways for PNPLA2 Gene
4 KEGG pathways for PNPLA2 Gene
1 Cell Signaling Technology pathway for PNPLA2 Gene
UniProtKB/Swiss-Prot Q96AD5-PLPL2_HUMAN
- Pathway: Glycerolipid metabolism; triacylglycerol degradation.
Interacting Proteins for PNPLA2 Gene
Selected Interacting proteins:
Q96AD5-PLPL2_HUMAN
ENSP00000337701
for PNPLA2 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for PNPLA2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006651 | diacylglycerol biosynthetic process | ISS | -- |
| GO:0010891 | negative regulation of sequestering of triglyceride | IEA,IDA | 16679289 |
| GO:0010898 | positive regulation of triglyceride catabolic process | IDA | 16679289 |
| GO:0016042 | lipid catabolic process | IEA | -- |
No data available for SIGNOR curated interactions for PNPLA2 Gene
Drugs & Compounds for PNPLA2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Palmitic Acid | Approved | Pharma | Agonist, Full agonist | 27 | ||
| Stearic acid | Approved, Experimental | Pharma | 0 | |||
| Water | Approved | Pharma | 0 | |||
| arachidonic acid | Experimental | Pharma | Activator, Agonist, Inhibitor, Activation, Potentiation | 40 | ||
| Myristic acid | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Arachidic acid |
|
506-30-9 |
|
|||
| Diglycerides Group A |
|
|
||||
| Diglycerides Group B |
|
|
||||
| Diglycerides Group C |
|
|
||||
| Diglycerides Group D |
|
|
Transcripts for PNPLA2 Gene
mRNA/cDNA for PNPLA2 Gene
- 1 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000336615 2416 nts (view in UCSC)
- ENST00000525250 2726 nts (view in UCSC)
- ENST00000526083 465 nts (view in UCSC)
- ENST00000529255 1301 nts (view in UCSC)
- ENST00000531923 637 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PNPLA2 - Select products 50% OFF >
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Clone Products
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-
- MG206855
- MG226260
- MG226261
- MR206855
- MR206855L3
- MR206855L4
- MR226260
- MR226260L3
- MR226260L4
- MR226261
- MR226261L3
- MR226261L4
- RC205708
- RC205708L1
- RC205708L2
- RC205708L3
- RC205708L4
- RG205708
- RR212937
- RR212937L3
- RR212937L4
- MR206855L3V
- MR206855L4V
- MR226260L3V
- MR226260L4V
- MR226261L3V
- MR226261L4V
- RC205708L1V
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PNPLA2
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Relevant External Links for PNPLA2 Gene
- GeneLoc Exon Structure for
- PNPLA2
Expression for PNPLA2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for PNPLA2 Gene
This gene is overexpressed in Adipose - Visceral (Omentum) (x6.5) and Adipose - Subcutaneous (x5.6).
This gene is overexpressed in Breast (19.6), Nasopharynx (10.1), Saliva (7.9), and Plasma (7.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PNPLA2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PNPLA2
SOURCE GeneReport for Unigene cluster for PNPLA2 Gene:
Hs.654697mRNA Expression by UniProt/SwissProt for PNPLA2 Gene:
Q96AD5-PLPL2_HUMAN
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).
Evidence on tissue expression from TISSUES for PNPLA2 Gene
- Liver(4.7)
- Nervous system(4.7)
- Eye(4.5)
- Muscle(3.9)
- Heart(3.6)
- Pancreas(3.5)
- Skin(3)
- Kidney(3)
- Intestine(3)
- Blood(2.8)
- Lung(2.7)
- Adrenal gland(2.7)
- Bone marrow(2.7)
- Stomach(2.6)
- Spleen(2.6)
- Thyroid gland(2.5)
- Lymph node(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PNPLA2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- head
Abdomen:
- liver
Limb:
- lower limb
- upper limb
General:
- peripheral nerve
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for PNPLA2
-
OriGene qPCR primer pairs and template standards for PNPLA2
Gene Expression Assay Products
No data available for Protein tissue co-expression partners for PNPLA2 Gene
Orthologs for PNPLA2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PNPLA2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PNPLA2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PNPLA2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Pnpla2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pnpla2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | PNPLA2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PNPLA2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PNPLA2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pnpla2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | PNPLA2 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | dob 31 |
|
ManyToMany | |
| bmm 31 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | C05D11.7 30 31 |
|
OneToMany |
- Species where no ortholog for PNPLA2 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)
- Platypus (Ornithorhynchus anatinus)
- 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)
- Wheat (Triticum aestivum)
Evolution for PNPLA2 Gene
- ENSEMBL:
- Gene Tree for PNPLA2 (if available)
- TreeFam:
- Gene Tree for PNPLA2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PNPLA2: view image
Paralogs for PNPLA2 Gene
Variants for PNPLA2 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for PNPLA2 Gene
- PLPL2_HUMAN-Q96AD5
- Genetic variations in PNPLA2 may influence plasma free fatty acids and triglycerides levels, and fasting glucose concentrations.
