Aliases for PNPLA2 Gene
Aliases for PNPLA2 Gene
- Patatin Like Phospholipase Domain Containing 2 2 3 5
- Calcium-Independent Phospholipase A2 3 4
- Pigment Epithelium-Derived Factor 3 4
- Adipose Triglyceride Lipase 3 4
- IPLA2-Zeta 3 4
- Desnutrin 3 4
- TTS2.2 3 4
- ATGL 3 4
- TTS2 3 4
- Patatin-Like Phospholipase Domain-Containing Protein 2 3
- Mutant Patatin-Like Phospholipase Domain Containing 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
- GC11P000823
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 Lipid Storage Disease. Among its related pathways are Glycerolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include triglyceride lipase activity. An important paralog of this gene is PNPLA3.
UniProtKB/Swiss-Prot for PNPLA2 Gene
-
Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets (PubMed:15550674). Also has acylglycerol transacylase activity. May act coordinately with LIPE/HLS within the lipolytic cascade. Regulates adiposome size and may be involved in the degradation of adiposomes (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.
Additional gene information for PNPLA2 Gene
- Monarch Initiative
- Search for PNPLA2 at DataMed
- Search for PNPLA2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNPLA2 Gene
Genomics for PNPLA2 Gene
GeneHancer (GH) Regulatory Elements for PNPLA2 Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PNPLA2 gene promoter:
-
- p53
- STAT1
- p300
- Pax-5
- STAT1alpha
- STAT1beta
- AP-4
- MyoD
Regulatory Element Products
Genomic Locations for PNPLA2 Gene
Genomic Locations for PNPLA2 Gene
- chr11:818,891-825,573
- (GRCh38/hg38)
- Size:
- 6,683 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 Entrez Gene
- 11p15.5 by HGNC
- 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. 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; Positions=501; Evidence={ECO:0000305}; Sequence=CAC01131.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC01132.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for PNPLA2 Gene
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 posLast=3939
- Ubiquitination at posLast=435435, Lys224, and posLast=100100
- Modification sites at PhosphoSitePlus
Other Protein References for PNPLA2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for PNPLA2 (PEDF R/PNPLA2)
-
Custom Antibody ServicesOriGene Antibodies for PNPLA2
- Novus Biologicals Antibodies for PNPLA2
-
Abcam antibodies for PNPLA2
- Invitrogen Antibodies for PNPLA2
- GeneTex PNPLA2 Antibody for PNPLA2
-
Boster Bio Antibodies for PNPLA2
-
Santa Cruz Biotechnology (SCBT) Antibodies for PNPLA2
Protein Products
-
OriGene Purified Proteins for PNPLA2
- Search Origene for MassSpec and Protein Over-expression Lysates for PNPLA2
- Origene Custom Protein Services for PNPLA2
- Search GeneTex for Proteins for PNPLA2
-
Abcam proteins for PNPLA2
No data available for DME Specific Peptides for PNPLA2 Gene
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:
Graphical View of Domain Structure for InterPro Entry
No data available for 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). Also has acylglycerol transacylase activity. May act coordinately with LIPE/HLS within the lipolytic cascade. Regulates adiposome size and may be involved in the degradation of adiposomes (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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Triacylglycerol + H(2)O = diacylglycerol + a carboxylate.
- 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.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- pH dependence: Optimum pH is 7.5 with (1,2-dilinoleoyl)-phosphatidylcholine as substrate. {ECO:0000269 PubMed:17032652};
Enzyme Numbers (IUBMB) for PNPLA2 Gene
Phenotypes From GWAS Catalog for PNPLA2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IBA | -- |
| GO:0004465 | lipoprotein lipase activity | TAS | -- |
| GO:0004806 | triglyceride lipase activity | TAS | -- |
| GO:0016411 | acylglycerol O-acyltransferase activity | TAS | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
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
- Cyagen custom Knockout/knockin (KOKI) mouse models for PNPLA2
-
CRISPR Products
-
OriGene CRISPR knockouts for PNPLA2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PNPLA2
- genomics-online: gRNA clones - Search results for available PNPLA2 gene related products
- Applied Biological Materials CRISPR for PNPLA2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PNPLA2
- GenScript: Design CRISPR guide RNA sequences for PNPLA2
miRNA for PNPLA2 Gene
- miRTarBase miRNAs that target PNPLA2
-
- 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
- Browse OriGene Inhibitory RNA Products For PNPLA2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNPLA2
- genomics-online: shRNA clones - Search results for available PNPLA2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PNPLA2
- VectorBuilder custom plasmid, inducible vectors for PNPLA2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PNPLA2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PNPLA2
- genomics-online: cdna clones - Search results for available PNPLA2 gene related products
- orf clones - Search results for available PNPLA2 gene related products
- Applied Biological Materials Clones for PNPLA2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 |
| mitochondrion | 3 |
| peroxisome | 3 |
| extracellular | 2 |
| golgi apparatus | 1 |
- Lipid droplets (4)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IBA | -- |
| GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0005811 | lipid droplet | IEA,IDA | 21498505 |
Pathways & Interactions for PNPLA2 Gene
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:
ENSP00000337701
Q96AD5-PLPL2_HUMAN
for PNPLA2 Gene via
STRING
IID
MINT
GPS-Prot Interaction Network for PNPLA2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0008152 | metabolic process | IEA | -- |
| GO:0010891 | negative regulation of sequestering of triglyceride | IDA,IEA | 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 | 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
- (5) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (166) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000336615 2428 bps (uc001lrt.4)
- ENST00000525250 2726 bps (uc057xnt.1)
- ENST00000534561 388 bps (uc057xnv.1)
- ENST00000531923 637 bps (uc057xnw.1)
- ENST00000529255 1301 bps (uc057xnx.1)
Unigene Clusters for PNPLA2 Gene
- Patatin-like phospholipase domain containing 2:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for PNPLA2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PNPLA2
- genomics-online: gRNA clones - Search results for available PNPLA2 gene related products
- Applied Biological Materials CRISPR for PNPLA2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PNPLA2
