Patatin-Like Phospholipase Domain-Containing Protein 2

Alternative Names

  • PNPLA2
  • Adipose Triglyceride Lipase
  • ATGL
  • Desnutrin
  • Transport-Secretion Protein 2
  • TTS2
  • TTS2.2
  • Phospholipase A2, Calcium-Independent, Zeta
  • IPLA2-Zeta
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OMIM Number

609059

NCBI Gene ID

57104

Uniprot ID

Q96AD5

Length

6,683 bases

No. of Exons

8

No. of isoforms

2

Protein Name

Patatin-Like Phospholipase Domain-Containing Protein 2

Molecular Mass

55316 Da

Amino Acid Count

504

Genomic Location

chr11:818,891-825,573

Gene Map Locus
11p15.5

Description

The PNPLA2 gene encodes a lipase enzyme involved in the triglyceride catabolic process. The enzyme is required to catalyse the initial step in the hydrolysis of triglycerides. The protein thus plays a role in the processes of lipid storage, lipid droplet organisation and lipid homeostasis. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_020376.4:c.662G>CLebanonchr11:822572PathogenicNeutral Lipid Storage Disease with MyopathyNG_023394.1:g.8672G>C; NM_020376.4:c.662G>C; NP_065109.1:p.Arg221Pro554737718663841
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