PNPLA2 Gene (Protein Coding)

Patatin Like Phospholipase Domain Containing 2

GC11P000884
GIFtS:
45
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
  • 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 52
  • Desnutrin 3 4
  • TTS2.2 3 4
  • ATGL 3 4
  • TTS2 3 4
  • Mutant Patatin-Like Phospholipase Domain Containing 2 3
  • Patatin-Like Phospholipase Domain Containing 2 2
  • Transport-Secretion Protein 2.2 3
  • Transport-Secretion Protein 2 4
  • Triglyceride Hydrolase 3
  • 1110001C14Rik 3
  • IPLA2zeta 3
  • FP17548 3
  • TTS-2.2 3
  • PEDF-R 3

External Ids for PNPLA2 Gene

Previous GeneCards Identifiers for PNPLA2 Gene

  • GC11P000808
  • GC11P000634
  • GC11P000819
  • GC11P000821
  • GC11P000855
  • GC11P000862
  • GC11P000869
  • GC11P000823
  • GC11P000838
  • GC11P000847

Summaries for PNPLA2 Gene

Entrez Gene Summary 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 Mitochondrial LC-Fatty Acid Beta-Oxidation. 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). 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.

Gene Wiki entry for PNPLA2 Gene

Additional gene information for PNPLA2 Gene

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 for PNPLA2 Gene

Promoters and enhancers for PNPLA2 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
GH11J000818 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 506.1 +1.7 1672 4.6 HNRNPK ZBTB40 EP300 NRF1 POLR2G SP1 NCOR1 PHF8 JUND FOS PNPLA2 NONHSAG007352.2 RPLP2 SNORA52 ENSG00000255108 PHRF1 LOC171391 TMEM80 BET1L RIC8A
GH11J000823 Promoter/Enhancer 0.7 EPDnew dbSUPER 500.7 +4.7 4709 0.1 POLR2G RBFOX2 PNPLA2 NONHSAG007352.2 CRACR2B
GH11J000824 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 0.4 +11.0 10984 11.5 HNRNPK NRF1 POLR2G USF1 JUND FOS ZFX CTCF ZNF10 ZIC2 CD151 CRACR2B ENSG00000255108 RPLP2 LOC171391 CHID1 POLR2L B4GALNT4 PNPLA2
- 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

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
chr11:818,891-825,573
(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:
PNPLA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNPLA2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PNPLA2 Gene

Proteins for PNPLA2 Gene

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  • 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
    Secondary Accessions:
    • 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; Evidence={ECO:0000305}; Sequence=CAC01132.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PNPLA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PNPLA2 Gene

Protein Expression for PNPLA2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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
  • Ubiquitination at Lys100, Lys435, and Lys224
  • Modification sites at PhosphoSitePlus

Other Protein References for PNPLA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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)
genes like me logo Genes that share domains with PNPLA2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PNPLA2 Gene

Function for PNPLA2 Gene

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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:
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;.
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

Gene Ontology (GO) - Molecular Function for PNPLA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004806 triglyceride lipase activity ISS --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PNPLA2: view
genes like me logo Genes that share phenotypes with PNPLA2: view

Human Phenotype Ontology for PNPLA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PNPLA2 Gene

MGI Knock Outs for PNPLA2:

Animal Model Products

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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.

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 PNPLA2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
endoplasmic reticulum 5
cytosol 4
extracellular 3
mitochondrion 3
peroxisome 3
cytoskeleton 2
lysosome 2
golgi apparatus 2
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Lipid droplets (4)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PNPLA2 Gene

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
genes like me logo Genes that share ontologies with PNPLA2: view

Pathways & Interactions for PNPLA2 Gene

genes like me logo Genes that share pathways with PNPLA2: view

Pathways by source for PNPLA2 Gene

1 Sino Biological pathway for PNPLA2 Gene
1 Cell Signaling Technology pathway for PNPLA2 Gene

UniProtKB/Swiss-Prot Q96AD5-PLPL2_HUMAN

  • Pathway: Glycerolipid metabolism; triacylglycerol degradation.