- GenScript: Design CRISPR guide RNA sequences for PNPLA2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PNPLA2
- Browse OriGene Inhibitory RNA Products For PNPLA2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNPLA2
- genomics-online: shRNA clones - Search results for available PNPLA2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PNPLA2
- VectorBuilder custom plasmid, inducible vectors for PNPLA2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PNPLA2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PNPLA2
- genomics-online: cdna clones - Search results for available PNPLA2 gene related products
- orf clones - Search results for available PNPLA2 gene related products
- Applied Biological Materials Clones for PNPLA2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
NURSA nuclear receptor signaling pathways regulating expression of PNPLA2 Gene:
PNPLA2SOURCE 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(4.6)
- Nervous system(4.5)
- Eye(4.4)
- Muscle(3.6)
- Heart(3.2)
- Pancreas(2.8)
- Skin(2.6)
- Lung(2.3)
- Blood(2.1)
- Intestine(2.1)
- Kidney(2.1)
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 and template standards for PNPLA2
-
OriGene qPCR primer pairs for PNPLA2
- genomics-online: primer clones - Search results for available PNPLA2 gene related products
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 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PNPLA2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PNPLA2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Pnpla2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pnpla2 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PNPLA2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PNPLA2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PNPLA2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pnpla2 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | PNPLA2 34 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | dob 34 |
|
ManyToMany | |
| bmm 34 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | C05D11.7 34 33 |
|
OneToMany |
- Species where no ortholog for PNPLA2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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.
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs10902224 | benign, conflicting-interpretations-of-pathogenicity, not specified, Neutral lipid storage disease with myopathy | 822,588(+) | C/G/T | coding_sequence_variant, synonymous_variant | |
| rs1135628 | likely-benign, benign, Neutral lipid storage disease with myopathy, not specified | 823,809(+) | C/A/G/T | coding_sequence_variant, synonymous_variant | |
| rs1138693 | benign, not specified, Neutral lipid storage disease with myopathy | 824,789(+) | T/C | coding_sequence_variant, missense_variant, synonymous_variant | |
| rs1138694 | benign, not specified, Neutral lipid storage disease with myopathy | 824,805(+) | C/A/T | coding_sequence_variant, missense_variant, synonymous_variant | |
| rs1138714 | benign, Neutral lipid storage disease with myopathy | 825,110(+) | A/G | 3_prime_UTR_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
(7) MalaCards diseases for PNPLA2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neutral lipid storage disease with myopathy |
|
|
| lipid storage disease |
|
|
| chanarin-dorfman syndrome |
|
|
| myopathy |
|
|
| neurodegeneration with brain iron accumulation 2a |
|
|
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
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 22 44 58
- 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 22 44 58
- 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 22 58
- ATGL has a key role in lipid droplet/adiposome degradation in mammalian cells. (PMID: 16239926) Smirnova E … Jackson CL (EMBO reports 2006) 3 4 22 58
- 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 22 58
Products for PNPLA2 Gene
- R&D Systems Antibodies for PNPLA2 (PEDF R/PNPLA2)
- Browse R&D Systems for Human Recombinant Proteins
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- Custom Antibody ServicesOriGene Antibodies for PNPLA2
- Browse OriGene ELISA Kits
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- OriGene Purified Proteins for PNPLA2
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PNPLA2
- GenScript: Next-day shipping of latest version cDNA ORF clones for PNPLA2 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for PNPLA2
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- Sino Biological Human cDNA Clone for PNPLA2
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for PNPLA2
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- Cyagen custom Knockout/knockin (KOKI) mouse models for PNPLA2
- VectorBuilder custom plasmid, inducible vectors for PNPLA2
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 179 available PNPLA2 Antibodies ranked by validation data
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- antibodies-online: Search results for 37 available PNPLA2 Elisa Kits ranked by validation data
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- antibodies-online: Search results for 9 available PNPLA2 Proteins ranked by validation data
- Compare Top PNPLA2 Proteins
- GeneTex PNPLA2 Antibody for PNPLA2
- Search GeneTex for Proteins for PNPLA2
- Santa Cruz Biotechnology (SCBT) Antibodies for PNPLA2
- Search Santa Cruz Biotechnology (SCBT) for PNPLA2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PNPLA2
- Horizon Cell Lines for PNPLA2
- genomics-online: cdna clones - Search results for available PNPLA2 gene related products
- orf clones - Search results for available PNPLA2 gene related products
- genomics-online: gRNA clones - Search results for available PNPLA2 gene related products
- genomics-online: primer clones - Search results for available PNPLA2 gene related products
- genomics-online: shRNA clones - Search results for available PNPLA2 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PNPLA2
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- GeneCopoeia miRNA 3'UTR Target clone products for PNPLA2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNPLA2
- Boster Bio Antibodies for PNPLA2
- Browse Boster Bio ELISA Kits
Sources for PNPLA2 Gene
- (1) GeneCards
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- (24) DrugBank
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- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
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- (37) FlyBase
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- (47) Atlas
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- (54) Leiden
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- (68) Cloud-Clone Corp.
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- (74) GeneGo (Thomson Reuters)
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