PNPLA2: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

PNPLA2

Aliases

1110001C14Rik, ATGL, FP17548, PEDF-R, TTS-2.2, TTS2, iPLA2zeta

Entrez Gene ID

57104

Gene Name

Patatin like phospholipase domain containing 2

Chromosomal Location

11p15.5

HGNC ID

HGNC:30802

Summary

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]

RefSeq DNA

NG_023394.1

RefSeq mRNA

NM_020376.4

e!Ensembl

Gene	ENSG00000177666
Transcript	ENST00000336615
Protein	ENSP00000337701

Gene Ontology (GO)

Show/Hide all(9 )

GO ID	Ontology	Function	Evidence	Reference
GO:0010891	Biological process	Negative regulation of sequestering of triglyceride	IDA	16679289
GO:0010898	Biological process	Positive regulation of triglyceride catabolic process	IDA	16679289
GO:0019433	Biological process	Triglyceride catabolic process	IBA	21873635
GO:0055088	Biological process	Lipid homeostasis	IBA	21873635
GO:0005737	Cellular component	Cytoplasm	IBA	21873635
GO:0005811	Cellular component	Lipid droplet	IBA	21873635
GO:0005811	Cellular component	Lipid droplet	IDA	21498505
GO:0016020	Cellular component	Membrane	IBA	21873635
GO:0004806	Molecular function	Triglyceride lipase activity	IBA	21873635

Protein Information

Protein Name

Patatin-like phospholipase domain-containing protein 2, IPLA2-zeta, TTS2.2, adipose triglyceride lipase, calcium-independent phospholipase A2, desnutrin, mutant patatin-like phospholipase domain containing 2, pigment epithelium-derived factor, transport-secretion protein 2.2, triglyceride hydrolase

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.

Refseq Proteins

NP_065109.1

UniProt

Q96AD5

Pfam

Pfam Accession	Pfam ID
PF01734	Patatin