Entity Details

Primary name PNPLA2
Entity type gene
Source Source Link

Details

PrimaryID57104
RefseqGeneNG_023394
SymbolPNPLA2
Namepatatin like phospholipase domain containing 2
Chromosome11
Location11p15.5
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-11
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPLPL2_HUMAN

GO terms

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GOName
GO:0004806 triglyceride lipase activity
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005788 endoplasmic reticulum lumen
GO:0005789 endoplasmic reticulum membrane
GO:0005811 lipid droplet
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006651 diacylglycerol biosynthetic process
GO:0010891 negative regulation of sequestering of triglyceride
GO:0010898 positive regulation of triglyceride catabolic process
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0019433 triglyceride catabolic process
GO:0019915 lipid storage
GO:0034389 lipid droplet organization
GO:0036155 acylglycerol acyl-chain remodeling
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0050253 retinyl-palmitate esterase activity
GO:0055088 lipid homeostasis

Diseases

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Disease IDSourceNameDescription
610717 OMIMNeutral lipid storage disease with myopathy (NLSDM)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. The disease is caused by variants affecting the gene represented in this entry.