PNPLA2

Gene Information
 
Gene Symbol
PNPLA2
 
Aliases
1110001C14Rik, ATGL, FP17548, PEDF-R, TTS-2.2, TTS2, iPLA2zeta
 
Entrez Gene ID
 
Gene Name
Patatin-like phospholipase domain containing 2
 
Chromosomal Location
11p15.5
 
HGNC ID
 
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)
 
GeneCards ID
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition 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
Protein Information
 
Protein Name
Patatin-like phospholipase domain-containing protein 2
 
Function
Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets. 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. 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
 
UniProt
 
InterPro
Accessions
IPR016035, IPR002641
 
Pfam
Pfam Accession Pfam ID
PF01734 Patatin Patatin-like phospholipase
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Abnormal endometrial function 3188971
Insulin resistance 21209034
   
References
 
Primary:

Serum pigment epithelium-derived factor is elevated in women with polycystic ovary syndrome and correlates with insulin resistance.

Yang Shumin, Li Qifu, Zhong Li, Song Ying, Tian Bo, Cheng Qingfeng, Qing Hua, Xia Wei, Luo Mei, Mei Mei
Department of Endocrinology, The First Affiliated Hospital of Chongqing Medical University, 1 Youyi Street, Chongqing 400016, China.
J Clin Endocrinol Metab. 2011 Mar;96(3):831-6. doi: 10.1210/jc.2010-2140. Epub
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
Abnormal endometrial function 
 
 
Related 
 
 
 
Insulin resistance 
 
Rotterdam criteria 
Related 
 
The serum PEDF level is elevated in women with PCOS and is associated with IR. PEDF may play a role in the pathogenesis of IR in PCOS. 

 

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