Free for academic non-profit institutions. Other users need a Commercial license
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]
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.
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 |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
|
|
2 | Glycerophospholipid biosynthesis | ||
3 | Glucose / Energy Metabolism | ||
4 | Glycerolipid metabolism | ||
5 | Regulation of lipolysis in adipocytes |
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 | -- |
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 |
|
|
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
neutral lipid storage disease with myopathy |
|
|
triglyceride deposit cardiomyovasculopathy |
|
|
lipid storage disease |
|
|
chanarin-dorfman syndrome |
|
|
myopathy |
|
|