PNPLA2

PNPLA2 is 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.

patatin-like phospholipase domain containing 2

Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets (PubMed:15550674, PubMed:15364929, PubMed:16150821, PubMed:17603008, PubMed:16239926).
Exhibits a strong preference for the hydrolysis of long-chain fatty acid esters at the sn-2 position of the glycerol backbone and acts coordinately with LIPE/HLS and DGAT2 within the lipolytic cascade (By similarity).
Also possesses acylglycerol transacylase and phospholipase A2 activities (PubMed:15364929, PubMed:17032652, PubMed:17603008).
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 (By similarity).
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).

Acylglycerol acyl-chain remodelingTAS:Reactome
Diacylglycerol biosynthetic processISS:UniProtKB
Lipid droplet disassemblyManual Assertion Based On ExperimentIMP:UniProtKB
Lipid homeostasisManual Assertion Based On ExperimentIBA:GO_Central
Lipid storageIEA:Ensembl
Negative regulation of sequestering of triglycerideManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of triglyceride catabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Triglyceride catabolic processISS:UniProtKB

Lipid droplet
Cell membrane
Cytoplasm

Neutral 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.

Cytoplasmic: 1-8
Helical: 9-29
Extracellular: 30-42
Helical: 43-63
Cytoplasmic: 64-137
Helical: 138-158
Extracellular: 159-329
Helical: 330-350
Cytoplasmic: 351-504

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 (PubMed:22733971).