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PNPLA2 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 639053 | Uncertain Significance: Neutral lipid storage myopathy | 824,400(+) | G/A | MISSENSE_VARIANT | |
| 639484 | Uncertain Significance: Neutral lipid storage myopathy | 824,742(+) | C/A | SYNONYMOUS_VARIANT | |
| 642678 | Uncertain Significance: Neutral lipid storage myopathy; not provided | 824,831(+) | C/A | MISSENSE_VARIANT | |
| 644798 | Uncertain Significance: Neutral lipid storage myopathy | 823,807(+) | C/T | MISSENSE_VARIANT | |
| 645535 | Uncertain Significance: Neutral lipid storage myopathy | 824,626(+) | C/T | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1013n100 | CNV | gain | 25217958 |
| dgv1526n54 | CNV | gain | 21841781 |
| dgv182e199 | CNV | deletion | 23128226 |
| esv2759794 | CNV | loss | 17122850 |
| nsv1040044 | CNV | gain+loss | 25217958 |
| nsv1048774 | CNV | gain | 25217958 |
| nsv1159791 | CNV | deletion | 26073780 |
| nsv469923 | CNV | loss | 18288195 |
| nsv552871 | CNV | loss | 21841781 |
| nsv552874 | CNV | gain | 21841781 |
| nsv832044 | CNV | loss | 17160897 |
| nsv8759 | CNV | gain | 18304495 |
| nsv951272 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
82.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.54;
44.21% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PNPLA2 Gene
SNP Genotyping and Copy Number Assay Products
Disorders for PNPLA2 Gene
(20) MalaCards diseases for PNPLA2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neutral lipid storage disease with myopathy |
|
|
| triglyceride deposit cardiomyovasculopathy |
|
|
| lipid storage disease |
|
|
| chanarin-dorfman syndrome |
|
|
| myopathy |
|
|
Search PNPLA2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PLPL2_HUMAN- Note=Genetic variations in PNPLA2 may be associated with risk of diabetes mellitus type 2. {ECO:0000269 PubMed:16644682}.
- 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. {ECO:0000269 PubMed:17187067}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for PNPLA2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for PNPLA2 Gene
Publications for PNPLA2 Gene
- The ATGL gene is associated with free fatty acids, triglycerides, and type 2 diabetes. (PMID: 16644682) Schoenborn V … Kronenberg F (Diabetes 2006) 3 4 23 41
- Rare ATGL haplotypes are associated with increased plasma triglyceride concentrations in the Greenland Inuit. (PMID: 20167152) Johansen CT … Hegele RA (International journal of circumpolar health 2010) 3 23 41
- The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. (PMID: 17187067) Fischer J … Salvayre R (Nature genetics 2007) 3 4 23
- Identification of a lipase-linked cell membrane receptor for pigment epithelium-derived factor. (PMID: 17032652) Notari L … Becerra SP (The Journal of biological chemistry 2006) 3 4 23
- ATGL has a key role in lipid droplet/adiposome degradation in mammalian cells. (PMID: 16239926) Smirnova E … Jackson CL (EMBO reports 2006) 3 4 23
ExternalLinks
Products for PNPLA2 Gene
- Custom Antibody ServicesOriGene Antibodies for PNPLA2
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- OriGene qPCR primer pairs for PNPLA2
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- OriGene CRISPR knockouts for PNPLA2
- MG206855
- MG226260
- MG226261
- MR206855
- MR206855L3
- MR206855L4
- MR226260
- MR226260L3
- MR226260L4
- MR226261
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- RC205708
- RC205708L1
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- RR212937
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- MR206855L3V
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- RC205708L1V
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- RR212937L3V
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- Boster Bio Antibodies for PNPLA2
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Sources for PNPLA2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77)