Gene Ontology (GO) - Biological Process for PNPLA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0010891 negative regulation of sequestering of triglyceride IDA,IEA 16679289
GO:0010898 positive regulation of triglyceride catabolic process IEA,IDA 16679289
GO:0016042 lipid catabolic process IEA --
GO:0019433 triglyceride catabolic process IBA,IEA --
genes like me logo Genes that share ontologies with PNPLA2: view

No data available for SIGNOR curated interactions for PNPLA2 Gene

Drugs & Compounds for PNPLA2 Gene

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(9) Drugs for PNPLA2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Palmitic Acid Approved Pharma Full agonist, Agonist 25
Stearic acid Approved, Experimental Pharma 0
Water Approved Pharma 0
arachidonic acid Experimental Pharma Activator, Inhibitor, Agonist, Activation, Potentiation 39
Myristic acid Experimental Pharma 0

(17) Additional Compounds for PNPLA2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachidinic acid
  • Arachinsaeure
  • C20:0
  • CH3-[CH2]18-COOH
  • Eicosanoic acid
 506-30-9
Diglycerides Group A
  • 1-arachidonyl-3-behenoyl-sn-glycerol
  • DAG(42:0)
  • Diacylglycerol(20:0/0:0/22:0)
  • DG(42:0)
  • Diglyceride
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-Stearoyl-2-palmitoyl-sn-glycerol
  • DAG(18:0/16:0)
  • DAG(34:0)
  • DG(18:0/16:0)
  • DG(34:0)
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with PNPLA2: view

Transcripts for PNPLA2 Gene

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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 :

CRISPR Products

Inhibitory RNA Products

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Alternative Splicing Database (ASD) splice patterns (SP) for PNPLA2 Gene

No ASD Table

Relevant External Links for PNPLA2 Gene

GeneLoc Exon Structure for
PNPLA2

Expression for PNPLA2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PNPLA2 Gene

mRNA expression in normal human tissues for PNPLA2 Gene
mRNA expression by GTEx for PNPLA2 GenemRNA expression by BioGPS 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).

Protein differential expression in normal tissues from HIPED for PNPLA2 Gene

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.654697

mRNA 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
genes like me logo Genes that share expression patterns with PNPLA2: view

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.

Orthologs for PNPLA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PNPLA2 31 30
  • 99.4 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia PNPLA2 31 30
  • 88.82 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia PNPLA2 31 30
  • 87.14 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Pnpla2 17 31 30
  • 84.42 (n)
rat
(Rattus norvegicus)
 Mammalia Pnpla2 30
  • 84.06 (n)
oppossum
(Monodelphis domestica)
 Mammalia PNPLA2 31
  • 82 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PNPLA2 31 30
  • 69.58 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia PNPLA2 31
  • 70 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pnpla2 30
  • 65.48 (n)
zebrafish
(Danio rerio)
 Actinopterygii PNPLA2 31
  • 78 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta dob 31
  • 30 (a)
 ManyToMany
bmm 31
  • 27 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea C05D11.7 31 30
  • 45.41 (n)
 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

Paralogs for PNPLA2 Gene

(5) SIMAP similar genes for PNPLA2 Gene using alignment to 2 proteins:

  • PLPL2_HUMAN
  • G4WMG7_HUMAN
genes like me logo Genes that share paralogs with PNPLA2: view

Variants for PNPLA2 Gene

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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 disease with myopathy 824,400(+) G/A MISSENSE_VARIANT
639484 Uncertain Significance: Neutral lipid storage disease with myopathy 824,742(+) C/A SYNONYMOUS_VARIANT
642678 Uncertain Significance: Neutral lipid storage disease with myopathy 824,831(+) C/A MISSENSE_VARIANT
644798 Uncertain Significance: Neutral lipid storage disease with myopathy 823,807(+) C/T MISSENSE_VARIANT
645535 Uncertain Significance: Neutral lipid storage disease with myopathy 824,626(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PNPLA2 Gene

Structural Variations from Database of Genomic Variants (DGV) for PNPLA2 Gene

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

Variation tolerance for PNPLA2 Gene

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

Human Gene Mutation Database (HGMD)
PNPLA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PNPLA2

Disorders for PNPLA2 Gene

MalaCards: The human disease database

(22) 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
  • nlsdm
triglyceride deposit cardiomyovasculopathy
  • neutral lipid storage disease with severe cardiovascular involvement
lipid storage disease
  • inborn lipid storage disorder
chanarin-dorfman syndrome
  • cds
myopathy
  • muscular diseases
- elite association - COSMIC cancer census association via MalaCards

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
genes like me logo Genes that share disorders with PNPLA2: view

No data available for Genatlas for PNPLA2 Gene

Publications for PNPLA2 Gene

  1. 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 54
  2. 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 54
  3. 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 54
  4. 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 54
  5. 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 54

ExternalLinks

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