LMPD Database

LMP006638

Record overview

LMPD IDLMP006638
Gene ID57104
SpeciesHomo sapiens (Human)
Gene Namepatatin-like phospholipase domain containing 2
Gene SymbolPNPLA2
Synonyms1110001C14Rik; ATGL; PEDF-R; TTS-2.2; TTS2; iPLA2zeta
Alternate namespatatin-like phospholipase domain-containing protein 2; TTS2.2; desnutrin; IPLA2-zeta; triglyceride hydrolase; adipose triglyceride lipase; transport-secretion protein 2.2; pigment epithelium-derived factor; calcium-independent phospholipase A2; patatin-like phospholipase domain containing protein 2
Chromosome11
Map Location11p15.5
EC Number3.1.1.3
SummaryThis 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]
OrthologsView orthologs and multiple alignments for PNPLA2

Proteins

patatin-like phospholipase domain-containing protein 2
Refseq ID:NP_065109
Protein GI:32698724
UniProt ID:Q96AD5
mRNA ID:NM_020376
Length:504
RefSeq Status:REVIEWED
MFPREKTWNISFAGCGFLGVYYVGVASCLREHAPFLVANATHIYGASAGALTATALVTGVCLGEAGAKFIEVSKEARKRFLGPLHPSFNLVKIIRSFLLK
VLPADSHEHASGRLGISLTRVSDGENVIISHFNSKDELIQANVCSGFIPVYCGLIPPSLQGVRYVDGGISDNLPLYELKNTITVSPFSGESDICPQDSST
NIHELRVTNTSIQFNLRNLYRLSKALFPPEPLVLREMCKQGYRDGLRFLQRNGLLNRPNPLLALPPARPHGPEDKDQAVESAQAEDYSQLPGEDHILEHL
PARLNEALLEACVEPTDLLTTLSNMLPVRLATAMMVPYTLPLESALSFTIRLLEWLPDVPEDIRWMKEQTGSICQYLVMRAKRKLGRHLPSRLPEQVELR
RVQSLPSVPLSCAAYREALPGWMRNNLSLGDALAKWEECQRQLLLGLFCTNVAFPPEALRMRAPADPAPAPADPASPQHQLAGPAPLLSTPAPEARPVIG
ALGL